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For: Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41. [DOI: 10.1038/ng746] [Cited by in Crossref: 398] [Cited by in F6Publishing: 355] [Article Influence: 19.0] [Reference Citation Analysis]
Number Citing Articles
1 Wallace DC, Lott MT, Procaccio V. Mitochondrial Biology and Medicine. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Elsevier; 2019. pp. 267-322. [DOI: 10.1016/b978-0-12-812537-3.00010-x] [Cited by in Crossref: 2] [Article Influence: 0.7] [Reference Citation Analysis]
2 Ansoleaga B, Jové M, Schlüter A, Garcia-Esparcia P, Moreno J, Pujol A, Pamplona R, Portero-Otín M, Ferrer I. Deregulation of purine metabolism in Alzheimer's disease. Neurobiol Aging 2015;36:68-80. [PMID: 25311278 DOI: 10.1016/j.neurobiolaging.2014.08.004] [Cited by in Crossref: 68] [Cited by in F6Publishing: 66] [Article Influence: 8.5] [Reference Citation Analysis]
3 Holmlund T, Farge G, Pande V, Korhonen J, Nilsson L, Falkenberg M. Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia. Biochim Biophys Acta 2009;1792:132-9. [PMID: 19084593 DOI: 10.1016/j.bbadis.2008.11.009] [Cited by in Crossref: 26] [Cited by in F6Publishing: 27] [Article Influence: 1.9] [Reference Citation Analysis]
4 Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006;79:544-8. [PMID: 16909392 DOI: 10.1086/506913] [Cited by in Crossref: 120] [Cited by in F6Publishing: 95] [Article Influence: 7.5] [Reference Citation Analysis]
5 Munro B, Horvath R, Müller JS. Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish. Hum Mol Genet 2019;28:796-803. [PMID: 30428046 DOI: 10.1093/hmg/ddy389] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
6 Jacinto S, Guerreiro P, de Oliveira RM, Cunha-Oliveira T, Santos MJ, Grazina M, Rego AC, Outeiro TF. MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile. Front Cell Neurosci 2021;15:641264. [PMID: 33815063 DOI: 10.3389/fncel.2021.641264] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
7 Zapico SC, Ubelaker DH. mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences. Aging Dis 2013;4:364-80. [PMID: 24307969 DOI: 10.14336/AD.2013.0400364] [Cited by in Crossref: 32] [Cited by in F6Publishing: 14] [Article Influence: 3.6] [Reference Citation Analysis]
8 Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids 2004;23:1217-25. [PMID: 15571233 DOI: 10.1081/NCN-200027485] [Cited by in Crossref: 15] [Cited by in F6Publishing: 8] [Article Influence: 0.9] [Reference Citation Analysis]
9 Strand MK, Stuart GR, Longley MJ, Graziewicz MA, Dominick OC, Copeland WC. POS5 gene of Saccharomyces cerevisiae encodes a mitochondrial NADH kinase required for stability of mitochondrial DNA. Eukaryot Cell 2003;2:809-20. [PMID: 12912900 DOI: 10.1128/EC.2.4.809-820.2003] [Cited by in Crossref: 82] [Cited by in F6Publishing: 36] [Article Influence: 4.6] [Reference Citation Analysis]
10 Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M. AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure. Mol Ther 2014;22:10-7. [PMID: 24247928 DOI: 10.1038/mt.2013.230] [Cited by in Crossref: 28] [Cited by in F6Publishing: 24] [Article Influence: 3.1] [Reference Citation Analysis]
11 Dimauro S. Mitochondrial medicine. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2004;1659:107-14. [DOI: 10.1016/j.bbabio.2004.08.003] [Cited by in Crossref: 39] [Cited by in F6Publishing: 35] [Article Influence: 2.2] [Reference Citation Analysis]
12 Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol 2019;15:40-52. [PMID: 30451971 DOI: 10.1038/s41582-018-0101-0] [Cited by in Crossref: 94] [Cited by in F6Publishing: 73] [Article Influence: 47.0] [Reference Citation Analysis]
13 Chinnery PF, Zeviani M. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 2008;18:259-67. [PMID: 18160290 DOI: 10.1016/j.nmd.2007.11.005] [Cited by in Crossref: 49] [Cited by in F6Publishing: 44] [Article Influence: 3.3] [Reference Citation Analysis]
14 Mégarbané A, Samaras L, Chédid R, Chouery E, Chrétien D, Caillaud C, Abou-ghoch J, Jalkh N. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: A new metabolic syndrome? Am J Med Genet 2008;146A:3198-201. [DOI: 10.1002/ajmg.a.32579] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 0.8] [Reference Citation Analysis]
15 Carvalho G, Repolês BM, Mendes I, Wanrooij PH. Mitochondrial DNA Instability in Mammalian Cells. Antioxid Redox Signal 2021. [PMID: 34015960 DOI: 10.1089/ars.2021.0091] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
16 Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Syndromes associated with mitochondrial DNA depletion. Ital J Pediatr 2014;40:34. [PMID: 24708634 DOI: 10.1186/1824-7288-40-34] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 4.0] [Reference Citation Analysis]
17 Zhou X, Johansson M, Solaroli N, Rozell B, Grandien A, Karlsson A. Hematopoiesis in the thymidine kinase 2 deficient mouse model of mitochondrial DNA depletion syndrome. J Inherit Metab Dis 2010;33:231-6. [PMID: 20440651 DOI: 10.1007/s10545-010-9102-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
18 Chinnery PF. Searching for nuclear-mitochondrial genes. Trends in Genetics 2003;19:60-2. [DOI: 10.1016/s0168-9525(02)00030-6] [Cited by in Crossref: 30] [Cited by in F6Publishing: 10] [Article Influence: 1.6] [Reference Citation Analysis]
19 Mathews CK, Song S. Maintaining precursor pools for mitochondrial DNA replication. FASEB J 2007;21:2294-303. [PMID: 17403938 DOI: 10.1096/fj.06-7977rev] [Cited by in Crossref: 27] [Cited by in F6Publishing: 27] [Article Influence: 1.8] [Reference Citation Analysis]
20 Wong LC, Brunetti-pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou P, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Mutations in theMPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 2007;46:1218-27. [DOI: 10.1002/hep.21799] [Cited by in Crossref: 85] [Cited by in F6Publishing: 80] [Article Influence: 5.7] [Reference Citation Analysis]
21 Lewis W, Day BJ, Copeland WC. Mitochondrial toxicity of NRTI antiviral drugs: an integrated cellular perspective. Nat Rev Drug Discov 2003;2:812-22. [PMID: 14526384 DOI: 10.1038/nrd1201] [Cited by in Crossref: 316] [Cited by in F6Publishing: 291] [Article Influence: 16.6] [Reference Citation Analysis]
22 Chinnery PF. Mitochondrial disease in adults: what's old and what's new? EMBO Mol Med 2015;7:1503-12. [PMID: 26612854 DOI: 10.15252/emmm.201505079] [Cited by in Crossref: 79] [Cited by in F6Publishing: 70] [Article Influence: 13.2] [Reference Citation Analysis]
23 Hargreaves IP, Rahman S, Guthrie P, Taanman J, Leonard JV, Land JM, Heales SJR. Diagnostic Value of Succinate Ubiquinone Reductase Activity in the Identification of Patients with Mitochondrial DNA Depletion. J Inherit Metab Dis 2002;25:7-16. [DOI: 10.1023/a:1015104910239] [Cited by in Crossref: 22] [Cited by in F6Publishing: 11] [Article Influence: 1.1] [Reference Citation Analysis]
24 Suomalainen A, Isohanni P. Mitochondrial DNA depletion syndromes--many genes, common mechanisms. Neuromuscul Disord 2010;20:429-37. [PMID: 20444604 DOI: 10.1016/j.nmd.2010.03.017] [Cited by in Crossref: 144] [Cited by in F6Publishing: 127] [Article Influence: 12.0] [Reference Citation Analysis]
25 Hirano M, Nishigaki Y, Martí R. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes. The Neurologist 2004;10:8-17. [DOI: 10.1097/01.nrl.0000106919.06469.04] [Cited by in Crossref: 114] [Cited by in F6Publishing: 90] [Article Influence: 6.3] [Reference Citation Analysis]
26 Choi O, Heathcote DA, Ho KK, Müller PJ, Ghani H, Lam EW, Ashton-Rickardt PG, Rutschmann S. A deficiency in nucleoside salvage impairs murine lymphocyte development, homeostasis, and survival. J Immunol 2012;188:3920-7. [PMID: 22407915 DOI: 10.4049/jimmunol.1102587] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.2] [Reference Citation Analysis]
27 Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet 2009;85:401-7. [PMID: 19732863 DOI: 10.1016/j.ajhg.2009.08.004] [Cited by in Crossref: 163] [Cited by in F6Publishing: 149] [Article Influence: 12.5] [Reference Citation Analysis]
28 Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin North Am 2003;32:789-817, v. [PMID: 14562575 DOI: 10.1016/s0889-8553(03)00052-9] [Cited by in Crossref: 23] [Cited by in F6Publishing: 9] [Article Influence: 1.2] [Reference Citation Analysis]
29 Jarrett SG, Lewin AS, Boulton ME. The importance of mitochondria in age-related and inherited eye disorders. Ophthalmic Res 2010;44:179-90. [PMID: 20829642 DOI: 10.1159/000316480] [Cited by in Crossref: 71] [Cited by in F6Publishing: 64] [Article Influence: 5.9] [Reference Citation Analysis]
30 Ciesielska EJ, Kim S, Bisimwa HM, Grier C, Rahman MM, Young CKJ, Young MJ, Oliveira MT, Ciesielski GL. Remdesivir triphosphate blocks DNA synthesis and increases exonucleolysis by the replicative mitochondrial DNA polymerase, Pol γ. Mitochondrion 2021;61:147-58. [PMID: 34619353 DOI: 10.1016/j.mito.2021.09.010] [Reference Citation Analysis]
31 Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006;114:217-238. [PMID: 16942541 DOI: 10.1111/j.1600-0404.2006.00671.x] [Cited by in Crossref: 121] [Cited by in F6Publishing: 106] [Article Influence: 7.6] [Reference Citation Analysis]
32 Niers L, Heuvel LVD, Trijbels F, Sengers R, Smeitink J. Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi. J Inherit Metab Dis 2003;26:647-58. [DOI: 10.1023/b:boli.0000005605.57420.b4] [Cited by in Crossref: 20] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
33 Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-6. [PMID: 15877282 DOI: 10.1086/430843] [Cited by in Crossref: 229] [Cited by in F6Publishing: 214] [Article Influence: 13.5] [Reference Citation Analysis]
34 Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012;135:3404-15. [PMID: 23043144 DOI: 10.1093/brain/aws258] [Cited by in Crossref: 64] [Cited by in F6Publishing: 56] [Article Influence: 6.4] [Reference Citation Analysis]
35 Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genet 2016;12:e1005779. [PMID: 26760297 DOI: 10.1371/journal.pgen.1005779] [Cited by in Crossref: 44] [Cited by in F6Publishing: 38] [Article Influence: 7.3] [Reference Citation Analysis]
36 Müller-Höcker J, Horvath R, Schäfer S, Hessel H, Müller-Felber W, Kühr J, Copeland WC, Seibel P. Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study. J Cell Mol Med 2011;15:445-56. [PMID: 19538466 DOI: 10.1111/j.1582-4934.2009.00819.x] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.0] [Reference Citation Analysis]
37 Buchaklian AH, Helbling D, Ware SM, Dimmock DP. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. Mol Genet Metab 2012;107:92-4. [PMID: 22622127 DOI: 10.1016/j.ymgme.2012.04.019] [Cited by in Crossref: 19] [Cited by in F6Publishing: 14] [Article Influence: 1.9] [Reference Citation Analysis]
38 Eriksson S, Wang L. Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism. Nucleosides Nucleotides Nucleic Acids 2008;27:800-8. [PMID: 18600543 DOI: 10.1080/15257770802146197] [Cited by in Crossref: 23] [Cited by in F6Publishing: 17] [Article Influence: 1.6] [Reference Citation Analysis]
39 Dhillon S, Hellings JA, Butler MG. Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics 2011;12:322-32. [PMID: 22294875 DOI: 10.2174/138920211796429745] [Cited by in Crossref: 38] [Cited by in F6Publishing: 38] [Article Influence: 3.8] [Reference Citation Analysis]
40 Moreira-silva H, Maio I, Bandeira A, Gomes-martins E, Santos-silva E. Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms. Eur J Pediatr 2019;178:515-23. [DOI: 10.1007/s00431-019-03328-5] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
41 Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 2007;81:383-7. [PMID: 17668387 DOI: 10.1086/519222] [Cited by in Crossref: 135] [Cited by in F6Publishing: 123] [Article Influence: 9.0] [Reference Citation Analysis]
42 Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S. POLG mutations and Alpers syndrome. Ann Neurol. 2005;57:921-923. [PMID: 15929042 DOI: 10.1002/ana.20498] [Cited by in Crossref: 85] [Cited by in F6Publishing: 74] [Article Influence: 5.0] [Reference Citation Analysis]
43 Pai CC, Kearsey SE. A Critical Balance: dNTPs and the Maintenance of Genome Stability. Genes (Basel) 2017;8:E57. [PMID: 28146119 DOI: 10.3390/genes8020057] [Cited by in Crossref: 73] [Cited by in F6Publishing: 58] [Article Influence: 14.6] [Reference Citation Analysis]
44 Caporali L, Bello L, Tagliavini F, La Morgia C, Maresca A, Di Vito L, Liguori R, Valentino ML, Cecchin D, Pegoraro E, Carelli V. DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions. Brain 2018;141:e3. [PMID: 29228108 DOI: 10.1093/brain/awx301] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
45 Hosseini SH, Kohler JJ, Haase CP, Tioleco N, Stuart T, Keebaugh E, Ludaway T, Russ R, Green E, Long R, Wang L, Eriksson S, Lewis W. Targeted transgenic overexpression of mitochondrial thymidine kinase (TK2) alters mitochondrial DNA (mtDNA) and mitochondrial polypeptide abundance: transgenic TK2, mtDNA, and antiretrovirals. Am J Pathol 2007;170:865-74. [PMID: 17322372 DOI: 10.2353/ajpath.2007.060655] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 1.7] [Reference Citation Analysis]
46 Dimauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscular Disorders 2005;15:276-86. [DOI: 10.1016/j.nmd.2004.12.008] [Cited by in Crossref: 105] [Cited by in F6Publishing: 83] [Article Influence: 6.2] [Reference Citation Analysis]
47 Saada A, Shaag A, Elpeleg O. mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab 2003;79:1-5. [PMID: 12765840 DOI: 10.1016/s1096-7192(03)00063-5] [Cited by in Crossref: 78] [Cited by in F6Publishing: 39] [Article Influence: 4.3] [Reference Citation Analysis]
48 Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, Dimauro S, Vu TH. Mitochondrial DNA depletion and dGK gene mutations: mtDNA Depletion and dGK. Ann Neurol 2002;52:311-7. [DOI: 10.1002/ana.10284] [Cited by in Crossref: 117] [Cited by in F6Publishing: 102] [Article Influence: 5.9] [Reference Citation Analysis]
49 Escames G, López LC, García JA, García-corzo L, Ortiz F, Acuña-castroviejo D. Mitochondrial DNA and inflammatory diseases. Hum Genet 2012;131:161-73. [DOI: 10.1007/s00439-011-1057-y] [Cited by in F6Publishing: 59] [Reference Citation Analysis]
50 Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4. [DOI: 10.1038/ng751] [Cited by in Crossref: 402] [Cited by in F6Publishing: 367] [Article Influence: 19.1] [Reference Citation Analysis]
51 Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol 2004;23:797-806. [PMID: 15684706 DOI: 10.1089/dna.2004.23.797] [Cited by in Crossref: 33] [Cited by in F6Publishing: 33] [Article Influence: 1.9] [Reference Citation Analysis]
52 Spinazzola A, Viscomi C, Fernandez-vizarra E, Carrara F, D'adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, Dimauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5. [DOI: 10.1038/ng1765] [Cited by in Crossref: 302] [Cited by in F6Publishing: 280] [Article Influence: 18.9] [Reference Citation Analysis]
53 Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet 2021. [PMID: 34859289 DOI: 10.1007/s00439-021-02394-w] [Reference Citation Analysis]
54 Ferraro P, Nicolosi L, Bernardi P, Reichard P, Bianchi V. Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate. Proc Natl Acad Sci U S A 2006;103:18586-91. [PMID: 17124168 DOI: 10.1073/pnas.0609020103] [Cited by in Crossref: 61] [Cited by in F6Publishing: 60] [Article Influence: 3.8] [Reference Citation Analysis]
55 Fasullo M, Endres L. Nucleotide salvage deficiencies, DNA damage and neurodegeneration. Int J Mol Sci 2015;16:9431-49. [PMID: 25923076 DOI: 10.3390/ijms16059431] [Cited by in Crossref: 46] [Cited by in F6Publishing: 42] [Article Influence: 6.6] [Reference Citation Analysis]
56 Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013;45:214-9. [PMID: 23313956 DOI: 10.1038/ng.2501] [Cited by in Crossref: 144] [Cited by in F6Publishing: 125] [Article Influence: 16.0] [Reference Citation Analysis]
57 Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Med 2003;3:129-46. [PMID: 12835509 DOI: 10.1385/NMM:3:3:129] [Cited by in Crossref: 30] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
58 Zhang J, Lieu YK, Ali AM, Penson A, Reggio KS, Rabadan R, Raza A, Mukherjee S, Manley JL. Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities. Proc Natl Acad Sci U S A 2015;112:E4726-34. [PMID: 26261309 DOI: 10.1073/pnas.1514105112] [Cited by in F6Publishing: 120] [Reference Citation Analysis]
59 St John JC, Lloyd RE, Bowles EJ, Thomas EC, El Shourbagy S. The consequences of nuclear transfer for mammalian foetal development and offspring survival. A mitochondrial DNA perspective. Reproduction 2004;127:631-41. [PMID: 15175500 DOI: 10.1530/rep.1.00138] [Cited by in Crossref: 62] [Cited by in F6Publishing: 48] [Article Influence: 3.4] [Reference Citation Analysis]
60 Desler C, Munch-Petersen B, Stevnsner T, Matsui S, Kulawiec M, Singh KK, Rasmussen LJ. Mitochondria as determinant of nucleotide pools and chromosomal stability. Mutat Res 2007;625:112-24. [PMID: 17658559 DOI: 10.1016/j.mrfmmm.2007.06.002] [Cited by in Crossref: 57] [Cited by in F6Publishing: 58] [Article Influence: 3.8] [Reference Citation Analysis]
61 Rötig A, Poulton J. Genetic causes of mitochondrial DNA depletion in humans. Biochim Biophys Acta 2009;1792:1103-8. [PMID: 19596444 DOI: 10.1016/j.bbadis.2009.06.009] [Cited by in Crossref: 61] [Cited by in F6Publishing: 59] [Article Influence: 4.7] [Reference Citation Analysis]
62 Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 2008;17:2433-40. [PMID: 18467430 DOI: 10.1093/hmg/ddn143] [Cited by in Crossref: 79] [Cited by in F6Publishing: 73] [Article Influence: 5.6] [Reference Citation Analysis]
63 Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol 2012;47:64-74. [PMID: 22176657 DOI: 10.3109/10409238.2011.632763] [Cited by in Crossref: 115] [Cited by in F6Publishing: 104] [Article Influence: 11.5] [Reference Citation Analysis]
64 DiMauro S, Hirano M. Pathogenesis and treatment of mitochondrial disorders. Adv Exp Med Biol 2009;652:139-70. [PMID: 20225024 DOI: 10.1007/978-90-481-2813-6_10] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 2.2] [Reference Citation Analysis]
65 Seneca S, Goemans N, Coster RV, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am J Med Genet 2005;137A:170-5. [DOI: 10.1002/ajmg.a.30854] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 1.3] [Reference Citation Analysis]
66 Milone M, Wong L. Diagnosis of mitochondrial myopathies. Molecular Genetics and Metabolism 2013;110:35-41. [DOI: 10.1016/j.ymgme.2013.07.007] [Cited by in Crossref: 57] [Cited by in F6Publishing: 37] [Article Influence: 6.3] [Reference Citation Analysis]
67 Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130:853-61. [DOI: 10.1093/brain/awl383] [Cited by in Crossref: 129] [Cited by in F6Publishing: 114] [Article Influence: 8.6] [Reference Citation Analysis]
68 Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A 2005;135:289-91. [PMID: 15887277 DOI: 10.1002/ajmg.a.30748] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 1.6] [Reference Citation Analysis]
69 Gu Y, Wang C, Roifman CM, Cohen A. Role of MHC class I in immune surveillance of mitochondrial DNA integrity. J Immunol 2003;170:3603-7. [PMID: 12646623 DOI: 10.4049/jimmunol.170.7.3603] [Cited by in Crossref: 16] [Cited by in F6Publishing: 20] [Article Influence: 0.8] [Reference Citation Analysis]
70 Martí R, Dorado B, Hirano M. Measurement of mitochondrial dNTP pools. Methods Mol Biol 2012;837:135-48. [PMID: 22215545 DOI: 10.1007/978-1-61779-504-6_9] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.2] [Reference Citation Analysis]
71 Wallace DC, Fan W. Energetics, epigenetics, mitochondrial genetics. Mitochondrion. 2010;10:12-31. [PMID: 19796712 DOI: 10.1016/j.mito.2009.09.006] [Cited by in Crossref: 328] [Cited by in F6Publishing: 290] [Article Influence: 25.2] [Reference Citation Analysis]
72 Lythgow KT, Hudson G, Andras P, Chinnery PF. A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization. Mitochondrion 2011;11:444-9. [PMID: 21195798 DOI: 10.1016/j.mito.2010.12.016] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
73 Frederiksen H, Berenstein D, Munch-petersen B. Effect of valine 106 on structure-function relation of cytosolic human thymidine kinase: Kinetic properties and oligomerization pattern of nine substitution mutants of V106. European Journal of Biochemistry 2004;271:2248-56. [DOI: 10.1111/j.1432-1033.2004.04166.x] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 0.6] [Reference Citation Analysis]
74 Chakrabarty S, Govindaraj P, Sankaran BP, Nagappa M, Kabekkodu SP, Jayaram P, Mallya S, Deepha S, Ponmalar JNJ, Arivinda HR, Meena AK, Jha RK, Sinha S, Gayathri N, Taly AB, Thangaraj K, Satyamoorthy K. Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. J Neurol 2021;268:2192-207. [PMID: 33484326 DOI: 10.1007/s00415-020-10390-9] [Reference Citation Analysis]
75 Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008;131:329-37. [PMID: 18065439 DOI: 10.1093/brain/awm272] [Cited by in Crossref: 285] [Cited by in F6Publishing: 244] [Article Influence: 19.0] [Reference Citation Analysis]
76 Helbling D, Buchaklian A, Wang J, Wong LJ, Dimmock D. Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr 2013;57:438-43. [PMID: 23783014 DOI: 10.1097/MPG.0b013e31829ef4b4] [Cited by in Crossref: 18] [Cited by in F6Publishing: 9] [Article Influence: 2.3] [Reference Citation Analysis]
77 Grazia TM. Inborn errors in purine metabolism: role of 5'-nucleotidases and their involvement in the etiology of neurological impairments. Nucleosides Nucleotides Nucleic Acids 2011;30:1276-83. [PMID: 22132987 DOI: 10.1080/15257770.2011.616869] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
78 Rabinowitz SS, Gelfond D, Chen CK, Gloster ES, Whitington PF, Sacconi S, Salviati L, DiMauro S. Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. J Pediatr Gastroenterol Nutr 2004;38:216-20. [PMID: 14734888 DOI: 10.1097/00005176-200402000-00022] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 1.1] [Reference Citation Analysis]
79 Debray FG, Lambert M, Mitchell GA. Disorders of mitochondrial function. Curr Opin Pediatr. 2008;20:471-482. [PMID: 18622207 DOI: 10.1097/mop.0b013e328306ebb6] [Cited by in Crossref: 55] [Cited by in F6Publishing: 24] [Article Influence: 3.9] [Reference Citation Analysis]
80 Sun R, Eriksson S, Wang L. The expression and activity of thymidine kinase 1 and deoxycytidine kinase are modulated by hydrogen peroxide and nucleoside analogs. Nucleosides Nucleotides Nucleic Acids 2020;39:1347-58. [PMID: 32189555 DOI: 10.1080/15257770.2020.1720234] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
81 Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet 2011;52:61-6. [PMID: 21107780 DOI: 10.1007/s13353-010-0008-y] [Cited by in Crossref: 29] [Cited by in F6Publishing: 29] [Article Influence: 2.4] [Reference Citation Analysis]
82 Ferraro P, Pontarin G, Crocco L, Fabris S, Reichard P, Bianchi V. Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J Biol Chem 2005;280:24472-80. [PMID: 15878850 DOI: 10.1074/jbc.M502869200] [Cited by in Crossref: 66] [Cited by in F6Publishing: 40] [Article Influence: 3.9] [Reference Citation Analysis]
83 Chinnery PF. New approaches to the treatment of mitochondrial disorders. Reprod Biomed Online 2004;8:16-23. [PMID: 14759282 DOI: 10.1016/s1472-6483(10)60494-4] [Cited by in Crossref: 13] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
84 Reichenbach J, Schubert R, Horvàth R, Petersen J, Fütterer N, Malle E, Stumpf A, Gebhardt BR, Koehl U, Schraven B, Zielen S. Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. Pediatr Res 2006;60:321-6. [PMID: 16857757 DOI: 10.1203/01.pdr.0000233252.60457.cf] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 1.4] [Reference Citation Analysis]
85 Al-hussaini A, Faqeih E, El-hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure. The Journal of Pediatrics 2014;164:553-559.e2. [DOI: 10.1016/j.jpeds.2013.10.082] [Cited by in Crossref: 31] [Cited by in F6Publishing: 22] [Article Influence: 3.9] [Reference Citation Analysis]
86 Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP. Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension. Hepatology 2016;63:1977-86. [PMID: 26874653 DOI: 10.1002/hep.28499] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 3.3] [Reference Citation Analysis]
87 Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 2010;19:140-6. [PMID: 20138553 DOI: 10.1016/j.seizure.2010.01.002] [Cited by in Crossref: 97] [Cited by in F6Publishing: 83] [Article Influence: 8.1] [Reference Citation Analysis]
88 Wang L, Saada A, Eriksson S. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. J Biol Chem 2003;278:6963-8. [PMID: 12493767 DOI: 10.1074/jbc.M206143200] [Cited by in Crossref: 62] [Cited by in F6Publishing: 21] [Article Influence: 3.1] [Reference Citation Analysis]
89 Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006;34:177-85. [PMID: 16504786 DOI: 10.1016/j.pediatrneurol.2005.07.013] [Cited by in Crossref: 50] [Cited by in F6Publishing: 45] [Article Influence: 3.1] [Reference Citation Analysis]
90 Filosto M, Mancuso M. Mitochondrial diseases: a nosological update. Acta Neurol Scand 2007;115:211-21. [DOI: 10.1111/j.1600-0404.2006.00777.x] [Cited by in Crossref: 31] [Cited by in F6Publishing: 29] [Article Influence: 2.1] [Reference Citation Analysis]
91 Mahjoub G, Habibzadeh P, Dastsooz H, Mirzaei M, Kavosi A, Jamali L, Javanmardi H, Katibeh P, Faghihi MA, Dastgheib SA. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series. BMC Med Genet 2019;20:167. [PMID: 31664948 DOI: 10.1186/s12881-019-0893-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
92 Cámara Y, González-Vioque E, Scarpelli M, Torres-Torronteras J, Caballero A, Hirano M, Martí R. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 2014;23:2459-67. [PMID: 24362886 DOI: 10.1093/hmg/ddt641] [Cited by in Crossref: 51] [Cited by in F6Publishing: 46] [Article Influence: 5.7] [Reference Citation Analysis]
93 Lam W, Chen C, Ruan S, Leung CH, Cheng YC. Expression of deoxynucleotide carrier is not associated with the mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside analogs and mitochondrial dNTP uptake. Mol Pharmacol 2005;67:408-16. [PMID: 15539640 DOI: 10.1124/mol.104.007120] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 1.1] [Reference Citation Analysis]
94 Vallance H. Biochemical Approach to the Investigation of Pediatric Mitochondrial Disease. Pediatr Dev Pathol 2004;7:633-6. [DOI: 10.1007/s10024-004-5053-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
95 Chinnery PF, DiMauro S. Mitochondrial hepatopathies. J Hepatol 2005;43:207-9. [PMID: 15964657 DOI: 10.1016/j.jhep.2005.05.012] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 0.9] [Reference Citation Analysis]
96 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
97 Ashley N, Harris D, Poulton J. Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining. Exp Cell Res 2005;303:432-46. [PMID: 15652355 DOI: 10.1016/j.yexcr.2004.10.013] [Cited by in Crossref: 103] [Cited by in F6Publishing: 100] [Article Influence: 5.7] [Reference Citation Analysis]
98 Singh B, Schoeb TR, Bajpai P, Slominski A, Singh KK. Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function. Cell Death Dis 2018;9:735. [PMID: 30026579 DOI: 10.1038/s41419-018-0765-9] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 8.5] [Reference Citation Analysis]
99 Hänninen RL, Ahonen S, Màrquez M, Myöhänen MJ, Hytönen MK, Lohi H. Canine MPV17 truncation without clinical manifestations. Biol Open 2015;4:1253-8. [PMID: 26353863 DOI: 10.1242/bio.013870] [Reference Citation Analysis]
100 Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Döbeln U, Karlsson A, Larsson NG. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. Neuromuscul Disord 2010;20:198-203. [PMID: 20083405 DOI: 10.1016/j.nmd.2009.11.013] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 2.8] [Reference Citation Analysis]
101 Wanrooij PH, Engqvist MKM, Forslund JME, Navarrete C, Nilsson AK, Sedman J, Wanrooij S, Clausen AR, Chabes A. Ribonucleotides incorporated by the yeast mitochondrial DNA polymerase are not repaired. Proc Natl Acad Sci U S A 2017;114:12466-71. [PMID: 29109257 DOI: 10.1073/pnas.1713085114] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 4.4] [Reference Citation Analysis]
102 Vilà MR, Villarroya J, García-Arumí E, Castellote A, Meseguer A, Hirano M, Roig M. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency. J Neurol Sci 2008;267:137-41. [PMID: 18021809 DOI: 10.1016/j.jns.2007.10.019] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.0] [Reference Citation Analysis]
103 DiMauro S, Garone C. Historical perspective on mitochondrial medicine. Dev Disabil Res Rev 2010;16:106-13. [PMID: 20818724 DOI: 10.1002/ddrr.102] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
104 Lee YY, Park KS, Pak YK, Lee HK. The role of mitochondrial DNA in the development of type 2 diabetes caused by fetal malnutrition. J Nutr Biochem. 2005;16:195-204. [PMID: 15808323 DOI: 10.1016/j.jnutbio.2004.11.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 21] [Article Influence: 1.6] [Reference Citation Analysis]
105 Curbo S, Amiri M, Foroogh F, Johansson M, Karlsson A. The Drosophila melanogaster UMP-CMP kinase cDNA encodes an N-terminal mitochondrial import signal. Biochem Biophys Res Commun 2003;311:440-5. [PMID: 14592433 DOI: 10.1016/j.bbrc.2003.10.018] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 0.6] [Reference Citation Analysis]
106 Filograna R, Mennuni M, Alsina D, Larsson NG. Mitochondrial DNA copy number in human disease: the more the better? FEBS Lett 2021;595:976-1002. [PMID: 33314045 DOI: 10.1002/1873-3468.14021] [Cited by in Crossref: 11] [Cited by in F6Publishing: 16] [Article Influence: 5.5] [Reference Citation Analysis]
107 Yamazaki T, Murayama K, Compton AG, Sugiana C, Harashima H, Amemiya S, Ajima M, Tsuruoka T, Fujinami A, Kawachi E, Kurashige Y, Matsushita K, Wakiguchi H, Mori M, Iwasa H, Okazaki Y, Thorburn DR, Ohtake A. Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome. Pediatr Int 2014;56:180-7. [PMID: 24266892 DOI: 10.1111/ped.12249] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.5] [Reference Citation Analysis]
108 Krauss J, Astrinidis P, Astrinides P, Frohnhöfer HG, Walderich B, Nüsslein-Volhard C. transparent, a gene affecting stripe formation in Zebrafish, encodes the mitochondrial protein Mpv17 that is required for iridophore survival. Biol Open 2013;2:703-10. [PMID: 23862018 DOI: 10.1242/bio.20135132] [Cited by in Crossref: 74] [Cited by in F6Publishing: 63] [Article Influence: 8.2] [Reference Citation Analysis]
109 Baron M, Kudin A, Kunz W. Mitochondrial dysfunction in neurodegenerative disorders. Biochemical Society Transactions 2007;35:1228-31. [DOI: 10.1042/bst0351228] [Cited by in Crossref: 52] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
110 Hunsucker SA, Mitchell BS, Spychala J. The 5'-nucleotidases as regulators of nucleotide and drug metabolism. Pharmacol Ther 2005;107:1-30. [PMID: 15963349 DOI: 10.1016/j.pharmthera.2005.01.003] [Cited by in Crossref: 188] [Cited by in F6Publishing: 175] [Article Influence: 11.1] [Reference Citation Analysis]
111 Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. Eur J Paediatr Neurol 2012;16:542-8. [PMID: 22342071 DOI: 10.1016/j.ejpn.2012.01.013] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 1.4] [Reference Citation Analysis]
112 Spinazzola A, Zeviani M. Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes. Adv Exp Med Biol 2009;652:69-84. [PMID: 20225020 DOI: 10.1007/978-90-481-2813-6_6] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 1.8] [Reference Citation Analysis]
113 Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;:CD004426. [PMID: 22513923 DOI: 10.1002/14651858.CD004426.pub3] [Cited by in Crossref: 79] [Cited by in F6Publishing: 105] [Article Influence: 7.9] [Reference Citation Analysis]
114 Bortot B, Barbi E, Biffi S, Lunazzi G, Bussani R, Burlina A, Norbedo S, Ventura A, Carrozzi M, Severini G. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction. Digestive and Liver Disease 2009;41:494-9. [DOI: 10.1016/j.dld.2008.11.013] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
115 Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M. Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet 2009;18:12-26. [PMID: 18818194 DOI: 10.1093/hmg/ddn309] [Cited by in Crossref: 69] [Cited by in F6Publishing: 67] [Article Influence: 4.9] [Reference Citation Analysis]
116 McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010;9:829-40. [PMID: 20650404 DOI: 10.1016/S1474-4422(10)70116-2] [Cited by in Crossref: 177] [Cited by in F6Publishing: 90] [Article Influence: 14.8] [Reference Citation Analysis]
117 Parikh S. The neurologic manifestations of mitochondrial disease. Dev Disabil Res Rev 2010;16:120-8. [PMID: 20818726 DOI: 10.1002/ddrr.110] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.0] [Reference Citation Analysis]
118 Dawson ER, Patananan AN, Sercel AJ, Teitell MA. Stable retention of chloramphenicol-resistant mtDNA to rescue metabolically impaired cells. Sci Rep 2020;10:14328. [PMID: 32868785 DOI: 10.1038/s41598-020-71199-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
119 Tulinius M, Oldfors A. Neonatal muscular manifestations in mitochondrial disorders. Semin Fetal Neonatal Med 2011;16:229-35. [PMID: 21596636 DOI: 10.1016/j.siny.2011.04.001] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 1.1] [Reference Citation Analysis]
120 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology. 2007;45:1555-1565. [PMID: 17538929 DOI: 10.1002/hep.21710] [Cited by in Crossref: 80] [Cited by in F6Publishing: 59] [Article Influence: 5.3] [Reference Citation Analysis]
121 Falk MJ. Neurodevelopmental manifestations of mitochondrial disease. J Dev Behav Pediatr 2010;31:610-21. [PMID: 20814259 DOI: 10.1097/DBP.0b013e3181ef42c1] [Cited by in Crossref: 28] [Cited by in F6Publishing: 14] [Article Influence: 2.3] [Reference Citation Analysis]
122 Jing R, Corbett JL, Cai J, Beeson GC, Beeson CC, Chan SS, Dimmock DP, Lazcares L, Geurts AM, Lemasters JJ, Duncan SA. A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. Cell Rep 2018;25:1469-1484.e5. [PMID: 30404003 DOI: 10.1016/j.celrep.2018.10.036] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 7.3] [Reference Citation Analysis]
123 Mcfarland R, Taylor R, Turnbull D. Mitochondrial Disease—Its Impact, Etiology, and Pathology. The Mitochondrion in the Germline and Early Development. Elsevier; 2007. pp. 113-55. [DOI: 10.1016/s0070-2153(06)77005-3] [Cited by in Crossref: 131] [Cited by in F6Publishing: 67] [Article Influence: 8.7] [Reference Citation Analysis]
124 Munnich A, Rötig A, Rio M. Defects of the Respiratory Chain. In: Saudubray J, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2012. pp. 223-38. [DOI: 10.1007/978-3-642-15720-2_15] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
125 Morten KJ, Ashley N, Wijburg F, Hadzic N, Parr J, Jayawant S, Adams S, Bindoff L, Bakker HD, Mieli-vergani G, Zeviani M, Poulton J. Liver mtDNA content increases during development: A comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 2007;7:386-95. [DOI: 10.1016/j.mito.2007.09.001] [Cited by in Crossref: 43] [Cited by in F6Publishing: 37] [Article Influence: 2.9] [Reference Citation Analysis]
126 Ducluzeau P, Lachaux A, Bouvier R, Duborjal H, Stepien G, Bozon D, Mousson de Camaret B. Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion. Journal of Hepatology 2002;36:698-703. [DOI: 10.1016/s0168-8278(02)00021-1] [Cited by in Crossref: 16] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
127 Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman J, Rotig A, Zeviani M, Fratter C. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2009;1792:1109-12. [DOI: 10.1016/j.bbadis.2009.08.016] [Cited by in Crossref: 33] [Cited by in F6Publishing: 29] [Article Influence: 2.5] [Reference Citation Analysis]
128 Bonnemains C, Berthelot J, Mousson de Camaret B, Chomienne F, Duveau E, Giniès J. Cytopathie mitochondriale : une cause inhabituelle d’atrophie villositaire totale chez le nourrisson. Archives de Pédiatrie 2004;11:118-21. [DOI: 10.1016/j.arcped.2003.10.012] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
129 Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease in pregnancy: a systematic review. Obstet Med 2011;4:90-4. [PMID: 27579099 DOI: 10.1258/om.2011.110008] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
130 Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-12. [PMID: 15122711 DOI: 10.1002/ana.20079] [Cited by in Crossref: 311] [Cited by in F6Publishing: 265] [Article Influence: 17.3] [Reference Citation Analysis]
131 Spinazzola A, Zeviani M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J Intern Med 2009;265:174-92. [PMID: 19192035 DOI: 10.1111/j.1365-2796.2008.02059.x] [Cited by in Crossref: 48] [Cited by in F6Publishing: 39] [Article Influence: 3.7] [Reference Citation Analysis]
132 Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl 2014;20:464-72. [PMID: 24478274 DOI: 10.1002/lt.23830] [Cited by in Crossref: 28] [Cited by in F6Publishing: 22] [Article Influence: 3.5] [Reference Citation Analysis]
133 Gandhi VV, Samuels DC. Correlated tissue expression of genes of cytoplasmic and mitochondrial nucleotide metabolisms in normal tissues is disrupted in transformed tissues. Nucleosides Nucleotides Nucleic Acids 2012;31:112-29. [PMID: 22303991 DOI: 10.1080/15257770.2011.644101] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
134 Finsterer J, Ahting U. Mitochondrial depletion syndromes in children and adults. Can J Neurol Sci 2013;40:635-44. [PMID: 23968935 DOI: 10.1017/s0317167100014852] [Cited by in Crossref: 20] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
135 Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R. Therapy Prospects for Mitochondrial DNA Maintenance Disorders. Int J Mol Sci 2021;22:6447. [PMID: 34208592 DOI: 10.3390/ijms22126447] [Reference Citation Analysis]
136 Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr 2009;49:130-2. [PMID: 19502998 DOI: 10.1097/MPG.0b013e31819de7a6] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
137 Ylikallio E, Page JL, Xu X, Lampinen M, Bepler G, Ide T, Tyynismaa H, Weiss RS, Suomalainen A. Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice. Nucleic Acids Res 2010;38:8208-18. [PMID: 20724444 DOI: 10.1093/nar/gkq735] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 1.8] [Reference Citation Analysis]
138 Franco M, Johansson M, Karlsson A. Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells. Exp Cell Res 2007;313:2687-94. [PMID: 17490647 DOI: 10.1016/j.yexcr.2007.04.003] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 0.3] [Reference Citation Analysis]
139 Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O. Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency. Biochem Biophys Res Commun 2003;310:963-6. [PMID: 14550298 DOI: 10.1016/j.bbrc.2003.09.104] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 1.6] [Reference Citation Analysis]
140 Carling PJ, Cree LM, Chinnery PF. The implications of mitochondrial DNA copy number regulation during embryogenesis. Mitochondrion 2011;11:686-92. [PMID: 21635974 DOI: 10.1016/j.mito.2011.05.004] [Cited by in Crossref: 57] [Cited by in F6Publishing: 54] [Article Influence: 5.2] [Reference Citation Analysis]
141 Chabi B, Adhihetty PJ, Ljubicic V, Hood DA. How is Mitochondrial Biogenesis Affected in Mitochondrial Disease?: . Medicine & Science in Sports & Exercise 2005;37:2102-10. [DOI: 10.1249/01.mss.0000177426.68149.83] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 1.6] [Reference Citation Analysis]
142 Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol. 2002;52:211-219. [PMID: 12210792 DOI: 10.1002/ana.10278] [Cited by in Crossref: 173] [Cited by in F6Publishing: 159] [Article Influence: 8.7] [Reference Citation Analysis]
143 El-hattab AW, Li F, Schmitt E, Zhang S, Craigen WJ, Wong LC. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations. Molecular Genetics and Metabolism 2010;99:300-8. [DOI: 10.1016/j.ymgme.2009.10.003] [Cited by in Crossref: 61] [Cited by in F6Publishing: 56] [Article Influence: 5.1] [Reference Citation Analysis]
144 Goldstein A, Bhatia P, Vento JM. Update on nuclear mitochondrial genes and neurologic disorders. Semin Pediatr Neurol 2012;19:181-93. [PMID: 23245551 DOI: 10.1016/j.spen.2012.09.005] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
145 Camici M, Micheli V, Ipata PL, Tozzi MG. Pediatric neurological syndromes and inborn errors of purine metabolism. Neurochem Int 2010;56:367-78. [PMID: 20005278 DOI: 10.1016/j.neuint.2009.12.003] [Cited by in Crossref: 52] [Cited by in F6Publishing: 49] [Article Influence: 4.0] [Reference Citation Analysis]
146 Kirby DM, Thorburn DR. Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders. Twin Res Hum Genet 2008;11:395-411. [PMID: 18637740 DOI: 10.1375/twin.11.4.395] [Cited by in Crossref: 37] [Cited by in F6Publishing: 36] [Article Influence: 2.8] [Reference Citation Analysis]
147 Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK. Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties. PLoS One 2015;10:e0139846. [PMID: 26468652 DOI: 10.1371/journal.pone.0139846] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 2.3] [Reference Citation Analysis]
148 Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell Biol. 2007;80:93-119. [PMID: 17445690 DOI: 10.1016/s0091-679x(06)80004-x] [Cited by in Crossref: 255] [Cited by in F6Publishing: 152] [Article Influence: 17.0] [Reference Citation Analysis]
149 McKee EE, Bentley AT, Hatch M, Gingerich J, Susan-Resiga D. Phosphorylation of thymidine and AZT in heart mitochondria: elucidation of a novel mechanism of AZT cardiotoxicity. Cardiovasc Toxicol 2004;4:155-67. [PMID: 15371631 DOI: 10.1385/ct:4:2:155] [Cited by in Crossref: 46] [Cited by in F6Publishing: 23] [Article Influence: 2.7] [Reference Citation Analysis]
150 Basel D. Mitochondrial DNA Depletion Syndromes. Clinics in Perinatology 2020;47:123-41. [DOI: 10.1016/j.clp.2019.10.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
151 Ciliberti N, Manfredini S, Angusti A, Durini E, Solaroli N, Vertuani S, Buzzoni L, Bonache MC, Ben-shalom E, Karlsson A, Saada A, Balzarini J. Novel selective human mitochondrial kinase inhibitors: Design, synthesis and enzymatic activity. Bioorganic & Medicinal Chemistry 2007;15:3065-81. [DOI: 10.1016/j.bmc.2007.01.049] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.4] [Reference Citation Analysis]
152 Mirzaee S, Eriksson S, Albertioni F. Differences in cytosolic and mitochondrial 5'-nucleotidase and deoxynucleoside kinase activities in Sprague-Dawley rat and CD-1 mouse tissues: implication for the toxicity of nucleoside analogs in animal models. Toxicology 2010;267:159-64. [PMID: 19913594 DOI: 10.1016/j.tox.2009.11.009] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
153 Ahmed N, Ronchi D, Comi GP. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability. Int J Mol Sci 2015;16:18054-76. [PMID: 26251896 DOI: 10.3390/ijms160818054] [Cited by in Crossref: 19] [Cited by in F6Publishing: 14] [Article Influence: 2.7] [Reference Citation Analysis]
154 Wallace DC. Bioenergetic origins of complexity and disease. Cold Spring Harb Symp Quant Biol 2011;76:1-16. [PMID: 22194359 DOI: 10.1101/sqb.2011.76.010462] [Cited by in Crossref: 77] [Cited by in F6Publishing: 72] [Article Influence: 7.0] [Reference Citation Analysis]
155 Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM. Infantile Mitochondrial Disorders. Bioscience Reports 2007;27:105-12. [DOI: 10.1007/s10540-007-9039-y] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
156 Rötig A. Genetic bases of mitochondrial respiratory chain disorders. Diabetes Metab 2010;36:97-107. [PMID: 20093061 DOI: 10.1016/j.diabet.2009.11.002] [Cited by in Crossref: 29] [Cited by in F6Publishing: 25] [Article Influence: 2.4] [Reference Citation Analysis]
157 Van Rompay AR, Johansson M, Karlsson A. Substrate specificity and phosphorylation of antiviral and anticancer nucleoside analogues by human deoxyribonucleoside kinases and ribonucleoside kinases. Pharmacol Ther 2003;100:119-39. [PMID: 14609716 DOI: 10.1016/j.pharmthera.2003.07.001] [Cited by in Crossref: 101] [Cited by in F6Publishing: 94] [Article Influence: 5.6] [Reference Citation Analysis]
158 Rötig A. Genetics of mitochondrial respiratory chain deficiencies. Revue Neurologique 2014;170:309-22. [DOI: 10.1016/j.neurol.2013.11.006] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
159 Munch-petersen B, Piškur J. Deoxynucleoside Kinases and Their Potential Role in Deoxynucleoside Cytotoxicity. In: Peters GJ, editor. Deoxynucleoside Analogs In Cancer Therapy. Totowa: Humana Press; 2007. pp. 53-79. [DOI: 10.1007/978-1-59745-148-2_3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
160 Clayton PT. Inborn errors presenting with liver dysfunction. Semin Neonatol 200 2; 7: 49-63. . [PMID: 12069538 DOI: 10.1053/siny.2001.0086] [Cited by in Crossref: 44] [Cited by in F6Publishing: 25] [Article Influence: 2.2] [Reference Citation Analysis]
161 Moslemi A, Darin N. Molecular genetic and clinical aspects of mitochondrial disorders in childhood. Mitochondrion 2007;7:241-52. [DOI: 10.1016/j.mito.2007.02.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 27] [Article Influence: 1.8] [Reference Citation Analysis]
162 Suomalainen A, Battersby BJ. Mitochondrial diseases: the contribution of organelle stress responses to pathology. Nat Rev Mol Cell Biol 2018;19:77-92. [DOI: 10.1038/nrm.2017.66] [Cited by in Crossref: 175] [Cited by in F6Publishing: 156] [Article Influence: 35.0] [Reference Citation Analysis]
163 Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2005;354:162-8. [PMID: 15921863 DOI: 10.1016/j.gene.2005.03.025] [Cited by in Crossref: 82] [Cited by in F6Publishing: 74] [Article Influence: 4.8] [Reference Citation Analysis]
164 Tulinius M, Moslemi A, Darin N, Holme E, Oldfors A. Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion. Neuromuscular Disorders 2005;15:412-5. [DOI: 10.1016/j.nmd.2005.03.010] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 1.0] [Reference Citation Analysis]
165 Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides Nucleotides Nucleic Acids 2004;23:1205-15. [PMID: 15571232 DOI: 10.1081/NCN-200027480] [Cited by in Crossref: 13] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
166 Malka F, Lombès A, Rojo M. Organization, dynamics and transmission of mitochondrial DNA: focus on vertebrate nucleoids. Biochim Biophys Acta 2006;1763:463-72. [PMID: 16730385 DOI: 10.1016/j.bbamcr.2006.04.001] [Cited by in Crossref: 38] [Cited by in F6Publishing: 39] [Article Influence: 2.4] [Reference Citation Analysis]
167 Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006;:CD004426. [PMID: 16437486 DOI: 10.1002/14651858.CD004426.pub2] [Cited by in Crossref: 31] [Cited by in F6Publishing: 33] [Article Influence: 1.9] [Reference Citation Analysis]
168 Tanji K, Bhagat G, Vu TH, Monzon L, Bonilla E, Lefkowitch JH. Mitochondrial DNA dysfunction in oncocytic hepatocytes: Mitochondrial DNA in oncocytes. Liver International 2003;23:397-403. [DOI: 10.1034/j.1478-3231.2003.00864.x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 6] [Article Influence: 0.6] [Reference Citation Analysis]
169 Kelley RE, Andersson HC. Disorders of purines and pyrimidines. Neurologic Aspects of Systemic Disease Part II. Elsevier; 2014. pp. 827-38. [DOI: 10.1016/b978-0-7020-4087-0.00055-3] [Cited by in Crossref: 19] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
170 Rötig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont J, Munnich A. Molecular diagnostics of mitochondrial disorders. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2004;1659:129-35. [DOI: 10.1016/j.bbabio.2004.07.007] [Cited by in Crossref: 31] [Cited by in F6Publishing: 24] [Article Influence: 1.7] [Reference Citation Analysis]
171 Chinnery PF, Schon EA. Mitochondria. J Neurol Neurosurg Psychiatry 2003;74:1188-99. [PMID: 12933917 DOI: 10.1136/jnnp.74.9.1188] [Cited by in Crossref: 114] [Cited by in F6Publishing: 91] [Article Influence: 6.0] [Reference Citation Analysis]
172 Cohen BH, Naviaux RK. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods 2010;51:364-73. [DOI: 10.1016/j.ymeth.2010.05.008] [Cited by in Crossref: 75] [Cited by in F6Publishing: 62] [Article Influence: 6.3] [Reference Citation Analysis]
173 Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A. Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD Rep 2013;11:117-23. [PMID: 23625533 DOI: 10.1007/8904_2013_230] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 2.7] [Reference Citation Analysis]
174 Frangini M, Rampazzo C, Franzolin E, Lara MC, Vilà MR, Martí R, Bianchi V. Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts. FEBS J 2009;276:1104-13. [PMID: 19154348 DOI: 10.1111/j.1742-4658.2008.06853.x] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 0.8] [Reference Citation Analysis]
175 Lewis W. Defective mitochondrial DNA replication and NRTIs: pathophysiological implications in AIDS cardiomyopathy. American Journal of Physiology-Heart and Circulatory Physiology 2003;284:H1-9. [DOI: 10.1152/ajpheart.00814.2002] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 1.3] [Reference Citation Analysis]
176 Chinnery PF. Inheritance of mitochondrial disorders. Mitochondrion 2002;2:149-55. [DOI: 10.1016/s1567-7249(02)00046-6] [Cited by in Crossref: 18] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
177 Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet 2012;21:66-75. [PMID: 21937588 DOI: 10.1093/hmg/ddr438] [Cited by in Crossref: 61] [Cited by in F6Publishing: 55] [Article Influence: 5.5] [Reference Citation Analysis]
178 Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman J, Gottrand F, Lombès A. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. Journal of Hepatology 2005;43:333-41. [DOI: 10.1016/j.jhep.2005.03.023] [Cited by in Crossref: 57] [Cited by in F6Publishing: 45] [Article Influence: 3.4] [Reference Citation Analysis]
179 Ghezzi D, Zeviani M. Mitochondrial Disorders: Nuclear Gene Mutations. eLS. Chichester: John Wiley & Sons, Ltd; 2001. [DOI: 10.1002/9780470015902.a0005540.pub2] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
180 Borchert A, Wolf NI, Wilichowski E. Current concepts of mitochondrial disorders in childhood. Semin Pediatr Neurol 2002;9:151-9. [PMID: 12138999 DOI: 10.1053/spen.2002.33800] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 0.6] [Reference Citation Analysis]
181 Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 2012;107:403-8. [PMID: 23010432 DOI: 10.1016/j.ymgme.2012.08.020] [Cited by in Crossref: 30] [Cited by in F6Publishing: 31] [Article Influence: 3.0] [Reference Citation Analysis]
182 Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A. Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing. J Inherit Metab Dis 2010;33 Suppl 3:S293-6. [PMID: 20614188 DOI: 10.1007/s10545-010-9155-x] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
183 Lynx MD, Bentley AT, McKee EE. 3'-Azido-3'-deoxythymidine (AZT) inhibits thymidine phosphorylation in isolated rat liver mitochondria: a possible mechanism of AZT hepatotoxicity. Biochem Pharmacol 2006;71:1342-8. [PMID: 16472780 DOI: 10.1016/j.bcp.2006.01.003] [Cited by in Crossref: 39] [Cited by in F6Publishing: 35] [Article Influence: 2.4] [Reference Citation Analysis]
184 Komulainen T, Hautakangas MR, Hinttala R, Pakanen S, Vähäsarja V, Lehenkari P, Olsen P, Vieira P, Saarenpää-Heikkilä O, Palmio J, Tuominen H, Kinnunen P, Majamaa K, Rantala H, Uusimaa J. Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. JIMD Rep 2015;23:91-100. [PMID: 25940035 DOI: 10.1007/8904_2015_438] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
185 Poulton J, Holt IJ. 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 2009;19:439-43. [PMID: 19464176 DOI: 10.1016/j.nmd.2009.04.009] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 0.8] [Reference Citation Analysis]
186 Singh KK, Ayyasamy V, Owens KM, Koul MS, Vujcic M. Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis. J Hum Genet. 2009;54:516-524. [PMID: 19629138 DOI: 10.1038/jhg.2009.71] [Cited by in Crossref: 84] [Cited by in F6Publishing: 83] [Article Influence: 6.5] [Reference Citation Analysis]
187 Wallace DC, Fan W, Procaccio V. Mitochondrial energetics and therapeutics. Annu Rev Pathol 2010;5:297-348. [PMID: 20078222 DOI: 10.1146/annurev.pathol.4.110807.092314] [Cited by in Crossref: 431] [Cited by in F6Publishing: 395] [Article Influence: 35.9] [Reference Citation Analysis]
188 Feigenbaum A. Answers to missing mtDNA found at last. Pediatr Res 2002;52:319-20. [PMID: 12193660 DOI: 10.1203/00006450-200209000-00001] [Cited by in Crossref: 2] [Article Influence: 0.1] [Reference Citation Analysis]
189 Nikkanen J, Forsström S, Euro L, Paetau I, Kohnz RA, Wang L, Chilov D, Viinamäki J, Roivainen A, Marjamäki P, Liljenbäck H, Ahola S, Buzkova J, Terzioglu M, Khan NA, Pirnes-Karhu S, Paetau A, Lönnqvist T, Sajantila A, Isohanni P, Tyynismaa H, Nomura DK, Battersby BJ, Velagapudi V, Carroll CJ, Suomalainen A. Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism. Cell Metab 2016;23:635-48. [PMID: 26924217 DOI: 10.1016/j.cmet.2016.01.019] [Cited by in Crossref: 146] [Cited by in F6Publishing: 135] [Article Influence: 24.3] [Reference Citation Analysis]
190 Shlush LI, Behar DM, Yudkovsky G, Templeton A, Hadid Y, Basis F, Hammer M, Itzkovitz S, Skorecki K. The Druze: a population genetic refugium of the Near East. PLoS One 2008;3:e2105. [PMID: 18461126 DOI: 10.1371/journal.pone.0002105] [Cited by in Crossref: 31] [Cited by in F6Publishing: 28] [Article Influence: 2.2] [Reference Citation Analysis]
191 Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 2008;18:453-9. [PMID: 18504129 DOI: 10.1016/j.nmd.2008.04.006] [Cited by in Crossref: 62] [Cited by in F6Publishing: 50] [Article Influence: 4.4] [Reference Citation Analysis]
192 Bjerke M, Solaroli N, Lesko N, Balzarini J, Johansson M, Karlsson A. Retained sensitivity to cytotoxic pyrimidine nucleoside analogs in thymidine kinase 2 deficient human fibroblasts. Nucleosides Nucleotides Nucleic Acids 2010;29:1-13. [PMID: 20391188 DOI: 10.1080/15257770903454490] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
193 Marie S, van den Berghe G, Vincent M. Disorders of Purine and Pyrimidine Metabolism. In: Saudubray J, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2016. pp. 495-513. [DOI: 10.1007/978-3-662-49771-5_35] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
194 Rivera H, Merinero B, Martinez-Pardo M, Arroyo I, Ruiz-Sala P, Bornstein B, Serra-Suhe C, Gallardo E, Marti R, Moran MJ, Ugalde C, Perez-Jurado LA, Andreu AL, Garesse R, Ugarte M, Arenas J, Martin MA. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Mitochondrion 2010;10:362-8. [PMID: 20227526 DOI: 10.1016/j.mito.2010.03.003] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 2.2] [Reference Citation Analysis]
195 Limongelli A, Tiranti V. Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA. Mitochondrion 2002;2:39-46. [PMID: 16120307 DOI: 10.1016/s1567-7249(02)00043-0] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
196 Saneto RP. Genetics of Mitochondrial Disease. Adv Genet 2017;98:63-116. [PMID: 28942795 DOI: 10.1016/bs.adgen.2017.06.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
197 McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). BMJ Case Rep 2009;2009:bcr12. [PMID: 21686371 DOI: 10.1136/bcr.12.2008.1303] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.2] [Reference Citation Analysis]
198 Bindoff L. Mitochondrial Dysfunction and the Gastrointestinal System. Mitochondrial Disorders. Paris: Springer; 2002. pp. 275-85. [DOI: 10.1007/978-2-8178-0929-8_23] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
199 Sezer T, Ozçay F, Balci O, Alehan F. Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome. J Child Neurol 2015;30:124-8. [DOI: 10.1177/0883073813517000] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 1.1] [Reference Citation Analysis]
200 Saada A. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. Mol Genet Metab 2008;95:169-73. [PMID: 18723380 DOI: 10.1016/j.ymgme.2008.07.007] [Cited by in Crossref: 28] [Cited by in F6Publishing: 26] [Article Influence: 2.0] [Reference Citation Analysis]
201 Bartesaghi S, Betts-Henderson J, Cain K, Dinsdale D, Zhou X, Karlsson A, Salomoni P, Nicotera P. Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration. Hum Mol Genet 2010;19:1669-77. [PMID: 20123860 DOI: 10.1093/hmg/ddq043] [Cited by in Crossref: 23] [Cited by in F6Publishing: 21] [Article Influence: 1.9] [Reference Citation Analysis]
202 Bourdon A, Minai L, Serre V, Jais J, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-80. [DOI: 10.1038/ng2040] [Cited by in Crossref: 386] [Cited by in F6Publishing: 379] [Article Influence: 25.7] [Reference Citation Analysis]
203 Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. BMC Clin Pathol 2009;9:4. [PMID: 19500334 DOI: 10.1186/1472-6890-9-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 1.1] [Reference Citation Analysis]
204 Taanman J, Llewelyn Williams S. The Human Mitochondrial Genome. In: Berdanier C, editor. Mitochondria in Health and Disease. CRC Press; 2005. pp. 95-246. [DOI: 10.1201/9781420028843.ch3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
205 Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Brain 2014;137:1337-49. [PMID: 24727567 DOI: 10.1093/brain/awu068] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 1.6] [Reference Citation Analysis]
206 McKnight CL, Low YC, Elliott DA, Thorburn DR, Frazier AE. Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned? Int J Mol Sci 2021;22:7730. [PMID: 34299348 DOI: 10.3390/ijms22147730] [Cited by in F6Publishing: 3] [Reference Citation Analysis]
207 Clayton PT. Diagnosis of inherited disorders of liver metabolism. J Inherit Metab Dis 2003;26:135-46. [DOI: 10.1023/a:1024429032116] [Cited by in Crossref: 23] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
208 Hudson G, Chinnery PF. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 2006;15 Spec No 2:R244-52. [PMID: 16987890 DOI: 10.1093/hmg/ddl233] [Cited by in Crossref: 143] [Cited by in F6Publishing: 140] [Article Influence: 8.9] [Reference Citation Analysis]
209 Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-petrusa M, Baruffini E, Ferrero I, Zeviani M. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009;32:143-58. [DOI: 10.1007/s10545-008-1038-z] [Cited by in Crossref: 127] [Cited by in F6Publishing: 114] [Article Influence: 9.1] [Reference Citation Analysis]
210 Copeland WC. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 2008;59:131-46. [PMID: 17892433 DOI: 10.1146/annurev.med.59.053006.104646] [Cited by in Crossref: 200] [Cited by in F6Publishing: 185] [Article Influence: 14.3] [Reference Citation Analysis]
211 Lee WS, Sokol RJ. Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr 2013;163:942-8. [PMID: 23810725 DOI: 10.1016/j.jpeds.2013.05.036] [Cited by in Crossref: 35] [Cited by in F6Publishing: 20] [Article Influence: 3.9] [Reference Citation Analysis]
212 Mancuso M, Filosto M, Hirano M, Dimauro S. Spinal muscular atrophy and mitochondrial DNA depletion: Response to Berber et al. (2003) Acta Neuropathol 105:245–251. Acta Neuropathol 2003;105:621-2. [DOI: 10.1007/s00401-003-0699-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 0.4] [Reference Citation Analysis]
213 Kollberg G, Moslemi A, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A. POLG1 Mutations Associated With Progressive Encephalopathy in Childhood. J Neuropathol Exp Neurol 2006;65:758-68. [DOI: 10.1097/01.jnen.0000229987.17548.6e] [Cited by in Crossref: 68] [Cited by in F6Publishing: 59] [Article Influence: 4.3] [Reference Citation Analysis]
214 Wang L. Mitochondrial purine and pyrimidine metabolism and beyond. Nucleosides Nucleotides Nucleic Acids 2016;35:578-94. [PMID: 27906631 DOI: 10.1080/15257770.2015.1125001] [Cited by in Crossref: 41] [Cited by in F6Publishing: 38] [Article Influence: 8.2] [Reference Citation Analysis]
215 Aye Y, Li M, Long MJ, Weiss RS. Ribonucleotide reductase and cancer: biological mechanisms and targeted therapies. Oncogene 2015;34:2011-21. [PMID: 24909171 DOI: 10.1038/onc.2014.155] [Cited by in Crossref: 191] [Cited by in F6Publishing: 175] [Article Influence: 23.9] [Reference Citation Analysis]
216 Jankowska I, Czubkowski P, Rokicki D, Lipiński P, Piekutowska-Abramczuk D, Ciara E, Płoski R, Kaliciński P, Szymczak M, Pawłowska J, Socha P. Acute liver failure due to DGUOK deficiency-is liver transplantation justified? Clin Res Hepatol Gastroenterol 2021;45:101408. [PMID: 32278775 DOI: 10.1016/j.clinre.2020.02.018] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
217 Alberio S, Mineri R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion 2007;7:6-12. [PMID: 17280874 DOI: 10.1016/j.mito.2006.11.010] [Cited by in Crossref: 68] [Cited by in F6Publishing: 63] [Article Influence: 4.3] [Reference Citation Analysis]
218 Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 2008;17:2496-506. [PMID: 18487244 DOI: 10.1093/hmg/ddn150] [Cited by in Crossref: 43] [Cited by in F6Publishing: 40] [Article Influence: 3.1] [Reference Citation Analysis]
219 Berglund AK, Navarrete C, Engqvist MK, Hoberg E, Szilagyi Z, Taylor RW, Gustafsson CM, Falkenberg M, Clausen AR. Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. PLoS Genet 2017;13:e1006628. [PMID: 28207748 DOI: 10.1371/journal.pgen.1006628] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 7.4] [Reference Citation Analysis]
220 Thelander L. Ribonucleotide reductase and mitochondrial DNA synthesis. Nat Genet 2007;39:703-4. [PMID: 17534360 DOI: 10.1038/ng0607-703] [Cited by in Crossref: 50] [Cited by in F6Publishing: 50] [Article Influence: 3.3] [Reference Citation Analysis]
221 DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004;1658:80-8. [PMID: 15282178 DOI: 10.1016/j.bbabio.2004.03.014] [Cited by in Crossref: 161] [Cited by in F6Publishing: 136] [Article Influence: 8.9] [Reference Citation Analysis]
222 Curbo S, Lagier-tourenne C, Carrozzo R, Palenzuela L, Lucioli S, Hirano M, Santorelli F, Arenas J, Karlsson A, Johansson M. Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes. Genomics 2006;87:410-6. [DOI: 10.1016/j.ygeno.2005.09.017] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 1.2] [Reference Citation Analysis]
223 Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH. Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. Hum Mutat 2009;30:248-54. [PMID: 18828154 DOI: 10.1002/humu.20852] [Cited by in Crossref: 41] [Cited by in F6Publishing: 39] [Article Influence: 3.2] [Reference Citation Analysis]
224 Sun R, Eriksson S, Wang L. Down-regulation of mitochondrial thymidine kinase 2 and deoxyguanosine kinase by didanosine: Implication for mitochondrial toxicities of anti-HIV nucleoside analogs. Biochemical and Biophysical Research Communications 2014;450:1021-6. [DOI: 10.1016/j.bbrc.2014.06.098] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
225 Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LC, Scaglia F. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Molecular Genetics and Metabolism 2011;103:262-7. [DOI: 10.1016/j.ymgme.2011.03.006] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
226 Franzolin E, Salata C, Bianchi V, Rampazzo C. The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase. J Biol Chem 2015;290:25986-96. [PMID: 26342080 DOI: 10.1074/jbc.M115.675082] [Cited by in Crossref: 14] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
227 Lara MC, Valentino ML, Torres-torronteras J, Hirano M, Martí R. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches. Bioscience Reports 2007;27:151-63. [DOI: 10.1007/s10540-007-9043-2] [Cited by in Crossref: 47] [Cited by in F6Publishing: 40] [Article Influence: 3.1] [Reference Citation Analysis]
228 Bulst S, Abicht A, Holinski-Feder E, Müller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmüller H, Horvath R. In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. Hum Mol Genet 2009;18:1590-9. [PMID: 19221117 DOI: 10.1093/hmg/ddp074] [Cited by in Crossref: 37] [Cited by in F6Publishing: 31] [Article Influence: 2.8] [Reference Citation Analysis]
229 Menezes MJ, Riley LG, Christodoulou J. Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine. Biochimica et Biophysica Acta (BBA) - General Subjects 2014;1840:1368-79. [DOI: 10.1016/j.bbagen.2013.12.025] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 3.3] [Reference Citation Analysis]
230 Irwin CR, Hitt MM, Evans DH. Targeting Nucleotide Biosynthesis: A Strategy for Improving the Oncolytic Potential of DNA Viruses. Front Oncol 2017;7:229. [PMID: 29018771 DOI: 10.3389/fonc.2017.00229] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 2.0] [Reference Citation Analysis]
231 Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. Mol Genet Metab 2016;118:28-34. [PMID: 26992325 DOI: 10.1016/j.ymgme.2016.03.004] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
232 Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab 2015;21:417-27. [PMID: 25738457 DOI: 10.1016/j.cmet.2015.02.008] [Cited by in Crossref: 74] [Cited by in F6Publishing: 70] [Article Influence: 10.6] [Reference Citation Analysis]
233 Martínez-Azorín F, Calleja M, Hernández-Sierra R, Farr CL, Kaguni LS, Garesse R. Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion. J Neurochem 2008;105:165-76. [PMID: 17999718 DOI: 10.1111/j.1471-4159.2007.05122.x] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 1.3] [Reference Citation Analysis]
234 Rampazzo C, Fabris S, Franzolin E, Crovatto K, Frangini M, Bianchi V. Mitochondrial thymidine kinase and the enzymatic network regulating thymidine triphosphate pools in cultured human cells. J Biol Chem 2007;282:34758-69. [PMID: 17913703 DOI: 10.1074/jbc.M705923200] [Cited by in Crossref: 42] [Cited by in F6Publishing: 20] [Article Influence: 2.8] [Reference Citation Analysis]
235 Montano V, Simoncini C, Calì CL, Legati A, Siciliano G, Mancuso M. CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. Case Rep Neurol Med 2019;2019:5918632. [PMID: 30956829 DOI: 10.1155/2019/5918632] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
236 González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R. Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). PLoS Genet 2011;7:e1002035. [PMID: 21483760 DOI: 10.1371/journal.pgen.1002035] [Cited by in Crossref: 61] [Cited by in F6Publishing: 57] [Article Influence: 5.5] [Reference Citation Analysis]
237 Sang L, He YJ, Kang J, Ye H, Bai W, Luo XD, Sun J. Mitochondrial Deoxyguanosine Kinase Regulates NAD+ Biogenesis Independent of Mitochondria Complex I Activity. Front Oncol 2020;10:570656. [PMID: 33392072 DOI: 10.3389/fonc.2020.570656] [Reference Citation Analysis]
238 Villarroya J, Lara MC, Dorado B, Garrido M, García-Arumí E, Meseguer A, Hirano M, Vilà MR. Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity. Biochem Biophys Res Commun 2011;407:333-8. [PMID: 21382338 DOI: 10.1016/j.bbrc.2011.03.018] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
239 Di Donato S. Multisystem manifestations of mitochondrial disorders. J Neurol 2009;256:693-710. [DOI: 10.1007/s00415-009-5028-3] [Cited by in Crossref: 72] [Cited by in F6Publishing: 57] [Article Influence: 5.5] [Reference Citation Analysis]
240 di Punzio G, Gilberti M, Baruffini E, Lodi T, Donnini C, Dallabona C. A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool. Int J Mol Sci 2021;22:12223. [PMID: 34830106 DOI: 10.3390/ijms222212223] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
241 Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong L, Scaglia F. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency: Predictors of Survival in DGUOK Deficiency. Liver Transpl 2008;14:1480-5. [DOI: 10.1002/lt.21556] [Cited by in Crossref: 52] [Cited by in F6Publishing: 46] [Article Influence: 3.7] [Reference Citation Analysis]
242 Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2015;17:689-701. [PMID: 25503498 DOI: 10.1038/gim.2014.177] [Cited by in Crossref: 226] [Cited by in F6Publishing: 169] [Article Influence: 28.3] [Reference Citation Analysis]
243 AlSaman A, Tomoum H, Invernizzi F, Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene. Saudi J Gastroenterol 2012;18:285-9. [PMID: 22824774 DOI: 10.4103/1319-3767.98439] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 1.4] [Reference Citation Analysis]
244 Spinazzola A, Zeviani M. Disorders of Nuclear-Mitochondrial Intergenomic Communication. Bioscience Reports 2007;27:39-51. [DOI: 10.1007/s10540-007-9036-1] [Cited by in Crossref: 47] [Cited by in F6Publishing: 38] [Article Influence: 3.1] [Reference Citation Analysis]
245 Desler C, Munch-Petersen B, Rasmussen LJ. The role of mitochondrial dNTP levels in cells with reduced TK2 activity. Nucleosides Nucleotides Nucleic Acids 2006;25:1171-5. [PMID: 17065084 DOI: 10.1080/15257770600894501] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.5] [Reference Citation Analysis]
246 van den Berghe G, Vincent M, Marie S. Disorders of Purine and Pyrimidine Metabolism. In: Fernandes J, Saudubray J, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2006. pp. 433-49. [DOI: 10.1007/978-3-540-28785-8_35] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
247 Rylova SN, Mirzaee S, Albertioni F, Eriksson S. Expression of deoxynucleoside kinases and 5'-nucleotidases in mouse tissues: implications for mitochondrial toxicity. Biochem Pharmacol 2007;74:169-75. [PMID: 17493587 DOI: 10.1016/j.bcp.2007.03.029] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 1.7] [Reference Citation Analysis]
248 Pons R, Andreu AL, Checcarelli N, Vilà MR, Engelstad K, Sue CM, Shungu D, Haggerty R, de Vivo DC, DiMauro S. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr 2004;144:81-5. [PMID: 14722523 DOI: 10.1016/j.jpeds.2003.10.023] [Cited by in Crossref: 88] [Cited by in F6Publishing: 85] [Article Influence: 4.9] [Reference Citation Analysis]
249 Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007;150:531-4, 534.e1-6. [PMID: 17452231 DOI: 10.1016/j.jpeds.2007.01.044] [Cited by in Crossref: 114] [Cited by in F6Publishing: 106] [Article Influence: 7.6] [Reference Citation Analysis]
250 Scarlato&na; G, Comi GP. Metabolic and drug-induced muscle disorders: . Current Opinion in Neurology 2002;15:533-8. [DOI: 10.1097/00019052-200210000-00003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
251 Chinopoulos C. Quantification of mitochondrial DNA from peripheral tissues: Limitations in predicting the severity of neurometabolic disorders and proposal of a novel diagnostic test. Mol Aspects Med 2020;71:100834. [PMID: 31740079 DOI: 10.1016/j.mam.2019.11.004] [Reference Citation Analysis]
252 Desler C, Lillenes MS, Tønjum T, Rasmussen LJ. The Role of Mitochondrial Dysfunction in the Progression of Alzheimer's Disease. Curr Med Chem 2018;25:5578-87. [PMID: 28618998 DOI: 10.2174/0929867324666170616110111] [Cited by in Crossref: 19] [Cited by in F6Publishing: 19] [Article Influence: 6.3] [Reference Citation Analysis]
253 Yu-Wai-Man P, Chinnery PF. Dysfunctional mitochondrial maintenance: what breaks the circle of life? Brain 2012;135:9-11. [PMID: 22271662 DOI: 10.1093/brain/awr352] [Cited by in Crossref: 21] [Cited by in F6Publishing: 13] [Article Influence: 2.1] [Reference Citation Analysis]
254 Lebrecht D, Vargas-infante YA, Setzer B, Kirschner J, Walker UA. Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice. Hepatology 2007;45:72-9. [DOI: 10.1002/hep.21490] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 1.7] [Reference Citation Analysis]
255 Tyynismaa H, Suomalainen A. Mouse models of mtDNA replication diseases. Methods 2010;51:405-10. [PMID: 20385238 DOI: 10.1016/j.ymeth.2010.03.009] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 1.0] [Reference Citation Analysis]
256 Leanza L, Ferraro P, Reichard P, Bianchi V. Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance. J Biol Chem 2008;283:16437-45. [PMID: 18417473 DOI: 10.1074/jbc.M801572200] [Cited by in Crossref: 26] [Cited by in F6Publishing: 14] [Article Influence: 1.9] [Reference Citation Analysis]
257 Longo N. Mitochondrial encephalopathy. Neurologic Clinics 2003;21:817-31. [DOI: 10.1016/s0733-8619(03)00015-x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 5] [Article Influence: 1.1] [Reference Citation Analysis]
258 Wallace DC. Mitochondrial DNA mutations in disease and aging. Environ Mol Mutagen. 2010;51:440-450. [PMID: 20544884 DOI: 10.1002/em.20586] [Cited by in Crossref: 82] [Cited by in F6Publishing: 216] [Article Influence: 6.8] [Reference Citation Analysis]
259 Ylikallio E, Suomalainen A. Mechanisms of mitochondrial diseases. Ann Med 2012;44:41-59. [PMID: 21806499 DOI: 10.3109/07853890.2011.598547] [Cited by in Crossref: 105] [Cited by in F6Publishing: 100] [Article Influence: 9.5] [Reference Citation Analysis]
260 Rylova SN, Albertioni F, Flygh G, Eriksson S. Activity profiles of deoxynucleoside kinases and 5'-nucleotidases in cultured adipocytes and myoblastic cells: insights into mitochondrial toxicity of nucleoside analogs. Biochem Pharmacol 2005;69:951-60. [PMID: 15748706 DOI: 10.1016/j.bcp.2004.12.010] [Cited by in Crossref: 37] [Cited by in F6Publishing: 35] [Article Influence: 2.2] [Reference Citation Analysis]
261 DiMauro S. A Brief History of Mitochondrial Pathologies. Int J Mol Sci 2019;20:E5643. [PMID: 31718067 DOI: 10.3390/ijms20225643] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
262 Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res 2004;32:3053-64. [PMID: 15181170 DOI: 10.1093/nar/gkh634] [Cited by in Crossref: 92] [Cited by in F6Publishing: 88] [Article Influence: 5.1] [Reference Citation Analysis]
263 Goldstein AC, Bhatia P, Vento JM. Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics 2013;10:212-26. [PMID: 23516041 DOI: 10.1007/s13311-013-0185-6] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
264 Wallace DC, Fan W. The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev 2009;23:1714-36. [PMID: 19651984 DOI: 10.1101/gad.1784909] [Cited by in Crossref: 154] [Cited by in F6Publishing: 141] [Article Influence: 11.8] [Reference Citation Analysis]
265 Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J 2007;402:377-85. [PMID: 17073823 DOI: 10.1042/BJ20060705] [Cited by in Crossref: 30] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
266 Chou YF, Huang RF. Mitochondrial DNA deletions of blood lymphocytes as genetic markers of low folate-related mitochondrial genotoxicity in peripheral tissues. Eur J Nutr 2009;48:429-36. [PMID: 19437061 DOI: 10.1007/s00394-009-0031-0] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 1.9] [Reference Citation Analysis]
267 Wong LJ. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve. 2007;36:279-293. [PMID: 17503499 DOI: 10.1002/mus.20807] [Cited by in Crossref: 83] [Cited by in F6Publishing: 68] [Article Influence: 5.5] [Reference Citation Analysis]
268 El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics 2013;10:186-98. [PMID: 23385875 DOI: 10.1007/s13311-013-0177-6] [Cited by in Crossref: 163] [Cited by in F6Publishing: 142] [Article Influence: 18.1] [Reference Citation Analysis]
269 Rahman S. Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis. 2013;36:659-673. [PMID: 23674168 DOI: 10.1007/s10545-013-9614-2] [Cited by in Crossref: 36] [Cited by in F6Publishing: 24] [Article Influence: 4.0] [Reference Citation Analysis]
270 Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. Mol Genet Metab 2012;107:95-103. [PMID: 22608879 DOI: 10.1016/j.ymgme.2012.04.022] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
271 Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007;62:579-87. [DOI: 10.1002/ana.21207] [Cited by in Crossref: 138] [Cited by in F6Publishing: 119] [Article Influence: 9.2] [Reference Citation Analysis]
272 Lee WS, Sokol RJ. Liver disease in mitochondrial disorders. Semin Liver Dis. 2007;27:259-273. [PMID: 17682973 DOI: 10.1055/s-2007-985071] [Cited by in Crossref: 62] [Cited by in F6Publishing: 46] [Article Influence: 4.1] [Reference Citation Analysis]
273 Navarro-sastre A, Martín-hernández E, Campos Y, Quintana E, Medina E, de las Heras RS, Lluch M, Muñoz A, Hoyo PD, Martín R, Gort L, Briones P, Ribes A. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form. Molecular Genetics and Metabolism 2008;94:234-9. [DOI: 10.1016/j.ymgme.2008.01.012] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 2.5] [Reference Citation Analysis]
274 Spinazzola A, Massa V, Hirano M, Zeviani M. Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians. Neuromuscular Disorders 2008;18:315-8. [DOI: 10.1016/j.nmd.2007.12.007] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 0.6] [Reference Citation Analysis]
275 Taanman J, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann Neurol 2002;52:237-9. [DOI: 10.1002/ana.10247] [Cited by in Crossref: 29] [Cited by in F6Publishing: 27] [Article Influence: 1.5] [Reference Citation Analysis]
276 Hu B, Yang M, Liao Z, Wei H, Zhao C, Li D, Hu S, Jiang X, Shi M, Luo Q, Zhang D, Nie Q, Zhang X, Li H. Mutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken. Front Cell Dev Biol 2020;8:581. [PMID: 32766243 DOI: 10.3389/fcell.2020.00581] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
277 Venditti CP, Harris MC, Huff D, Peterside I, Munson D, Weber HS, Rome J, Kaye EM, Shanske S, Sacconi S, Tay S, DiMauro S, Berry GT. Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency. J Inherit Metab Dis 2004;27:735-9. [PMID: 15505378 DOI: 10.1023/B:BOLI.0000045711.89888.5e] [Cited by in Crossref: 17] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
278 Zhou X, Solaroli N, Bjerke M, Stewart JB, Rozell B, Johansson M, Karlsson A. Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice. Hum Mol Genet 2008;17:2329-35. [PMID: 18434326 DOI: 10.1093/hmg/ddn133] [Cited by in Crossref: 67] [Cited by in F6Publishing: 66] [Article Influence: 4.8] [Reference Citation Analysis]
279 Wong LJ. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev 2010;16:154-62. [PMID: 20818730 DOI: 10.1002/ddrr.104] [Cited by in Crossref: 50] [Cited by in F6Publishing: 41] [Article Influence: 4.5] [Reference Citation Analysis]
280 Wong LC. Biochemical and Molecular Methods for the Study of Mitochondrial Disorders. In: Wong LC, editor. Mitochondrial Disorders Caused by Nuclear Genes. New York: Springer; 2013. pp. 27-45. [DOI: 10.1007/978-1-4614-3722-2_2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
281 Taylor SD, Zhang H, Eaton JS, Rodeheffer MS, Lebedeva MA, O'rourke TW, Siede W, Shadel GS. The conserved Mec1/Rad53 nuclear checkpoint pathway regulates mitochondrial DNA copy number in Saccharomyces cerevisiae. Mol Biol Cell 2005;16:3010-8. [PMID: 15829566 DOI: 10.1091/mbc.e05-01-0053] [Cited by in Crossref: 69] [Cited by in F6Publishing: 54] [Article Influence: 4.1] [Reference Citation Analysis]
282 Pereira CV, Moraes CT. Current strategies towards therapeutic manipulation of mtDNA heteroplasmy. Front Biosci (Landmark Ed) 2017;22:991-1010. [PMID: 27814659 DOI: 10.2741/4529] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
283 Montero R, Sánchez-alcázar JA, Briones P, Navarro-sastre A, Gallardo E, Bornstein B, Herrero-martín D, Rivera H, Martin MA, Marti R, García-cazorla A, Montoya J, Navas P, Artuch R. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report. Clinical Biochemistry 2009;42:742-5. [DOI: 10.1016/j.clinbiochem.2008.10.027] [Cited by in Crossref: 17] [Cited by in F6Publishing: 19] [Article Influence: 1.3] [Reference Citation Analysis]
284 Carrozzo R, Wittig I, Santorelli FM, Bertini E, Hofmann S, Brandt U, Schägger H. Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders. Ann Neurol 2006;59:265-75. [DOI: 10.1002/ana.20729] [Cited by in Crossref: 63] [Cited by in F6Publishing: 60] [Article Influence: 3.7] [Reference Citation Analysis]
285 Lin S, Huang C, Sun J, Bollt O, Wang X, Martine E, Kang J, Taylor MD, Fang B, Singh PK, Koomen J, Hao J, Yang S. The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma. EMBO Mol Med 2019;11:e10849. [PMID: 31633874 DOI: 10.15252/emmm.201910849] [Cited by in Crossref: 8] [Cited by in F6Publishing: 11] [Article Influence: 2.7] [Reference Citation Analysis]
286 Fellman V, Kotarsky H. Mitochondrial hepatopathies in the newborn period. Semin Fetal Neonatal Med 2011;16:222-8. [PMID: 21680270 DOI: 10.1016/j.siny.2011.05.002] [Cited by in Crossref: 47] [Cited by in F6Publishing: 36] [Article Influence: 4.3] [Reference Citation Analysis]
287 Knecht W, Sandrini MP, Johansson K, Eklund H, Munch-Petersen B, Piskur J. A few amino acid substitutions can convert deoxyribonucleoside kinase specificity from pyrimidines to purines. EMBO J 2002;21:1873-80. [PMID: 11927571 DOI: 10.1093/emboj/21.7.1873] [Cited by in Crossref: 48] [Cited by in F6Publishing: 49] [Article Influence: 2.4] [Reference Citation Analysis]
288 Sandrini MP, Piškur J. Deoxyribonucleoside kinases: two enzyme families catalyze the same reaction. Trends in Biochemical Sciences 2005;30:225-8. [DOI: 10.1016/j.tibs.2005.03.003] [Cited by in Crossref: 42] [Cited by in F6Publishing: 38] [Article Influence: 2.5] [Reference Citation Analysis]
289 Piškur J, Sandrini MP, Knecht W, Munch-petersen B. Animal deoxyribonucleoside kinases: ‘forward’ and ‘retrograde’ evolution of their substrate specificity 1. FEBS Letters 2004;560:3-6. [DOI: 10.1016/s0014-5793(04)00081-x] [Cited by in Crossref: 16] [Cited by in F6Publishing: 3] [Article Influence: 0.9] [Reference Citation Analysis]
290 Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J. Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet 2007;16:1400-11. [PMID: 17483096 DOI: 10.1093/hmg/ddm090] [Cited by in Crossref: 36] [Cited by in F6Publishing: 30] [Article Influence: 2.4] [Reference Citation Analysis]
291 Krishnan S, Zhou X, Paredes JA, Kuiper RV, Curbo S, Karlsson A. Transgene expression of Drosophila melanogaster nucleoside kinase reverses mitochondrial thymidine kinase 2 deficiency. J Biol Chem 2013;288:5072-9. [PMID: 23288848 DOI: 10.1074/jbc.M112.437152] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
292 Wang L, Eriksson S. Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome. FEBS Lett 2003;554:319-22. [PMID: 14623087 DOI: 10.1016/s0014-5793(03)01181-5] [Cited by in Crossref: 21] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
293 Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK; Mitochondrial Medicine Society's Committee on Diagnosis. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008;94:16-37. [PMID: 18243024 DOI: 10.1016/j.ymgme.2007.11.018] [Cited by in Crossref: 234] [Cited by in F6Publishing: 210] [Article Influence: 16.7] [Reference Citation Analysis]
294 Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012;135:3392-403. [PMID: 23107649 DOI: 10.1093/brain/aws231] [Cited by in Crossref: 49] [Cited by in F6Publishing: 40] [Article Influence: 4.9] [Reference Citation Analysis]
295 Bourdon A, Rötig A. [p53R2 : DNA repair or mitochondrial DNA synthesis?]. Med Sci (Paris) 2007;23:803-5. [PMID: 17937886 DOI: 10.1051/medsci/20072310803] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
296 Taanman JW, Muddle JR, Muntau AC. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum Mol Genet 2003;12:1839-45. [PMID: 12874104 DOI: 10.1093/hmg/ddg192] [Cited by in Crossref: 65] [Cited by in F6Publishing: 58] [Article Influence: 3.6] [Reference Citation Analysis]
297 Dimauro S. Treatment of Mitochondrial Diseases. Mitochondrial Disorders. Paris: Springer; 2002. pp. 307-25. [DOI: 10.1007/978-2-8178-0929-8_26] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
298 Marti R, Spinazzola A, Nishino I, Andreu AL, Naini A, Tadesse S, Oliver JA, Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. Mitochondrion 2002;2:143-7. [DOI: 10.1016/s1567-7249(02)00036-3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
299 Dimauro S, Tay S, Mancuso M. Mitochondrial encephalomyopathies: diagnostic approach. Ann N Y Acad Sci 2004;1011:217-31. [PMID: 15126299 DOI: 10.1196/annals.1293.022] [Cited by in Crossref: 31] [Cited by in F6Publishing: 25] [Article Influence: 1.7] [Reference Citation Analysis]
300 Cabrera-pérez R, Torres-torronteras J, Vila-julià F, Ortega FJ, Cámara Y, Barquinero J, Martí R. Prospective therapeutic approaches in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Expert Opinion on Orphan Drugs 2015;3:1167-82. [DOI: 10.1517/21678707.2015.1090307] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
301 Chinnery PF. Mutations in SUCLA2: a tandem ride back to the Krebs cycle. Brain 2007;130:606-9. [DOI: 10.1093/brain/awm023] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
302 Wallace DC. A mitochondrial bioenergetic etiology of disease. J Clin Invest. 2013;123:1405-1412. [PMID: 23543062 DOI: 10.1172/jci61398] [Cited by in Crossref: 170] [Cited by in F6Publishing: 102] [Article Influence: 18.9] [Reference Citation Analysis]
303 D'amico A, Bertini E. Metabolic neuropathies and myopathies. Pediatric Neurology Part III. Elsevier; 2013. pp. 1437-55. [DOI: 10.1016/b978-0-444-59565-2.00013-7] [Cited by in Crossref: 18] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
304 Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatol 2006;45:108-16. [PMID: 16545482 DOI: 10.1016/j.jhep.2005.12.026] [Cited by in Crossref: 93] [Cited by in F6Publishing: 83] [Article Influence: 5.8] [Reference Citation Analysis]
305 Selim L, Mehaney D, Hassan F, Sabry R, Zeyada R, Hassan S, Eldin IG, Bertini E. Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report. Egyptian Journal of Medical Human Genetics 2012;13:351-7. [DOI: 10.1016/j.ejmhg.2012.05.003] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
306 Pontarin G, Ferraro P, Håkansson P, Thelander L, Reichard P, Bianchi V. p53R2-dependent ribonucleotide reduction provides deoxyribonucleotides in quiescent human fibroblasts in the absence of induced DNA damage. J Biol Chem 2007;282:16820-8. [PMID: 17416930 DOI: 10.1074/jbc.M701310200] [Cited by in Crossref: 73] [Cited by in F6Publishing: 46] [Article Influence: 4.9] [Reference Citation Analysis]
307 Balzarini J, Hernández AI, Roche P, Esnouf R, Karlsson A, Camarasa MJ, Pérez-Pérez MJ. Non-nucleoside inhibitors of mitochondrial thymidine kinase (TK-2) differentially inhibit the closely related herpes simplex virus type 1 TK and Drosophila melanogaster multifunctional deoxynucleoside kinase. Mol Pharmacol 2003;63:263-70. [PMID: 12527796 DOI: 10.1124/mol.63.2.263] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 0.8] [Reference Citation Analysis]
308 Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet 2017;91:634-9. [PMID: 27743463 DOI: 10.1111/cge.12894] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
309 Campolina-sampaio GP, Lasmar LMDLBF, Ribeiro BSV, Gurgel-giannetti J. The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil. Arq Neuro-Psiquiatr 2016;74:909-13. [DOI: 10.1590/0004-282x20160137] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
310 Sun R, Eriksson S, Wang L. Zidovudine induces downregulation of mitochondrial deoxynucleoside kinases: implications for mitochondrial toxicity of antiviral nucleoside analogs. Antimicrob Agents Chemother 2014;58:6758-66. [PMID: 25182642 DOI: 10.1128/AAC.03613-14] [Cited by in Crossref: 16] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
311 Frangini M, Franzolin E, Chemello F, Laveder P, Romualdi C, Bianchi V, Rampazzo C. Synthesis of mitochondrial DNA precursors during myogenesis, an analysis in purified C2C12 myotubes. J Biol Chem 2013;288:5624-35. [PMID: 23297407 DOI: 10.1074/jbc.M112.441147] [Cited by in Crossref: 16] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
312 Liu JT, Corbett JL, Heslop JA, Duncan SA. Enhanced genome editing in human iPSCs with CRISPR-CAS9 by co-targeting ATP1a1. PeerJ 2020;8:e9060. [PMID: 32391204 DOI: 10.7717/peerj.9060] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
313 Zeviani M, Simonati A, Bindoff LA. Ataxia in mitochondrial disorders. Ataxic Disorders. Elsevier; 2012. pp. 359-72. [DOI: 10.1016/b978-0-444-51892-7.00022-x] [Cited by in Crossref: 25] [Cited by in F6Publishing: 10] [Article Influence: 2.5] [Reference Citation Analysis]
314 Korman SH, Kanazawa N, Abu-libdeh B, Gutman A, Tsujino S. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. Journal of the Neurological Sciences 2004;218:53-8. [DOI: 10.1016/j.jns.2003.10.017] [Cited by in Crossref: 29] [Cited by in F6Publishing: 25] [Article Influence: 1.6] [Reference Citation Analysis]
315 Rodenburg RJ. Biochemical diagnosis of mitochondrial disorders. J Inherit Metab Dis 2011;34:283-92. [PMID: 20440652 DOI: 10.1007/s10545-010-9081-y] [Cited by in Crossref: 118] [Cited by in F6Publishing: 115] [Article Influence: 9.8] [Reference Citation Analysis]
316 Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion 2010;10:188-91. [PMID: 19900589 DOI: 10.1016/j.mito.2009.11.002] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 0.8] [Reference Citation Analysis]
317 Yiu EM, Ryan MM. Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. Journal of the Peripheral Nervous System 2012;17:285-300. [DOI: 10.1111/j.1529-8027.2012.00412.x] [Cited by in Crossref: 21] [Cited by in F6Publishing: 10] [Article Influence: 2.1] [Reference Citation Analysis]
318 Yano S, Li L, Le TP, Moseley K, Guedalia A, Lee J, Gonzalez I, Boles RG. Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. J Inherit Metab Dis 2003;26:481-8. [PMID: 14518828 DOI: 10.1023/a:1025125427868] [Cited by in Crossref: 21] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
319 Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Molecular Genetics and Metabolism 2005;86:462-5. [DOI: 10.1016/j.ymgme.2005.09.006] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 1.5] [Reference Citation Analysis]
320 Carinci F, Piattelli A, Guida L, Perrotti V, Laino G, Oliva A, Annunziata M, Palmieri A, Pezzetti F. Effects of Emdogain on osteoblast gene expression. Oral Dis 2006;12:329-42. [PMID: 16700745 DOI: 10.1111/j.1601-0825.2005.01204.x] [Cited by in Crossref: 33] [Cited by in F6Publishing: 28] [Article Influence: 2.1] [Reference Citation Analysis]
321 Vu TH, Hirano M, Dimauro S. Mitochondrial diseases. Neurologic Clinics 2002;20:809-39. [DOI: 10.1016/s0733-8619(01)00017-2] [Cited by in Crossref: 20] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
322 Mcfarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. The Lancet Neurology 2002;1:343-51. [DOI: 10.1016/s1474-4422(02)00159-x] [Cited by in Crossref: 81] [Cited by in F6Publishing: 16] [Article Influence: 4.1] [Reference Citation Analysis]
323 Lev D, Gilad E, Leshinsky-silver E, Houri S, Levine A, Saada A, Lerman-sagie T. Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome- c oxidase deficiency. J Inherit Metab Dis 2002;25:371-7. [DOI: 10.1023/a:1020195616081] [Cited by in Crossref: 4] [Article Influence: 0.2] [Reference Citation Analysis]
324 McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med 2009;265:210-28. [PMID: 19192037 DOI: 10.1111/j.1365-2796.2008.02066.x] [Cited by in Crossref: 52] [Cited by in F6Publishing: 45] [Article Influence: 4.0] [Reference Citation Analysis]
325 Addo MG, Cossard R, Pichard D, Obiri-Danso K, Rötig A, Delahodde A. Caenorhabditis elegans, a pluricellular model organism to screen new genes involved in mitochondrial genome maintenance. Biochim Biophys Acta 2010;1802:765-73. [PMID: 20580819 DOI: 10.1016/j.bbadis.2010.05.007] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 1.8] [Reference Citation Analysis]
326 Jackson AP, Laskey RA, Coleman N. Replication proteins and human disease. Cold Spring Harb Perspect Biol 2014;6:a013060. [PMID: 23881941 DOI: 10.1101/cshperspect.a013060] [Cited by in Crossref: 18] [Cited by in F6Publishing: 15] [Article Influence: 2.3] [Reference Citation Analysis]
327 Forslund JME, Pfeiffer A, Stojkovič G, Wanrooij PH, Wanrooij S. The presence of rNTPs decreases the speed of mitochondrial DNA replication. PLoS Genet 2018;14:e1007315. [PMID: 29601571 DOI: 10.1371/journal.pgen.1007315] [Cited by in Crossref: 19] [Cited by in F6Publishing: 16] [Article Influence: 4.8] [Reference Citation Analysis]
328 Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M. Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Hum Mol Genet 2014;23:6147-62. [PMID: 24986917 DOI: 10.1093/hmg/ddu336] [Cited by in Crossref: 42] [Cited by in F6Publishing: 37] [Article Influence: 5.3] [Reference Citation Analysis]
329 Fang W, Song P, Xie X, Wang J, Lu Y, Li G, Abuduxikuer K. A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. Oncotarget 2017;8:84309-19. [PMID: 29137425 DOI: 10.18632/oncotarget.20905] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
330 Schapira AH. Mitochondrial disease. Lancet 2006;368:70-82. [PMID: 16815381 DOI: 10.1016/S0140-6736(06)68970-8] [Cited by in Crossref: 413] [Cited by in F6Publishing: 165] [Article Influence: 25.8] [Reference Citation Analysis]
331 Zhou X, Kannisto K, Curbo S, von Döbeln U, Hultenby K, Isetun S, Gåfvels M, Karlsson A. Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation. PLoS One 2013;8:e58843. [PMID: 23505564 DOI: 10.1371/journal.pone.0058843] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.6] [Reference Citation Analysis]
332 Nijtmans LG, Ugalde C, van den Heuvel LP, Smeitink JA. Function and dysfunction of the oxidative phosphorylation system. Mitochondrial Function and Biogenesis. Berlin: Springer Berlin Heidelberg; 2004. pp. 149-76. [DOI: 10.1007/b95715] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 0.6] [Reference Citation Analysis]
333 Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Clin Genet 2020;97:276-86. [PMID: 31600844 DOI: 10.1111/cge.13652] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
334 Cámara Y, González-vioque E, Scarpelli M, Torres-torronteras J, Martí R. Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discovery Today 2013;18:950-7. [DOI: 10.1016/j.drudis.2013.06.009] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.6] [Reference Citation Analysis]
335 Rötig A, Munnich A. Genetic Features of Mitochondrial Respiratory Chain Disorders. JASN 2003;14:2995-3007. [DOI: 10.1097/01.asn.0000095481.24091.c9] [Cited by in Crossref: 50] [Cited by in F6Publishing: 19] [Article Influence: 2.6] [Reference Citation Analysis]
336 Franzolin E, Miazzi C, Frangini M, Palumbo E, Rampazzo C, Bianchi V. The pyrimidine nucleotide carrier PNC1 and mitochondrial trafficking of thymidine phosphates in cultured human cells. Exp Cell Res 2012;318:2226-36. [PMID: 22677043 DOI: 10.1016/j.yexcr.2012.05.028] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.3] [Reference Citation Analysis]
337 Rinaldi T, Dallabona C, Ferrero I, Frontali L, Bolotin-Fukuhara M. Mitochondrial diseases and the role of the yeast models. FEMS Yeast Res 2010;10:1006-22. [PMID: 20946356 DOI: 10.1111/j.1567-1364.2010.00685.x] [Cited by in Crossref: 30] [Cited by in F6Publishing: 28] [Article Influence: 2.5] [Reference Citation Analysis]
338 Graff C, Bui TH, Larsson NG. Mitochondrial diseases. Best Pract Res Clin Obstet Gynaecol 2002;16:715-28. [PMID: 12475550 DOI: 10.1053/beog.2002.0315] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
339 de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R. Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Pediatr Res 2006;59:2-6. [DOI: 10.1203/01.pdr.0000191294.34122.ab] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 1.1] [Reference Citation Analysis]
340 Moss CF, Dalla Rosa I, Hunt LE, Yasukawa T, Young R, Jones AWE, Reddy K, Desai R, Virtue S, Elgar G, Voshol P, Taylor MS, Holt IJ, Reijns MAM, Spinazzola A. Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model. Nucleic Acids Res 2017;45:12808-15. [PMID: 29106596 DOI: 10.1093/nar/gkx1009] [Cited by in Crossref: 29] [Cited by in F6Publishing: 22] [Article Influence: 7.3] [Reference Citation Analysis]
341 Martí R, Nishigaki Y, Vilá MR, Hirano M. Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. Clin Chem Lab Med 2003;41:845-51. [PMID: 12940507 DOI: 10.1515/CCLM.2003.128] [Cited by in Crossref: 24] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
342 Rampazzo C, Miazzi C, Franzolin E, Pontarin G, Ferraro P, Frangini M, Reichard P, Bianchi V. Regulation by degradation, a cellular defense against deoxyribonucleotide pool imbalances. Mutat Res 2010;703:2-10. [PMID: 20561600 DOI: 10.1016/j.mrgentox.2010.06.002] [Cited by in Crossref: 80] [Cited by in F6Publishing: 79] [Article Influence: 6.7] [Reference Citation Analysis]
343 La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. Mitochondrial diseases in adults. J Intern Med 2020;287:592-608. [DOI: 10.1111/joim.13064] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
344 Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rötig A. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. Journal of Hepatology 2012;56:294-7. [DOI: 10.1016/j.jhep.2011.06.014] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 2.4] [Reference Citation Analysis]
345 Villarroya J, de Bolós C, Meseguer A, Hirano M, Vilà MR. Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms. Exp Cell Res 2009;315:1429-38. [PMID: 19265691 DOI: 10.1016/j.yexcr.2009.02.018] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.5] [Reference Citation Analysis]
346 Brown TA, Clayton DA. Release of replication termination controls mitochondrial DNA copy number after depletion with 2',3'-dideoxycytidine. Nucleic Acids Res 2002;30:2004-10. [PMID: 11972339 DOI: 10.1093/nar/30.9.2004] [Cited by in Crossref: 64] [Cited by in F6Publishing: 63] [Article Influence: 3.2] [Reference Citation Analysis]
347 Kang D, Hamasaki N. Mitochondrial disease: maintenance of mitochondrial genome and molecular diagnostics. Adv Clin Chem 2006;42:217-54. [PMID: 17131628 DOI: 10.1016/s0065-2423(06)42006-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
348 Oldfors A, Tulinius M. Mitochondrial encephalomyopathies. Myopathies. Elsevier; 2007. pp. 125-65. [DOI: 10.1016/s0072-9752(07)86006-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 1] [Article Influence: 0.4] [Reference Citation Analysis]
349 Elpeleg O. Inherited mitochondrial DNA depletion. Pediatr Res 2003;54:153-9. [PMID: 12736387 DOI: 10.1203/01.PDR.0000072796.25097.A5] [Cited by in Crossref: 24] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
350 Bertoli A, Franco M, Balzarini J, Johansson M, Karlsson A. Altered deoxyribonucleotide pools in T-lymphoblastoid cells expressing the multisubstrate nucleoside kinase of Drosophila melanogaster. FEBS J 2005;272:3918-28. [PMID: 16045762 DOI: 10.1111/j.1742-4658.2005.04808.x] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.5] [Reference Citation Analysis]
351 Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. Mol Genet Metab 2012;107:409-15. [PMID: 22980518 DOI: 10.1016/j.ymgme.2012.08.018] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 2.6] [Reference Citation Analysis]
352 Oldfors A, Tulinius M. Mitochondrial encephalomyopathies. J Neuropathol Exp Neurol 2003;62:217-27. [PMID: 12638726 DOI: 10.1093/jnen/62.3.217] [Cited by in Crossref: 30] [Cited by in F6Publishing: 25] [Article Influence: 1.6] [Reference Citation Analysis]
353 Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 2014;6:1016-27. [PMID: 24968719 DOI: 10.15252/emmm.201404092] [Cited by in Crossref: 61] [Cited by in F6Publishing: 46] [Article Influence: 8.7] [Reference Citation Analysis]
354 Gandhi VV, Samuels DC. Enzyme kinetics of the mitochondrial deoxyribonucleoside salvage pathway are not sufficient to support rapid mtDNA replication. PLoS Comput Biol 2011;7:e1002078. [PMID: 21829339 DOI: 10.1371/journal.pcbi.1002078] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 0.9] [Reference Citation Analysis]
355 Saneto RP. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing. J Transl Genet Genom 2020;4:384-428. [PMID: 33426505 DOI: 10.20517/jtgg.2020.40] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
356 Dimmick J. Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver). Pediatr Dev Pathol 2004;7:625-8. [DOI: 10.1007/s10024-004-5052-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
357 Sarzi E, Rötig A. [Mitochondrial genome instability and associated diseases]. Med Sci (Paris) 2010;26:171-6. [PMID: 20188049 DOI: 10.1051/medsci/2010262171] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
358 Li X, Li L, Sun Y, Lv F, Zhang G, Liu W, Zhang M, Jiang H, Liu S. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report. BMC Med Genet 2019;20:146. [PMID: 31455269 DOI: 10.1186/s12881-019-0875-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
359 Paredes JA, Zhou X, Höglund S, Karlsson A. Gene expression deregulation in postnatal skeletal muscle of TK2 deficient mice reveals a lower pool of proliferating myogenic progenitor cells. PLoS One 2013;8:e53698. [PMID: 23341978 DOI: 10.1371/journal.pone.0053698] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
360 Wallace DC. The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement. Gene 2005;354:169-80. [PMID: 16024186 DOI: 10.1016/j.gene.2005.05.001] [Cited by in Crossref: 136] [Cited by in F6Publishing: 117] [Article Influence: 8.0] [Reference Citation Analysis]
361 Smet J, Seneca S, De Paepe B, Meulemans A, Verhelst H, Leroy J, De Meirleir L, Lissens W, Van Coster R. Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. Electrophoresis 2009;30:3565-72. [PMID: 19862739 DOI: 10.1002/elps.200900213] [Cited by in Crossref: 23] [Cited by in F6Publishing: 23] [Article Influence: 1.9] [Reference Citation Analysis]