BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: 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]
Number Citing Articles
1 Loeb LA, Monnat RJ. DNA polymerases and human disease. Nat Rev Genet 2008;9:594-604. [DOI: 10.1038/nrg2345] [Cited by in Crossref: 197] [Cited by in F6Publishing: 175] [Article Influence: 14.1] [Reference Citation Analysis]
2 Kukat A, Kukat C, Brocher J, Schäfer I, Krohne G, Trounce IA, Villani G, Seibel P. Generation of rho0 cells utilizing a mitochondrially targeted restriction endonuclease and comparative analyses. Nucleic Acids Res 2008;36:e44. [PMID: 18353857 DOI: 10.1093/nar/gkn124] [Cited by in Crossref: 69] [Cited by in F6Publishing: 65] [Article Influence: 4.9] [Reference Citation Analysis]
3 Milone M, Massie R. Polymerase Gamma 1 Mutations: Clinical Correlations. The Neurologist 2010;16:84-91. [DOI: 10.1097/nrl.0b013e3181c78a89] [Cited by in Crossref: 68] [Cited by in F6Publishing: 15] [Article Influence: 5.7] [Reference Citation Analysis]
4 Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC. De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion 2009;9:340-5. [PMID: 19501198 DOI: 10.1016/j.mito.2009.05.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.6] [Reference Citation Analysis]
5 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]
6 Zhang L, Chan SS, Wolff DJ. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med 2011;135:925-34. [PMID: 21732785 DOI: 10.5858/2010-0356-RAR.1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
7 Cheng X, Qin Y, Ivessa AS. Loss of mitochondrial DNA under genotoxic stress conditions in the absence of the yeast DNA helicase Pif1p occurs independently of the DNA helicase Rrm3p. Mol Genet Genomics 2009;281:635-45. [PMID: 19277716 DOI: 10.1007/s00438-009-0438-6] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.1] [Reference Citation Analysis]
8 Dong DW, Pereira F, Barrett SP, Kolesar JE, Cao K, Damas J, Yatsunyk LA, Johnson FB, Kaufman BA. Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints. BMC Genomics 2014;15:677. [PMID: 25124333 DOI: 10.1186/1471-2164-15-677] [Cited by in Crossref: 70] [Cited by in F6Publishing: 58] [Article Influence: 8.8] [Reference Citation Analysis]
9 Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biol 2020;21:248. [PMID: 32943091 DOI: 10.1186/s13059-020-02138-5] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
10 Chattopadhyay K, Aldous C. A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations. Mitochondrial DNA A DNA Mapp Seq Anal 2016;27:1685-7. [PMID: 25211089 DOI: 10.3109/19401736.2014.958728] [Cited by in Crossref: 2] [Cited by in F6Publishing: 7] [Article Influence: 0.3] [Reference Citation Analysis]
11 Chen H, Vermulst M, Wang YE, Chomyn A, Prolla TA, McCaffery JM, Chan DC. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell. 2010;141:280-289. [PMID: 20403324 DOI: 10.1016/j.cell.2010.02] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
12 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]
13 Arnold JJ, Smidansky ED, Moustafa IM, Cameron CE. Human mitochondrial RNA polymerase: structure-function, mechanism and inhibition. Biochim Biophys Acta 2012;1819:948-60. [PMID: 22551784 DOI: 10.1016/j.bbagrm.2012.04.002] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 3.1] [Reference Citation Analysis]
14 Bai RK, Chang J, Yeh KT, Lou MA, Lu JF, Tan DJ, Liu H, Wong LJ. Mitochondrial DNA content varies with pathological characteristics of breast cancer. J Oncol. 2011;2011:496189. [PMID: 22028711 DOI: 10.1155/2011/496189] [Cited by in Crossref: 27] [Cited by in F6Publishing: 31] [Article Influence: 2.5] [Reference Citation Analysis]
15 Safdar A, Khrapko K, Flynn JM, Saleem A, De Lisio M, Johnston AP, Kratysberg Y, Samjoo IA, Kitaoka Y, Ogborn DI, Little JP, Raha S, Parise G, Akhtar M, Hettinga BP, Rowe GC, Arany Z, Prolla TA, Tarnopolsky MA. Exercise-induced mitochondrial p53 repairs mtDNA mutations in mutator mice. Skelet Muscle 2016;6:7. [PMID: 26834962 DOI: 10.1186/s13395-016-0075-9] [Cited by in Crossref: 48] [Cited by in F6Publishing: 47] [Article Influence: 8.0] [Reference Citation Analysis]
16 Wong TS, Rajagopalan S, Townsley FM, Freund SM, Petrovich M, Loakes D, Fersht AR. Physical and functional interactions between human mitochondrial single-stranded DNA-binding protein and tumour suppressor p53. Nucleic Acids Res 2009;37:568-81. [PMID: 19066201 DOI: 10.1093/nar/gkn974] [Cited by in Crossref: 72] [Cited by in F6Publishing: 71] [Article Influence: 5.1] [Reference Citation Analysis]
17 Verhoeven WM, Egger JI, Kremer BP, de Pont BJ, Marcelis CL. Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation? Neuropsychiatr Dis Treat 2011;7:293-6. [PMID: 21654874 DOI: 10.2147/NDT.S20153] [Cited by in Crossref: 11] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
18 Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet 2014;22:184-91. [PMID: 23714749 DOI: 10.1038/ejhg.2013.112] [Cited by in Crossref: 34] [Cited by in F6Publishing: 34] [Article Influence: 3.8] [Reference Citation Analysis]
19 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]
20 Kuskovsky R, Buj R, Xu P, Hofbauer S, Doan MT, Jiang H, Bostwick A, Mesaros C, Aird KM, Snyder NW. Simultaneous isotope dilution quantification and metabolic tracing of deoxyribonucleotides by liquid chromatography high resolution mass spectrometry. Anal Biochem 2019;568:65-72. [PMID: 30605633 DOI: 10.1016/j.ab.2018.12.023] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
21 Shadel GS. Expression and maintenance of mitochondrial DNA: new insights into human disease pathology. Am J Pathol 2008;172:1445-56. [PMID: 18458094 DOI: 10.2353/ajpath.2008.071163] [Cited by in Crossref: 85] [Cited by in F6Publishing: 82] [Article Influence: 6.1] [Reference Citation Analysis]
22 Da Pozzo P, Cardaioli E, Rubegni A, Gallus GN, Malandrini A, Rufa A, Battisti C, Carluccio MA, Rocchi R, Giannini F, Bianchi A, Mancuso M, Siciliano G, Dotti MT, Federico A. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci 2017;38:563-70. [DOI: 10.1007/s10072-016-2734-3] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
23 Duchen MR, Szabadkai G. Roles of mitochondria in human disease. Essays Biochem 2010;47:115-37. [PMID: 20533904 DOI: 10.1042/bse0470115] [Cited by in Crossref: 113] [Cited by in F6Publishing: 95] [Article Influence: 9.4] [Reference Citation Analysis]
24 Bannwarth S, Berg-Alonso L, Augé G, Fragaki K, Kolesar JE, Lespinasse F, Lacas-Gervais S, Burel-Vandenbos F, Villa E, Belmonte F, Michiels JF, Ricci JE, Gherardi R, Harrington L, Kaufman BA, Paquis-Flucklinger V. Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice. Mitochondrion 2016;30:126-37. [PMID: 26923168 DOI: 10.1016/j.mito.2016.02.005] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 3.7] [Reference Citation Analysis]
25 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]
26 Wendelsdorf KV, Song Z, Cao Y, Samuels DC. An analysis of enzyme kinetics data for mitochondrial DNA strand termination by nucleoside reverse transcription inhibitors. PLoS Comput Biol 2009;5:e1000261. [PMID: 19132079 DOI: 10.1371/journal.pcbi.1000261] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.6] [Reference Citation Analysis]
27 Zhang VW, Wang J. Determination of the clinical significance of an unclassified variant. Methods Mol Biol 2012;837:337-48. [PMID: 22215559 DOI: 10.1007/978-1-61779-504-6_23] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 0.9] [Reference Citation Analysis]
28 Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC Neurol 2011;11:4. [PMID: 21235791 DOI: 10.1186/1471-2377-11-4] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 2.5] [Reference Citation Analysis]
29 Saneto RP, Sedensky MM. Mitochondrial disease in childhood: mtDNA encoded. Neurotherapeutics 2013;10:199-211. [PMID: 23224691 DOI: 10.1007/s13311-012-0167-0] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
30 Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: New clinical case and novel molecular findings. J Inherit Metab Dis 2008;31:419-23. [DOI: 10.1007/s10545-008-0981-z] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 1.0] [Reference Citation Analysis]
31 Reeve AK, Lightowlers RN. An Introduction to Mitochondria. In: Reeve AK, Krishnan KJ, Duchen MR, Turnbull DM, editors. Mitochondrial Dysfunction in Neurodegenerative Disorders. London: Springer; 2012. pp. 3-18. [DOI: 10.1007/978-0-85729-701-3_1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
32 Long J, Wang M, Chen B, Zhang J, Wang B. Chronic hepatitis B: a critical discussion. Future Virology 2017;12:111-7. [DOI: 10.2217/fvl-2016-0094] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
33 Verge B, Alonso Y, Valero J, Miralles C, Vilella E, Martorell L. Mitochondrial DNA (mtDNA) and schizophrenia. Eur Psychiatry 2011;26:45-56. [PMID: 20980130 DOI: 10.1016/j.eurpsy.2010.08.008] [Cited by in Crossref: 60] [Cited by in F6Publishing: 55] [Article Influence: 5.0] [Reference Citation Analysis]
34 Amiott EA, Lott P, Soto J, Kang PB, McCaffery JM, DiMauro S, Abel ED, Flanigan KM, Lawson VH, Shaw JM. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. Exp Neurol 2008;211:115-27. [PMID: 18316077 DOI: 10.1016/j.expneurol.2008.01.010] [Cited by in Crossref: 66] [Cited by in F6Publishing: 63] [Article Influence: 4.7] [Reference Citation Analysis]
35 DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol 2013;9:429-44. [PMID: 23835535 DOI: 10.1038/nrneurol.2013.126] [Cited by in Crossref: 210] [Cited by in F6Publishing: 178] [Article Influence: 23.3] [Reference Citation Analysis]
36 Favre C, Zhdanov A, Leahy M, Papkovsky D, O'Connor R. Mitochondrial pyrimidine nucleotide carrier (PNC1) regulates mitochondrial biogenesis and the invasive phenotype of cancer cells. Oncogene 2010;29:3964-76. [PMID: 20453889 DOI: 10.1038/onc.2010.146] [Cited by in Crossref: 58] [Cited by in F6Publishing: 54] [Article Influence: 4.8] [Reference Citation Analysis]
37 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]
38 Davis RE, Williams M. Mitochondrial function and dysfunction: an update. J Pharmacol Exp Ther 2012;342:598-607. [PMID: 22700430 DOI: 10.1124/jpet.112.192104] [Cited by in Crossref: 43] [Cited by in F6Publishing: 45] [Article Influence: 4.3] [Reference Citation Analysis]
39 Copeland WC, Longley MJ. Mitochondrial genome maintenance in health and disease. DNA Repair (Amst) 2014;19:190-8. [PMID: 24780559 DOI: 10.1016/j.dnarep.2014.03.010] [Cited by in Crossref: 88] [Cited by in F6Publishing: 75] [Article Influence: 11.0] [Reference Citation Analysis]
40 Wanrooij S, Falkenberg M. The human mitochondrial replication fork in health and disease. Biochim Biophys Acta 2010;1797:1378-88. [PMID: 20417176 DOI: 10.1016/j.bbabio.2010.04.015] [Cited by in Crossref: 77] [Cited by in F6Publishing: 72] [Article Influence: 6.4] [Reference Citation Analysis]
41 Kohler JJ, Hosseini SH, Cucoranu I, Hoying-Brandt A, Green E, Johnson D, Wittich B, Srivastava J, Ivey K, Fields E, Russ R, Raper CM, Santoianni R, Lewis W. Murine cardiac mtDNA: effects of transgenic manipulation of nucleoside phosphorylation. Lab Invest 2009;89:122-30. [PMID: 19079325 DOI: 10.1038/labinvest.2008.121] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 1.1] [Reference Citation Analysis]
42 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]
43 Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014;137:1323-36. [PMID: 24727571 DOI: 10.1093/brain/awu060] [Cited by in Crossref: 103] [Cited by in F6Publishing: 88] [Article Influence: 12.9] [Reference Citation Analysis]
44 Lodeiro MF, Uchida AU, Arnold JJ, Reynolds SL, Moustafa IM, Cameron CE. Identification of multiple rate-limiting steps during the human mitochondrial transcription cycle in vitro. J Biol Chem 2010;285:16387-402. [PMID: 20351113 DOI: 10.1074/jbc.M109.092676] [Cited by in Crossref: 33] [Cited by in F6Publishing: 21] [Article Influence: 2.8] [Reference Citation Analysis]
45 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]
46 Smits P, Smeitink J, van den Heuvel L. Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. J Biomed Biotechnol 2010;2010:737385. [PMID: 20396601 DOI: 10.1155/2010/737385] [Cited by in Crossref: 126] [Cited by in F6Publishing: 129] [Article Influence: 10.5] [Reference Citation Analysis]
47 Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Spectrum of combined respiratory chain defects. J Inherit Metab Dis 2015;38:629-40. [PMID: 25778941 DOI: 10.1007/s10545-015-9831-y] [Cited by in Crossref: 62] [Cited by in F6Publishing: 52] [Article Influence: 8.9] [Reference Citation Analysis]
48 Chen H, Vermulst M, Wang YE, Chomyn A, Prolla TA, McCaffery JM, Chan DC. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell 2010;141:280-9. [PMID: 20403324 DOI: 10.1016/j.cell.2010.02.026] [Cited by in Crossref: 713] [Cited by in F6Publishing: 670] [Article Influence: 59.4] [Reference Citation Analysis]
49 Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC. Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. J Biol Chem 2009;284:19501-10. [PMID: 19478085 DOI: 10.1074/jbc.M109.011940] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 2.5] [Reference Citation Analysis]
50 Fuke S, Kubota-Sakashita M, Kasahara T, Shigeyoshi Y, Kato T. Regional variation in mitochondrial DNA copy number in mouse brain. Biochim Biophys Acta 2011;1807:270-4. [PMID: 21145305 DOI: 10.1016/j.bbabio.2010.11.016] [Cited by in Crossref: 36] [Cited by in F6Publishing: 35] [Article Influence: 3.0] [Reference Citation Analysis]
51 Horan MP, Cooper DN. The emergence of the mitochondrial genome as a partial regulator of nuclear function is providing new insights into the genetic mechanisms underlying age-related complex disease. Hum Genet 2014;133:435-58. [DOI: 10.1007/s00439-013-1402-4] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 2.3] [Reference Citation Analysis]
52 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]
53 Nesuashvili L, Hadley SH, Bahia PK, Taylor-Clark TE. Sensory nerve terminal mitochondrial dysfunction activates airway sensory nerves via transient receptor potential (TRP) channels. Mol Pharmacol 2013;83:1007-19. [PMID: 23444014 DOI: 10.1124/mol.112.084319] [Cited by in Crossref: 33] [Cited by in F6Publishing: 31] [Article Influence: 3.7] [Reference Citation Analysis]
54 Kaur P, Longley MJ, Pan H, Wang H, Copeland WC. Single-molecule DREEM imaging reveals DNA wrapping around human mitochondrial single-stranded DNA binding protein. Nucleic Acids Res 2018;46:11287-302. [PMID: 30256971 DOI: 10.1093/nar/gky875] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 4.0] [Reference Citation Analysis]
55 Amiot A, Tchikviladzé M, Joly F, Slama A, Hatem DC, Jardel C, Messing B, Lombès A. Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. Gastroenterology. 2009;137:101-109. [PMID: 19344718 DOI: 10.1053/j.gastro.2009.03.054] [Cited by in Crossref: 45] [Cited by in F6Publishing: 34] [Article Influence: 3.5] [Reference Citation Analysis]
56 Ruhanen H, Borrie S, Szabadkai G, Tyynismaa H, Jones AW, Kang D, Taanman J, Yasukawa T. Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2010;1803:931-9. [DOI: 10.1016/j.bbamcr.2010.04.008] [Cited by in Crossref: 48] [Cited by in F6Publishing: 45] [Article Influence: 4.0] [Reference Citation Analysis]
57 Diaz F, Moraes CT. Mitochondrial biogenesis and turnover. Cell Calcium 2008;44:24-35. [PMID: 18395251 DOI: 10.1016/j.ceca.2007.12.004] [Cited by in Crossref: 86] [Cited by in F6Publishing: 81] [Article Influence: 6.1] [Reference Citation Analysis]
58 Chan SS, Copeland WC. DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta 2009;1787:312-9. [PMID: 19010300 DOI: 10.1016/j.bbabio.2008.10.007] [Cited by in Crossref: 105] [Cited by in F6Publishing: 103] [Article Influence: 7.5] [Reference Citation Analysis]
59 El-Khoury R, Sainsard-Chanet A. Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina. Genetics 2009;183:861-71. [PMID: 19687137 DOI: 10.1534/genetics.109.107813] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 0.8] [Reference Citation Analysis]
60 Baxter KK, Uittenbogaard M, Chiaramello A. The neurogenic basic helix-loop-helix transcription factor NeuroD6 enhances mitochondrial biogenesis and bioenergetics to confer tolerance of neuronal PC12-NeuroD6 cells to the mitochondrial stressor rotenone. Exp Cell Res 2012;318:2200-14. [PMID: 22814253 DOI: 10.1016/j.yexcr.2012.07.004] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.2] [Reference Citation Analysis]
61 Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord 2012;22:587-91. [PMID: 22508010 DOI: 10.1016/j.nmd.2012.03.006] [Cited by in Crossref: 43] [Cited by in F6Publishing: 35] [Article Influence: 4.3] [Reference Citation Analysis]
62 Cohen BH. Pharmacologic effects on mitochondrial function. Dev Disabil Res Rev 2010;16:189-99. [PMID: 20818734 DOI: 10.1002/ddrr.106] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 3.0] [Reference Citation Analysis]
63 Longley MJ, Humble MM, Sharief FS, Copeland WC. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. J Biol Chem 2010;285:29690-702. [PMID: 20659899 DOI: 10.1074/jbc.M110.151795] [Cited by in Crossref: 36] [Cited by in F6Publishing: 29] [Article Influence: 3.0] [Reference Citation Analysis]
64 Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010;133:771-86. [PMID: 20157015 DOI: 10.1093/brain/awq007] [Cited by in Crossref: 264] [Cited by in F6Publishing: 233] [Article Influence: 22.0] [Reference Citation Analysis]
65 Gandhi VV, Samuels DC. A review comparing deoxyribonucleoside triphosphate (dNTP) concentrations in the mitochondrial and cytoplasmic compartments of normal and transformed cells. Nucleosides Nucleotides Nucleic Acids 2011;30:317-39. [PMID: 21774628 DOI: 10.1080/15257770.2011.586955] [Cited by in Crossref: 37] [Cited by in F6Publishing: 37] [Article Influence: 3.4] [Reference Citation Analysis]
66 Marín-García J, Damle S, Jugdutt BI, Moe GW. Nuclear-mitochondrial cross-talk in global myocardial ischemia. A time-course analysis. Mol Cell Biochem 2012;364:225-34. [PMID: 22227919 DOI: 10.1007/s11010-011-1221-7] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
67 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]
68 Kasiviswanathan R, Collins TR, Copeland WC. The interface of transcription and DNA replication in the mitochondria. Biochim Biophys Acta 2012;1819:970-8. [PMID: 22207204 DOI: 10.1016/j.bbagrm.2011.12.005] [Cited by in Crossref: 30] [Cited by in F6Publishing: 29] [Article Influence: 2.7] [Reference Citation Analysis]
69 Klingbeil MM, Shapiro TA. Unraveling the secrets of regulating mitochondrial DNA replication. Mol Cell 2009;35:398-400. [PMID: 19716784 DOI: 10.1016/j.molcel.2009.08.007] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
70 Wenz T. PGC-1α activation as a therapeutic approach in mitochondrial disease. IUBMB Life 2009;61:1051-62. [DOI: 10.1002/iub.261] [Cited by in Crossref: 69] [Cited by in F6Publishing: 65] [Article Influence: 5.3] [Reference Citation Analysis]
71 Liesa M, Palacín M, Zorzano A. Mitochondrial dynamics in mammalian health and disease. Physiol Rev. 2009;89:799-845. [PMID: 19584314 DOI: 10.1152/physrev.00030.2008] [Cited by in Crossref: 606] [Cited by in F6Publishing: 568] [Article Influence: 46.6] [Reference Citation Analysis]
72 Khodour Y, Kaguni LS, Stiban J. Iron-sulfur clusters in nucleic acid metabolism: Varying roles of ancient cofactors. Enzymes 2019;45:225-56. [PMID: 31627878 DOI: 10.1016/bs.enz.2019.08.003] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
73 Barańska S, Glinkowska M, Herman-Antosiewicz A, Maciąg-Dorszyńska M, Nowicki D, Szalewska-Pałasz A, Węgrzyn A, Węgrzyn G. Replicating DNA by cell factories: roles of central carbon metabolism and transcription in the control of DNA replication in microbes, and implications for understanding this process in human cells. Microb Cell Fact 2013;12:55. [PMID: 23714207 DOI: 10.1186/1475-2859-12-55] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 1.7] [Reference Citation Analysis]
74 Someya S, Kujoth GC, Kim MJ, Hacker TA, Vermulst M, Weindruch R, Prolla TA. Effects of calorie restriction on the lifespan and healthspan of POLG mitochondrial mutator mice. PLoS One 2017;12:e0171159. [PMID: 28158260 DOI: 10.1371/journal.pone.0171159] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
75 Krüger J, Hinttala R, Majamaa K, Remes AM. Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration. Mol Neurodegener 2010;5:8. [PMID: 20181062 DOI: 10.1186/1750-1326-5-8] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 1.8] [Reference Citation Analysis]
76 Halsne R, Esbensen Y, Wang W, Scheffler K, Suganthan R, Bjørås M, Eide L. Lack of the DNA glycosylases MYH and OGG1 in the cancer prone double mutant mouse does not increase mitochondrial DNA mutagenesis. DNA Repair (Amst) 2012;11:278-85. [PMID: 22209780 DOI: 10.1016/j.dnarep.2011.12.001] [Cited by in Crossref: 32] [Cited by in F6Publishing: 28] [Article Influence: 2.9] [Reference Citation Analysis]
77 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]
78 Ferraro P, Franzolin E, Pontarin G, Reichard P, Bianchi V. Quantitation of cellular deoxynucleoside triphosphates. Nucleic Acids Res 2010;38:e85. [PMID: 20008099 DOI: 10.1093/nar/gkp1141] [Cited by in Crossref: 116] [Cited by in F6Publishing: 109] [Article Influence: 8.9] [Reference Citation Analysis]
79 Fernández-Ayala DJ, Chen S, Kemppainen E, O'Dell KM, Jacobs HT. Gene expression in a Drosophila model of mitochondrial disease. PLoS One 2010;5:e8549. [PMID: 20066047 DOI: 10.1371/journal.pone.0008549] [Cited by in Crossref: 52] [Cited by in F6Publishing: 48] [Article Influence: 4.3] [Reference Citation Analysis]
80 Pinti M, Cevenini E, Nasi M, De Biasi S, Salvioli S, Monti D, Benatti S, Gibellini L, Cotichini R, Stazi MA, Trenti T, Franceschi C, Cossarizza A. Circulating mitochondrial DNA increases with age and is a familiar trait: Implications for "inflamm-aging". Eur J Immunol 2014;44:1552-62. [PMID: 24470107 DOI: 10.1002/eji.201343921] [Cited by in Crossref: 180] [Cited by in F6Publishing: 164] [Article Influence: 22.5] [Reference Citation Analysis]
81 Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC. Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Hum Mol Genet 2011;20:3052-66. [PMID: 21555342 DOI: 10.1093/hmg/ddr209] [Cited by in Crossref: 46] [Cited by in F6Publishing: 46] [Article Influence: 4.2] [Reference Citation Analysis]
82 Antes A, Tappin I, Chung S, Lim R, Lu B, Parrott AM, Hill HZ, Suzuki CK, Lee CG. Differential regulation of full-length genome and a single-stranded 7S DNA along the cell cycle in human mitochondria. Nucleic Acids Res 2010;38:6466-76. [PMID: 20530535 DOI: 10.1093/nar/gkq493] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 1.9] [Reference Citation Analysis]
83 Matsushima Y, Farr CL, Fan L, Kaguni LS. Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase. J Biol Chem 2008;283:23964-71. [PMID: 18593709 DOI: 10.1074/jbc.M803674200] [Cited by in Crossref: 21] [Cited by in F6Publishing: 15] [Article Influence: 1.5] [Reference Citation Analysis]
84 Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC. mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum Mol Genet 2010;19:2123-33. [PMID: 20185557 DOI: 10.1093/hmg/ddq089] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 2.6] [Reference Citation Analysis]
85 Ciccia A, Elledge SJ. The DNA damage response: making it safe to play with knives. Mol Cell 2010;40:179-204. [PMID: 20965415 DOI: 10.1016/j.molcel.2010.09.019] [Cited by in Crossref: 2558] [Cited by in F6Publishing: 2413] [Article Influence: 213.2] [Reference Citation Analysis]
86 Peralta S, Wang X, Moraes CT. Mitochondrial transcription: lessons from mouse models. Biochim Biophys Acta 2012;1819:961-9. [PMID: 22120174 DOI: 10.1016/j.bbagrm.2011.11.001] [Cited by in Crossref: 33] [Cited by in F6Publishing: 31] [Article Influence: 3.0] [Reference Citation Analysis]
87 Sato K, Yabe I, Yaguchi H, Nakano F, Kunieda Y, Saitoh S, Sasaki H. Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. J Neurol 2011;258:1327-32. [PMID: 21301859 DOI: 10.1007/s00415-011-5936-x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.1] [Reference Citation Analysis]
88 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]
89 Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH. Next generation sequence analysis for mitochondrial disorders. Genome Med 2009;1:100. [PMID: 19852779 DOI: 10.1186/gm100] [Cited by in Crossref: 81] [Cited by in F6Publishing: 67] [Article Influence: 6.2] [Reference Citation Analysis]
90 Qian Y, Kachroo AH, Yellman CM, Marcotte EM, Johnson KA. Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progression. J Biol Chem 2014;289:5970-85. [PMID: 24398692 DOI: 10.1074/jbc.M113.526418] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.5] [Reference Citation Analysis]
91 Shanbhag V, Sachdev S, Flores JA, Modak MJ, Singh K. Family A and B DNA Polymerases in Cancer: Opportunities for Therapeutic Interventions. Biology (Basel) 2018;7:E5. [PMID: 29301327 DOI: 10.3390/biology7010005] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
92 Ylikallio E, Tyynismaa H, Tsutsui H, Ide T, Suomalainen A. High mitochondrial DNA copy number has detrimental effects in mice. Hum Mol Genet 2010;19:2695-705. [PMID: 20413656 DOI: 10.1093/hmg/ddq163] [Cited by in Crossref: 90] [Cited by in F6Publishing: 86] [Article Influence: 7.5] [Reference Citation Analysis]
93 Akbari M, Keijzers G, Maynard S, Scheibye-Knudsen M, Desler C, Hickson ID, Bohr VA. Overexpression of DNA ligase III in mitochondria protects cells against oxidative stress and improves mitochondrial DNA base excision repair. DNA Repair (Amst) 2014;16:44-53. [PMID: 24674627 DOI: 10.1016/j.dnarep.2014.01.015] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 3.1] [Reference Citation Analysis]
94 Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66:1028-1032. [PMID: 19667227 DOI: 10.1001/archneurol.2009.139] [Cited by in Crossref: 75] [Cited by in F6Publishing: 64] [Article Influence: 5.8] [Reference Citation Analysis]
95 Wong TS, Rajagopalan S, Freund SM, Rutherford TJ, Andreeva A, Townsley FM, Petrovich M, Fersht AR. Biophysical characterizations of human mitochondrial transcription factor A and its binding to tumor suppressor p53. Nucleic Acids Res 2009;37:6765-83. [PMID: 19755502 DOI: 10.1093/nar/gkp750] [Cited by in Crossref: 76] [Cited by in F6Publishing: 73] [Article Influence: 5.8] [Reference Citation Analysis]
96 Bannwarth S, Figueroa A, Fragaki K, Destroismaisons L, Lacas-gervais S, Lespinasse F, Vandenbos F, Pradelli LA, Ricci J, Rötig A, Michiels J, Vande Velde C, Paquis-flucklinger V. The human MSH5 (MutS Homolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage. Mitochondrion 2012;12:654-65. [DOI: 10.1016/j.mito.2012.07.111] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 1.6] [Reference Citation Analysis]
97 Scaglia F. Nuclear Gene Defects in Mitochondrial Disorders. In: Wong, Ph.d. LC, editor. Mitochondrial Disorders. Totowa: Humana Press; 2012. pp. 17-34. [DOI: 10.1007/978-1-61779-504-6_2] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
98 Oliveira MT, Garesse R, Kaguni LS. Animal models of mitochondrial DNA transactions in disease and ageing. Exp Gerontol 2010;45:489-502. [PMID: 20123011 DOI: 10.1016/j.exger.2010.01.019] [Cited by in Crossref: 24] [Cited by in F6Publishing: 21] [Article Influence: 2.0] [Reference Citation Analysis]
99 St John JC. Genomic Balance: Two Genomes Establishing Synchrony to Modulate Cellular Fate and Function. Cells 2019;8:E1306. [PMID: 31652817 DOI: 10.3390/cells8111306] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.3] [Reference Citation Analysis]
100 de la Fuente-Herreruela D, Gónzalez-Charro V, Almendro-Vedia VG, Morán M, Martín MÁ, Lillo MP, Natale P, López-Montero I. Rhodamine-based sensor for real-time imaging of mitochondrial ATP in living fibroblasts. Biochim Biophys Acta Bioenerg 2017;1858:999-1006. [PMID: 28947254 DOI: 10.1016/j.bbabio.2017.09.004] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
101 Simcox EM, Reeve AK. An Introduction to Mitochondria, Their Structure and Functions. In: Reeve AK, Simcox EM, Duchen MR, Turnbull DM, editors. Mitochondrial Dysfunction in Neurodegenerative Disorders. Cham: Springer International Publishing; 2016. pp. 3-30. [DOI: 10.1007/978-3-319-28637-2_1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
102 Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes. J Neurol 2022. [PMID: 35235001 DOI: 10.1007/s00415-022-11026-w] [Reference Citation Analysis]
103 Young MJ, Copeland WC. Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions. In: Wong LC, editor. Mitochondrial Disorders Caused by Nuclear Genes. New York: Springer; 2013. pp. 49-72. [DOI: 10.1007/978-1-4614-3722-2_3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
104 Sedlackova H, Cechova B, Mlcouskova J, Krejci L. RECQ4 selectively recognizes Holliday junctions. DNA Repair (Amst) 2015;30:80-9. [PMID: 25769792 DOI: 10.1016/j.dnarep.2015.02.020] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.4] [Reference Citation Analysis]
105 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]
106 Gustafson MA, Perera L, Shi M, Copeland WC. Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces. DNA Repair (Amst) 2021;107:103212. [PMID: 34464898 DOI: 10.1016/j.dnarep.2021.103212] [Reference Citation Analysis]
107 Elachouri G, Vidoni S, Zanna C, Pattyn A, Boukhaddaoui H, Gaget K, Yu-Wai-Man P, Gasparre G, Sarzi E, Delettre C, Olichon A, Loiseau D, Reynier P, Chinnery PF, Rotig A, Carelli V, Hamel CP, Rugolo M, Lenaers G. OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res 2011;21:12-20. [PMID: 20974897 DOI: 10.1101/gr.108696.110] [Cited by in Crossref: 144] [Cited by in F6Publishing: 137] [Article Influence: 12.0] [Reference Citation Analysis]
108 Týč J, Klingbeil MM, Lukeš J. Mitochondrial heat shock protein machinery hsp70/hsp40 is indispensable for proper mitochondrial DNA maintenance and replication. mBio 2015;6:e02425-14. [PMID: 25670781 DOI: 10.1128/mBio.02425-14] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 2.7] [Reference Citation Analysis]
109 Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CME, Zeviani M, Burgunder J, Gasser T. EFNS guidelines on the molecular diagnosis of mitochondrial disorders: Molecular diagnosis of mitochondrial disorders. European Journal of Neurology 2009;16:1255-64. [DOI: 10.1111/j.1468-1331.2009.02811.x] [Cited by in Crossref: 46] [Cited by in F6Publishing: 36] [Article Influence: 3.5] [Reference Citation Analysis]
110 Selim LA, Hassaan H. Mitochondrial Diseases as Model of Neurodegeneration. In: El-khamisy S, editor. Personalised Medicine. Cham: Springer International Publishing; 2017. pp. 129-55. [DOI: 10.1007/978-3-319-60733-7_8] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
111 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]
112 Nishiyama S, Shitara H, Nakada K, Ono T, Sato A, Suzuki H, Ogawa T, Masaki H, Hayashi J, Yonekawa H. Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system. Biochem Biophys Res Commun 2010;401:26-31. [PMID: 20816751 DOI: 10.1016/j.bbrc.2010.08.143] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 2.0] [Reference Citation Analysis]
113 Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. Biochim Biophys Acta 2011;1812:321-5. [PMID: 21138766 DOI: 10.1016/j.bbadis.2010.11.012] [Cited by in Crossref: 27] [Cited by in F6Publishing: 26] [Article Influence: 2.3] [Reference Citation Analysis]
114 Vega RB, Horton JL, Kelly DP. Maintaining ancient organelles: mitochondrial biogenesis and maturation. Circ Res 2015;116:1820-34. [PMID: 25999422 DOI: 10.1161/CIRCRESAHA.116.305420] [Cited by in Crossref: 68] [Cited by in F6Publishing: 44] [Article Influence: 9.7] [Reference Citation Analysis]
115 Matsushima Y, Kaguni LS. Functional importance of the conserved N-terminal domain of the mitochondrial replicative DNA helicase. Biochim Biophys Acta 2009;1787:290-5. [PMID: 19063859 DOI: 10.1016/j.bbabio.2008.11.005] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 0.9] [Reference Citation Analysis]
116 Gerhold JM, Sedman T, Visacka K, Slezakova J, Tomaska L, Nosek J, Sedman J. Replication intermediates of the linear mitochondrial DNA of Candida parapsilosis suggest a common recombination based mechanism for yeast mitochondria. J Biol Chem 2014;289:22659-70. [PMID: 24951592 DOI: 10.1074/jbc.M114.552828] [Cited by in Crossref: 22] [Cited by in F6Publishing: 15] [Article Influence: 2.8] [Reference Citation Analysis]
117 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]
118 Song Z, Cao Y, Samuels DC. Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study. PLoS Comput Biol 2011;7:e1002287. [PMID: 22125488 DOI: 10.1371/journal.pcbi.1002287] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
119 Copeland WC, Longley MJ. DNA2 resolves expanding flap in mitochondrial base excision repair. Mol Cell 2008;32:457-8. [PMID: 19026774 DOI: 10.1016/j.molcel.2008.11.007] [Cited by in Crossref: 39] [Cited by in F6Publishing: 36] [Article Influence: 3.0] [Reference Citation Analysis]
120 Vasileiou PVS, Mourouzis I, Pantos C. Principal Aspects Regarding the Maintenance of Mammalian Mitochondrial Genome Integrity. Int J Mol Sci 2017;18:E1821. [PMID: 28829360 DOI: 10.3390/ijms18081821] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 3.2] [Reference Citation Analysis]
121 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]
122 Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype. BMC Neurol 2010;10:29. [PMID: 20438629 DOI: 10.1186/1471-2377-10-29] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 1.0] [Reference Citation Analysis]
123 Doğulu N, Tuna Kırsaçlıoğlu C, Köse E, Ünlüsoy Aksu A, Kuloğlu Z, Kansu A, Eminoğlu FT. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series. J Pediatr Endocrinol Metab 2021. [PMID: 34167177 DOI: 10.1515/jpem-2021-0108] [Reference Citation Analysis]
124 Haroon S, Li A, Weinert JL, Fritsch C, Ericson NG, Alexander-Floyd J, Braeckman BP, Haynes CM, Bielas JH, Gidalevitz T, Vermulst M. Multiple Molecular Mechanisms Rescue mtDNA Disease in C. elegans. Cell Rep 2018;22:3115-25. [PMID: 29562168 DOI: 10.1016/j.celrep.2018.02.099] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 4.7] [Reference Citation Analysis]
125 Kohler JJ, Hosseini SH, Lewis W. Mitochondrial DNA impairment in nucleoside reverse transcriptase inhibitor-associated cardiomyopathy. Chem Res Toxicol 2008;21:990-6. [PMID: 18393452 DOI: 10.1021/tx8000219] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 0.6] [Reference Citation Analysis]
126 Kasahara T, Kato T. What Can Mitochondrial DNA Analysis Tell Us About Mood Disorders? Biological Psychiatry 2018;83:731-8. [DOI: 10.1016/j.biopsych.2017.09.010] [Cited by in Crossref: 14] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
127 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]
128 Koene S, Smeitink J. Mitochondrial medicine: entering the era of treatment. J Intern Med 2009;265:193-209. [PMID: 19192036 DOI: 10.1111/j.1365-2796.2008.02058.x] [Cited by in Crossref: 57] [Cited by in F6Publishing: 50] [Article Influence: 4.4] [Reference Citation Analysis]
129 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]
130 Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM. Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis. J Child Neurol 2011;26:866-75. [DOI: 10.1177/0883073811402072] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 0.7] [Reference Citation Analysis]
131 Copeland WC. Defects of mitochondrial DNA replication. J Child Neurol 2014;29:1216-24. [PMID: 24985751 DOI: 10.1177/0883073814537380] [Cited by in Crossref: 35] [Cited by in F6Publishing: 27] [Article Influence: 4.4] [Reference Citation Analysis]
132 Guja KE, Venkataraman K, Yakubovskaya E, Shi H, Mejia E, Hambardjieva E, Karzai AW, Garcia-Diaz M. Structural basis for S-adenosylmethionine binding and methyltransferase activity by mitochondrial transcription factor B1. Nucleic Acids Res 2013;41:7947-59. [PMID: 23804760 DOI: 10.1093/nar/gkt547] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 1.8] [Reference Citation Analysis]
133 Lattuada D, Alfonsi G, Roncati L, Pusiol T, Bulfoni A, Ferrero S, Lavezzi A. Mitochondrial DNA content: A new biomarker for sudden intrauterine unexplained death syndrome (SIUDS). Mitochondrion 2018;40:13-5. [DOI: 10.1016/j.mito.2017.09.001] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
134 Zick M, Reichert AS. Mitochondria. In: Nabi IR, editor. Cellular Domains. Hoboken: John Wiley & Sons, Inc.; 2011. pp. 87-111. [DOI: 10.1002/9781118015759.ch6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
135 Behar DM, Blue-Smith J, Soria-Hernanz DF, Tzur S, Hadid Y, Bormans C, Moen A, Tyler-Smith C, Quintana-Murci L, Wells RS; Genographic Consortium. A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Hum Mutat 2008;29:1387-91. [PMID: 18629826 DOI: 10.1002/humu.20835] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 0.6] [Reference Citation Analysis]
136 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]
137 Rooney JP, Ryde IT, Sanders LH, Howlett EH, Colton MD, Germ KE, Mayer GD, Greenamyre JT, Meyer JN. PCR based determination of mitochondrial DNA copy number in multiple species. Methods Mol Biol 2015;1241:23-38. [PMID: 25308485 DOI: 10.1007/978-1-4939-1875-1_3] [Cited by in Crossref: 171] [Cited by in F6Publishing: 159] [Article Influence: 24.4] [Reference Citation Analysis]
138 Buj R, Aird KM. Deoxyribonucleotide Triphosphate Metabolism in Cancer and Metabolic Disease. Front Endocrinol (Lausanne) 2018;9:177. [PMID: 29720963 DOI: 10.3389/fendo.2018.00177] [Cited by in Crossref: 29] [Cited by in F6Publishing: 24] [Article Influence: 7.3] [Reference Citation Analysis]
139 Humble MM, Young MJ, Foley JF, Pandiri AR, Travlos GS, Copeland WC. Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance. Hum Mol Genet 2013;22:1017-25. [PMID: 23197651 DOI: 10.1093/hmg/dds506] [Cited by in Crossref: 46] [Cited by in F6Publishing: 41] [Article Influence: 4.6] [Reference Citation Analysis]
140 Saneto RP, Naviaux RK. Polymerase gamma disease through the ages. Dev Disabil Res Revs 2010;16:163-74. [DOI: 10.1002/ddrr.105] [Cited by in Crossref: 55] [Cited by in F6Publishing: 46] [Article Influence: 4.6] [Reference Citation Analysis]
141 Gorman GS, Taylor RW. Mitochondrial DNA abnormalities in ophthalmological disease. Saudi J Ophthalmol 2011;25:395-404. [PMID: 23960954 DOI: 10.1016/j.sjopt.2011.02.002] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
142 Chrzanowska-Lightowlers ZM, Horvath R, Lightowlers RN. 175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25-27th June 2010, Naarden, The Netherlands. Neuromuscul Disord 2011;21:142-7. [PMID: 21111623 DOI: 10.1016/j.nmd.2010.10.005] [Cited by in Crossref: 25] [Cited by in F6Publishing: 24] [Article Influence: 2.1] [Reference Citation Analysis]
143 Côté HC, Gerschenson M, Walker UA, Miro O, Garrabou G, Hammond E, Villarroya J, Giralt M, Villarroya F, Cinque P, Garcia-Arumi E, Andreu AL, Pinti M, Cossarizza A. Quality assessment of human mitochondrial DNA quantification: MITONAUTS, an international multicentre survey. Mitochondrion 2011;11:520-7. [PMID: 21303702 DOI: 10.1016/j.mito.2011.01.011] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 1.9] [Reference Citation Analysis]
144 Patel G, Johnson DS, Sun B, Pandey M, Yu X, Egelman EH, Wang MD, Patel SS. A257T linker region mutant of T7 helicase-primase protein is defective in DNA loading and rescued by T7 DNA polymerase. J Biol Chem 2011;286:20490-9. [PMID: 21515672 DOI: 10.1074/jbc.M110.201657] [Cited by in Crossref: 14] [Cited by in F6Publishing: 11] [Article Influence: 1.3] [Reference Citation Analysis]
145 Kasiviswanathan R, Copeland WC. Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase. J Biol Chem 2011;286:31490-500. [PMID: 21778232 DOI: 10.1074/jbc.M111.252460] [Cited by in Crossref: 53] [Cited by in F6Publishing: 33] [Article Influence: 4.8] [Reference Citation Analysis]
146 Moore AZ, Biggs ML, Matteini A, O'Connor A, McGuire S, Beamer BA, Fallin MD, Fried LP, Walston J, Chakravarti A, Arking DE. Polymorphisms in the mitochondrial DNA control region and frailty in older adults. PLoS One 2010;5:e11069. [PMID: 20548781 DOI: 10.1371/journal.pone.0011069] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 2.9] [Reference Citation Analysis]
147 Guha M, Pan H, Fang JK, Avadhani NG. Heterogeneous nuclear ribonucleoprotein A2 is a common transcriptional coactivator in the nuclear transcription response to mitochondrial respiratory stress. Mol Biol Cell 2009;20:4107-19. [PMID: 19641020 DOI: 10.1091/mbc.e09-04-0296] [Cited by in Crossref: 40] [Cited by in F6Publishing: 33] [Article Influence: 3.1] [Reference Citation Analysis]
148 St John JC. Mitochondrial DNA copy number and replication in reprogramming and differentiation. Semin Cell Dev Biol. 2016;52:93-101. [PMID: 26827792 DOI: 10.1016/j.semcdb.2016.01.028] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 4.8] [Reference Citation Analysis]
149 Moore TM, Zhou Z, Strumwasser AR, Cohn W, Lin AJ, Cory K, Whitney K, Ho T, Ho T, Lee JL, Rucker DH, Hoang AN, Widjaja K, Abrishami AD, Charugundla S, Stiles L, Whitelegge JP, Turcotte LP, Wanagat J, Hevener AL. Age-induced mitochondrial DNA point mutations are inadequate to alter metabolic homeostasis in response to nutrient challenge. Aging Cell 2020;19:e13166. [PMID: 33049094 DOI: 10.1111/acel.13166] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
150 Chanprasert S, Wang J, Weng S, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJC, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LC. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Molecular Genetics and Metabolism 2013;110:153-61. [DOI: 10.1016/j.ymgme.2013.07.009] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
151 Reddy PH. Mitochondrial medicine for aging and neurodegenerative diseases. Neuromolecular Med 2008;10:291-315. [PMID: 18566920 DOI: 10.1007/s12017-008-8044-z] [Cited by in Crossref: 130] [Cited by in F6Publishing: 122] [Article Influence: 9.3] [Reference Citation Analysis]
152 Croteau DL, Rossi ML, Canugovi C, Tian J, Sykora P, Ramamoorthy M, Wang ZM, Singh DK, Akbari M, Kasiviswanathan R, Copeland WC, Bohr VA. RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity. Aging Cell 2012;11:456-66. [PMID: 22296597 DOI: 10.1111/j.1474-9726.2012.00803.x] [Cited by in Crossref: 78] [Cited by in F6Publishing: 77] [Article Influence: 7.8] [Reference Citation Analysis]
153 Ferreira M, Evangelista T, Almeida LS, Martins J, Macario MC, Martins E, Moleirinho A, Azevedo L, Vilarinho L, Santorelli FM. Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. Neuromuscul Disord 2011;21:483-8. [PMID: 21550804 DOI: 10.1016/j.nmd.2011.03.011] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 1.2] [Reference Citation Analysis]
154 Werner SR, Saha JK, Broderick CL, Zhen EY, Higgs RE, Duffin KL, Smith RC. Proteomic analysis of demyelinated and remyelinating brain tissue following dietary cuprizone administration. J Mol Neurosci 2010;42:210-25. [PMID: 20401640 DOI: 10.1007/s12031-010-9354-9] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 1.8] [Reference Citation Analysis]
155 Cook CC, Higuchi M. The awakening of an advanced malignant cancer: an insult to the mitochondrial genome. Biochim Biophys Acta 2012;1820:652-62. [PMID: 21920409 DOI: 10.1016/j.bbagen.2011.08.017] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 1.9] [Reference Citation Analysis]
156 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]
157 Zafar MK, Ketkar A, Lodeiro MF, Cameron CE, Eoff RL. Kinetic analysis of human PrimPol DNA polymerase activity reveals a generally error-prone enzyme capable of accurately bypassing 7,8-dihydro-8-oxo-2'-deoxyguanosine. Biochemistry 2014;53:6584-94. [PMID: 25255211 DOI: 10.1021/bi501024u] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 4.6] [Reference Citation Analysis]
158 St John JC. Mitochondria and Female Germline Stem Cells-A Mitochondrial DNA Perspective. Cells 2019;8:E852. [PMID: 31398797 DOI: 10.3390/cells8080852] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
159 Gatt AP, Jones EL, Francis PT, Ballard C, Bateman JM. Association of a polymorphism in mitochondrial transcription factor A (TFAM) with Parkinson's disease dementia but not dementia with Lewy bodies. Neuroscience Letters 2013;557:177-80. [DOI: 10.1016/j.neulet.2013.10.045] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 2.3] [Reference Citation Analysis]
160 Lebedeva MA, Eaton JS, Shadel GS. Loss of p53 causes mitochondrial DNA depletion and altered mitochondrial reactive oxygen species homeostasis. Biochim Biophys Acta 2009;1787:328-34. [PMID: 19413947 DOI: 10.1016/j.bbabio.2009.01.004] [Cited by in Crossref: 135] [Cited by in F6Publishing: 130] [Article Influence: 10.4] [Reference Citation Analysis]
161 Zhang H. Mechanisms of mutagenesis induced by DNA lesions: multiple factors affect mutations in translesion DNA synthesis. Crit Rev Biochem Mol Biol 2020;55:219-51. [PMID: 32448001 DOI: 10.1080/10409238.2020.1768205] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
162 Paepe BD, Bleecker JLD, Coster RV. Histochemical Methods for the Diagnosis of Mitochondrial Diseases. Current Protocols in Human Genetics 2009;63. [DOI: 10.1002/0471142905.hg1902s63] [Cited by in Crossref: 4] [Cited by in F6Publishing: 8] [Article Influence: 0.3] [Reference Citation Analysis]
163 Walter MC, Czermin B, Muller-ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 2010;257:1517-23. [DOI: 10.1007/s00415-010-5565-9] [Cited by in Crossref: 30] [Cited by in F6Publishing: 31] [Article Influence: 2.5] [Reference Citation Analysis]
164 Jackson CB, Gallati S, Schaller A. qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy. Biochem Biophys Res Commun 2012;423:441-7. [PMID: 22683632 DOI: 10.1016/j.bbrc.2012.05.121] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
165 Stumpf JD, Saneto RP, Copeland WC. Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol 2013;5:a011395. [PMID: 23545419 DOI: 10.1101/cshperspect.a011395] [Cited by in Crossref: 81] [Cited by in F6Publishing: 67] [Article Influence: 9.0] [Reference Citation Analysis]
166 Schapira AH. Mitochondrial diseases. The Lancet 2012;379:1825-34. [DOI: 10.1016/s0140-6736(11)61305-6] [Cited by in Crossref: 298] [Cited by in F6Publishing: 145] [Article Influence: 29.8] [Reference Citation Analysis]
167 Horvath R, Gorman G, Chinnery PF. How can we treat mitochondrial encephalomyopathies? Approaches to therapy. Neurotherapeutics 2008;5:558-68. [PMID: 19019307 DOI: 10.1016/j.nurt.2008.07.002] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 1.6] [Reference Citation Analysis]
168 Mbantenkhu M, Wang X, Nardozzi JD, Wilkens S, Hoffman E, Patel A, Cosgrove MS, Chen XJ. Mgm101 is a Rad52-related protein required for mitochondrial DNA recombination. J Biol Chem 2011;286:42360-70. [PMID: 22027892 DOI: 10.1074/jbc.M111.307512] [Cited by in Crossref: 34] [Cited by in F6Publishing: 22] [Article Influence: 3.1] [Reference Citation Analysis]
169 Lee J, Wong SA, Li BU, Boles RG. NextGen nuclear DNA sequencing in cyclic vomiting syndrome reveals a significant association with the stress-induced calcium channel (RYR2). Neurogastroenterol Motil 2015;27:990-6. [PMID: 25925909 DOI: 10.1111/nmo.12575] [Cited by in Crossref: 19] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
170 Sinsky J, Pichlerova K, Hanes J. Tau Protein Interaction Partners and Their Roles in Alzheimer's Disease and Other Tauopathies. Int J Mol Sci 2021;22:9207. [PMID: 34502116 DOI: 10.3390/ijms22179207] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
171 Wang X, Salinas K, Zuo X, Kucejova B, Chen XJ. Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases. Hum Mol Genet 2008;17:4036-44. [PMID: 18809618 DOI: 10.1093/hmg/ddn306] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 1.7] [Reference Citation Analysis]
172 Liu B, Xue Q, Tang Y, Cao J, Guengerich FP, Zhang H. Mechanisms of mutagenesis: DNA replication in the presence of DNA damage. Mutat Res Rev Mutat Res 2016;768:53-67. [PMID: 27234563 DOI: 10.1016/j.mrrev.2016.03.006] [Cited by in Crossref: 36] [Cited by in F6Publishing: 33] [Article Influence: 6.0] [Reference Citation Analysis]
173 Young MJ, Copeland WC. Human mitochondrial DNA replication machinery and disease. Curr Opin Genet Dev 2016;38:52-62. [PMID: 27065468 DOI: 10.1016/j.gde.2016.03.005] [Cited by in Crossref: 111] [Cited by in F6Publishing: 98] [Article Influence: 18.5] [Reference Citation Analysis]
174 Wu J, Feng L, Hsieh TS. Drosophila topo IIIalpha is required for the maintenance of mitochondrial genome and male germ-line stem cells. Proc Natl Acad Sci U S A 2010;107:6228-33. [PMID: 20308575 DOI: 10.1073/pnas.1001855107] [Cited by in Crossref: 30] [Cited by in F6Publishing: 25] [Article Influence: 2.5] [Reference Citation Analysis]
175 McKinnon PJ. Maintaining genome stability in the nervous system. Nat Neurosci. 2013;16:1523-1529. [PMID: 24165679 DOI: 10.1038/nn.3537] [Cited by in Crossref: 128] [Cited by in F6Publishing: 120] [Article Influence: 14.2] [Reference Citation Analysis]
176 Sullivan ED, Longley MJ, Copeland WC. Polymerase γ efficiently replicates through many natural template barriers but stalls at the HSP1 quadruplex. J Biol Chem 2020;295:17802-15. [PMID: 33454015 DOI: 10.1074/jbc.RA120.015390] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 3.0] [Reference Citation Analysis]
177 Almannai M, El-Hattab AW, Scaglia F. Mitochondrial DNA replication: clinical syndromes. Essays Biochem 2018;62:297-308. [PMID: 29950321 DOI: 10.1042/EBC20170101] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
178 Smidansky ED, Arnold JJ, Reynolds SL, Cameron CE. Human mitochondrial RNA polymerase: evaluation of the single-nucleotide-addition cycle on synthetic RNA/DNA scaffolds. Biochemistry 2011;50:5016-32. [PMID: 21548588 DOI: 10.1021/bi200350d] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 1.9] [Reference Citation Analysis]
179 Deltenre P, Van Maldergem L. Hearing loss and deafness in the pediatric population. Pediatric Neurology Part III. Elsevier; 2013. pp. 1527-38. [DOI: 10.1016/b978-0-444-59565-2.00023-x] [Cited by in Crossref: 13] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
180 Falkenberg M, Larsson NG. Structure casts light on mtDNA replication. Cell 2009;139:231-3. [PMID: 19837028 DOI: 10.1016/j.cell.2009.09.030] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.4] [Reference Citation Analysis]
181 Xu L, Shi R. Weigh and wait: the prospect of mitochondrial gene replacement. Hum Fertil (Camb) 2016;19:222-9. [PMID: 27636744 DOI: 10.1080/14647273.2016.1230234] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
182 Qian W, Van Houten B. Alterations in bioenergetics due to changes in mitochondrial DNA copy number. Methods 2010;51:452-7. [PMID: 20347038 DOI: 10.1016/j.ymeth.2010.03.006] [Cited by in Crossref: 83] [Cited by in F6Publishing: 86] [Article Influence: 6.9] [Reference Citation Analysis]
183 Zhang L, Chan SS, Wolff DJ. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med 2011;135:925-34. [PMID: 21732785 DOI: 10.5858/2010-0356-RAR.1] [Reference Citation Analysis]
184 Duguay BA, Smiley JR. Mitochondrial nucleases ENDOG and EXOG participate in mitochondrial DNA depletion initiated by herpes simplex virus 1 UL12.5. J Virol 2013;87:11787-97. [PMID: 23986585 DOI: 10.1128/JVI.02306-13] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
185 Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. PLoS One 2018;13:e0203198. [PMID: 30157269 DOI: 10.1371/journal.pone.0203198] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
186 Iacovino M, Granycome C, Sembongi H, Bokori-Brown M, Butow RA, Holt IJ, Bateman JM. The conserved translocase Tim17 prevents mitochondrial DNA loss. Hum Mol Genet 2009;18:65-74. [PMID: 18826960 DOI: 10.1093/hmg/ddn313] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 0.9] [Reference Citation Analysis]
187 Sohl CD, Kasiviswanathan R, Copeland WC, Anderson KS. Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. Hum Mol Genet 2013;22:1074-85. [PMID: 23208208 DOI: 10.1093/hmg/dds509] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 0.9] [Reference Citation Analysis]