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For: 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]
Number Citing Articles
1 Spinazzola A. Mitochondrial DNA mutations and depletion in pediatric medicine. Seminars in Fetal and Neonatal Medicine 2011;16:190-6. [DOI: 10.1016/j.siny.2011.04.011] [Cited by in Crossref: 28] [Cited by in F6Publishing: 26] [Article Influence: 2.5] [Reference Citation Analysis]
2 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]
3 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]
4 El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis 2017;1863:1539-55. [PMID: 28215579 DOI: 10.1016/j.bbadis.2017.02.017] [Cited by in Crossref: 107] [Cited by in F6Publishing: 99] [Article Influence: 21.4] [Reference Citation Analysis]
5 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]
6 Cheema TA, Swanson S. Hand involvement in Navajo neurohepatopathy: a case report. Hand (N Y) 2011;6:217-9. [PMID: 22654708 DOI: 10.1007/s11552-010-9309-1] [Reference Citation Analysis]
7 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]
8 McCue PP, Phang JM. Identification of human intracellular targets of the medicinal Herb St. John's Wort by chemical-genetic profiling in yeast. J Agric Food Chem 2008;56:11011-7. [PMID: 18975972 DOI: 10.1021/jf801593a] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 0.7] [Reference Citation Analysis]
9 Menezes MP, Ouvrier RA. Peripheral neuropathy associated with mitochondrial disease in children. Dev Med Child Neurol 2012;54:407-14. [PMID: 22435634 DOI: 10.1111/j.1469-8749.2012.04271.x] [Cited by in Crossref: 26] [Cited by in F6Publishing: 20] [Article Influence: 2.6] [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, Garone C. Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. Semin Fetal Neonatal Med 2011;16:181-9. [PMID: 21620786 DOI: 10.1016/j.siny.2011.04.010] [Cited by in Crossref: 20] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
12 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]
13 Erickson RP. Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects. J Appl Genet 2021;62:445-53. [PMID: 33880741 DOI: 10.1007/s13353-021-00630-7] [Reference Citation Analysis]
14 Luigetti M, Primiano G, Cuccagna C, Bernardo D, Sauchelli D, Vollono C, Servidei S. Small fibre neuropathy in mitochondrial diseases explored with sudoscan. Clinical Neurophysiology 2018;129:1618-23. [DOI: 10.1016/j.clinph.2018.04.755] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
15 Dimauro S. A history of mitochondrial diseases. J Inherit Metab Dis 2011;34:261-76. [PMID: 20490929 DOI: 10.1007/s10545-010-9082-x] [Cited by in Crossref: 59] [Cited by in F6Publishing: 43] [Article Influence: 4.9] [Reference Citation Analysis]
16 Finsterer J, Zarrouk Mahjoub S. Leukoencephalopathies in Mitochondrial Disorders: Clinical and MRI Findings. Journal of Neuroimaging 2012;22:e1-e11. [DOI: 10.1111/j.1552-6569.2011.00693.x] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 1.1] [Reference Citation Analysis]
17 Brugge D, Buchner V. Health effects of uranium: new research findings. Rev Environ Health 2011;26:231-49. [PMID: 22435323 DOI: 10.1515/reveh.2011.032] [Cited by in Crossref: 86] [Cited by in F6Publishing: 23] [Article Influence: 8.6] [Reference Citation Analysis]
18 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]
19 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]
20 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]
21 Iommarini L, Peralta S, Torraco A, Diaz F. Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. Mitochondrion 2015;22:96-118. [PMID: 25640959 DOI: 10.1016/j.mito.2015.01.008] [Cited by in Crossref: 19] [Cited by in F6Publishing: 17] [Article Influence: 2.7] [Reference Citation Analysis]
22 Pyal A, Paramasivam A, Meena AK, Bhavana VB, Thangaraj K. MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. Mitochondrion 2017;37:41-5. [PMID: 28673863 DOI: 10.1016/j.mito.2017.06.006] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.6] [Reference Citation Analysis]
23 Finsterer J. Inherited mitochondrial neuropathies. J Neurol Sci 2011;304:9-16. [PMID: 21402391 DOI: 10.1016/j.jns.2011.02.012] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 3.1] [Reference Citation Analysis]
24 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]
25 Sperl LE, Hagn F. NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17. J Mol Biol 2021;433:167098. [PMID: 34116124 DOI: 10.1016/j.jmb.2021.167098] [Reference Citation Analysis]
26 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]
27 Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G. "Mitochondrial neuropathies": A survey from the large cohort of the Italian Network. Neuromuscul Disord 2016;26:272-6. [PMID: 27020842 DOI: 10.1016/j.nmd.2016.02.008] [Cited by in Crossref: 23] [Cited by in F6Publishing: 24] [Article Influence: 3.8] [Reference Citation Analysis]
28 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]
29 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]
30 Souza PVS, Bortholin T, Teixeira CAC, Seneor DD, Marin VDGB, Dias RB, Farias IB, Badia BML, Silva LHL, Pinto WBVR, Oliveira ASB, DiMauro S. Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing. Mitochondrion 2019;49:25-34. [PMID: 31271879 DOI: 10.1016/j.mito.2019.06.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
31 Gilberti M, Baruffini E, Donnini C, Dallabona C. Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex. PLoS One 2018;13:e0205014. [PMID: 30273399 DOI: 10.1371/journal.pone.0205014] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
32 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]
33 Martorano L, Peron M, Laquatra C, Lidron E, Facchinello N, Meneghetti G, Tiso N, Rasola A, Ghezzi D, Argenton F. The zebrafish orthologue of the human hepatocerebral disease gene MPV17 plays pleiotropic roles in mitochondria. Dis Model Mech 2019;12:dmm037226. [PMID: 30833296 DOI: 10.1242/dmm.037226] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 3.7] [Reference Citation Analysis]
34 Luigetti M, Sauchelli D, Primiano G, Cuccagna C, Bernardo D, Lo Monaco M, Servidei S. Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience. Eur J Neurol 2016;23:1020-7. [DOI: 10.1111/ene.12954] [Cited by in Crossref: 24] [Cited by in F6Publishing: 20] [Article Influence: 4.0] [Reference Citation Analysis]
35 Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À. Neuromuscular Manifestations in Mitochondrial Diseases in Children. Semin Pediatr Neurol 2016;23:290-305. [PMID: 28284391 DOI: 10.1016/j.spen.2016.11.004] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
36 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]
37 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]
38 Löllgen S, Weiher H. The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species. Biol Chem 2015;396:13-25. [PMID: 25205723 DOI: 10.1515/hsz-2014-0198] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 2.4] [Reference Citation Analysis]
39 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]
40 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]
41 Kaji S, Murayama K, Nagata I, Nagasaka H, Takayanagi M, Ohtake A, Iwasa H, Nishiyama M, Okazaki Y, Harashima H, Eitoku T, Yamamoto M, Matsushita H, Kitamoto K, Sakata S, Katayama T, Sugimoto S, Fujimoto Y, Murakami J, Kanzaki S, Shiraki K. Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II. Molecular Genetics and Metabolism 2009;97:292-6. [DOI: 10.1016/j.ymgme.2009.04.014] [Cited by in Crossref: 33] [Cited by in F6Publishing: 28] [Article Influence: 2.5] [Reference Citation Analysis]
42 Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol 2015;15:179. [PMID: 26437932 DOI: 10.1186/s12883-015-0430-1] [Cited by in Crossref: 13] [Cited by in F6Publishing: 10] [Article Influence: 1.9] [Reference Citation Analysis]
43 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]
44 Luna-Sanchez M, Benincá C, Cerutti R, Brea-Calvo G, Yeates A, Scorrano L, Zeviani M, Viscomi C. Opa1 Overexpression Protects from Early-Onset Mpv17-/--Related Mouse Kidney Disease. Mol Ther 2020;28:1918-30. [PMID: 32562616 DOI: 10.1016/j.ymthe.2020.06.010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
45 Erickson RP. Autosomal recessive diseases among the Athabaskans of the southwestern United States: recent advances and implications for the future. Am J Med Genet A 2009;149A:2602-11. [PMID: 19842189 DOI: 10.1002/ajmg.a.33052] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 0.8] [Reference Citation Analysis]
46 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]
47 Sarkhy AA, Al-Sunaid A, Abdullah A, AlFadhel M, Eiyad W. A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure. Ann Saudi Med 2014;34:175-8. [PMID: 24894789 DOI: 10.5144/0256-4947.2014.175] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
48 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]
49 Merkle AN, Nascene DR, McKinney AM. MR imaging findings in the reticular formation in siblings with MPV17-related mitochondrial depletion syndrome. AJNR Am J Neuroradiol 2012;33:E34-5. [PMID: 21511859 DOI: 10.3174/ajnr.A2455] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
50 Erickson RP, Bodensteiner JB. Oro-facial-digital syndrome IX with severe microcephaly: a new variant in a genetically isolated population. Am J Med Genet A 2007;143A:3309-13. [PMID: 18000902 DOI: 10.1002/ajmg.a.31976] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
51 Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. Journal of Hepatology 2009;50:215-21. [DOI: 10.1016/j.jhep.2008.08.019] [Cited by in Crossref: 35] [Cited by in F6Publishing: 32] [Article Influence: 2.7] [Reference Citation Analysis]
52 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]
53 Harati Y, Bosch EP. Disorders of Peripheral Nerves. Neurology in Clinical Practice. Elsevier; 2008. pp. 2249-355. [DOI: 10.1016/b978-0-7506-7525-3.50118-7] [Cited by in Crossref: 4] [Article Influence: 0.3] [Reference Citation Analysis]
54 Quaglia A, Roberts EA, Torbenson M. Developmental and Inherited Liver Disease. Macsween's Pathology of the Liver. Elsevier; 2018. pp. 111-274. [DOI: 10.1016/b978-0-7020-6697-9.00003-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
55 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]
56 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]
57 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]
58 Bian WP, Pu SY, Xie SL, Wang C, Deng S, Strauss PR, Pei DS. Loss of mpv17 affected early embryonic development via mitochondria dysfunction in zebrafish. Cell Death Discov 2021;7:250. [PMID: 34537814 DOI: 10.1038/s41420-021-00630-w] [Reference Citation Analysis]
59 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]
60 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]
61 Meyer zum Gottesberge AM, Massing T, Hansen S. Missing mitochondrial Mpv17 gene function induces tissue-specific cell-death pathway in the degenerating inner ear. Cell Tissue Res 2012;347:343-56. [PMID: 22322422 DOI: 10.1007/s00441-012-1326-7] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 1.4] [Reference Citation Analysis]
62 Gilea AI, Ceccatelli Berti C, Magistrati M, di Punzio G, Goffrini P, Baruffini E, Dallabona C. Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability. Genes (Basel) 2021;12:1866. [PMID: 34946817 DOI: 10.3390/genes12121866] [Reference Citation Analysis]
63 Weiher H, Pircher H, Jansen-Dürr P, Hegenbarth S, Knolle P, Grunau S, Vapola M, Hiltunen JK, Zwacka RM, Schmelzer E, Reumann K, Will H. A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells. BMC Res Notes 2016;9:128. [PMID: 26921094 DOI: 10.1186/s13104-016-1939-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
64 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]
65 Cheng L, Jain D, Kakar S, Torbenson MS, Wu TT, Yeh MM. Hepatocellular neoplasms arising in genetic metabolic disorders: steatosis is common in both the tumor and background liver. Hum Pathol 2021;108:93-9. [PMID: 33245984 DOI: 10.1016/j.humpath.2020.11.012] [Reference Citation Analysis]
66 Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain 2014;137:3200-12. [PMID: 25281868 DOI: 10.1093/brain/awu279] [Cited by in Crossref: 35] [Cited by in F6Publishing: 26] [Article Influence: 4.4] [Reference Citation Analysis]
67 . Bibliography. Current world literature. Neuro-muscular diseases: nerve. Curr Opin Neurol 2007;20:600-4. [PMID: 17885452 DOI: 10.1097/WCO.0b013e3282efeb3b] [Reference Citation Analysis]
68 Rahman S. Mitochondrial disease in children. J Intern Med 2020;287:609-33. [PMID: 32176382 DOI: 10.1111/joim.13054] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
69 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]
70 Scheibye-Knudsen M, Croteau DL, Bohr VA. Mitochondrial deficiency in Cockayne syndrome. Mech Ageing Dev 2013;134:275-83. [PMID: 23435289 DOI: 10.1016/j.mad.2013.02.007] [Cited by in Crossref: 45] [Cited by in F6Publishing: 39] [Article Influence: 5.0] [Reference Citation Analysis]
71 Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet 2011;88:402-21. [PMID: 21473982 DOI: 10.1016/j.ajhg.2011.03.005] [Cited by in Crossref: 34] [Cited by in F6Publishing: 27] [Article Influence: 3.1] [Reference Citation Analysis]
72 Zeviani M, Carelli V. Mitochondrial disorders. Curr Opin Neurol 2007;20:564-71. [PMID: 17885446 DOI: 10.1097/WCO.0b013e3282ef58cd] [Cited by in Crossref: 97] [Cited by in F6Publishing: 39] [Article Influence: 6.5] [Reference Citation Analysis]
73 Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol 2012;69:1648-51. [PMID: 22964873 DOI: 10.1001/archneurol.2012.405] [Cited by in Crossref: 53] [Cited by in F6Publishing: 43] [Article Influence: 5.9] [Reference Citation Analysis]
74 Uziel G, Ghezzi D, Zeviani M. Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med. 2011;16:205-215. [PMID: 21620787 DOI: 10.1016/j.siny.2011.04.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 18] [Article Influence: 2.2] [Reference Citation Analysis]
75 Erez A, Shchelochkov OA, Plon SE, Scaglia F, Lee B. Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism. Am J Hum Genet. 2011;88:402-421. [PMID: 21473982 DOI: 10.1016/j.ajhg.2011.03.005.] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
76 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]
77 Katirji B, Koontz D. Disorders of Peripheral Nerves. Neurology in Clinical Practice. Elsevier; 2012. pp. 1915-2015. [DOI: 10.1016/b978-1-4377-0434-1.00101-8] [Cited by in Crossref: 9] [Article Influence: 0.9] [Reference Citation Analysis]
78 El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat 2018;39:461-70. [PMID: 29282788 DOI: 10.1002/humu.23387] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 5.0] [Reference Citation Analysis]
79 Baumann M, Schreiber H, Schlotter‐weigel B, Löscher WN, Stucka R, Karall D, Strom TM, Bauer P, Krabichler B, Fauth C, Glaeser D, Senderek J. MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy. Clin Genet 2018;95:182-6. [DOI: 10.1111/cge.13462] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
80 Brockhage R, Slone J, Ma Z, Hegde MR, Valencia CA, Huang T. Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing. J Genet Genomics 2018:S1673-8527(18)30098-5. [PMID: 29910094 DOI: 10.1016/j.jgg.2018.06.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
81 Bruhn H, Samuelsson K, Schober FA, Engvall M, Lesko N, Wibom R, Nennesmo I, Calvo-Garrido J, Press R, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy. Neurol Genet 2021;7:e566. [PMID: 33732874 DOI: 10.1212/NXG.0000000000000566] [Reference Citation Analysis]
82 Meldau S, De Lacy R, Riordan G, Goddard E, Pillay K, Fieggen K, Marais A, Van der Watt G. Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy. Clin Genet 2018;93:1093-6. [DOI: 10.1111/cge.13208] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
83 Lötsch J, Lippmann C, Kringel D, Ultsch A. Integrated Computational Analysis of Genes Associated with Human Hereditary Insensitivity to Pain. A Drug Repurposing Perspective. Front Mol Neurosci 2017;10:252. [PMID: 28848388 DOI: 10.3389/fnmol.2017.00252] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 1.6] [Reference Citation Analysis]
84 Pareyson D, Piscosquito G, Moroni I, Salsano E, Zeviani M. Peripheral neuropathy in mitochondrial disorders. Lancet Neurol 2013;12:1011-24. [PMID: 24050734 DOI: 10.1016/S1474-4422(13)70158-3] [Cited by in Crossref: 59] [Cited by in F6Publishing: 22] [Article Influence: 6.6] [Reference Citation Analysis]
85 Cassereau J, Codron P, Funalot B. Inherited peripheral neuropathies due to mitochondrial disorders. Revue Neurologique 2014;170:366-74. [DOI: 10.1016/j.neurol.2013.11.005] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 1.9] [Reference Citation Analysis]
86 Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. J Clin Invest 2020;130:108-25. [PMID: 31550240 DOI: 10.1172/JCI128514] [Cited by in Crossref: 28] [Cited by in F6Publishing: 21] [Article Influence: 14.0] [Reference Citation Analysis]
87 Mendelsohn BA, Mehta N, Hameed B, Pekmezci M, Packman S, Ralph J. Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation. JIMD Rep 2014;13:37-41. [PMID: 24190800 DOI: 10.1007/8904_2013_267] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 1.0] [Reference Citation Analysis]
88 Begay RL, Garrison NA, Sage F, Bauer M, Knoki-Wilson U, Begay DH, Becenti-Pigman B, Claw KG. Weaving the Strands of Life (Iiná Bitł'ool): History of Genetic Research Involving Navajo People. Hum Biol 2020;91:189-208. [PMID: 32549035 DOI: 10.13110/humanbiology.91.3.04] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
89 Shimura M, Kuranobu N, Ogawa-Tominaga M, Akiyama N, Sugiyama Y, Ebihara T, Fushimi T, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Umetsu S, Inui A, Fujisawa T, Tanikawa K, Ito R, Fukuda A, Murakami J, Kaji S, Kasahara M, Shiraki K, Ohtake A, Okazaki Y, Murayama K. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. Orphanet J Rare Dis. 2020;15:169. [PMID: 32703289 DOI: 10.1186/s13023-020-01441-5] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
90 Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE. Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. JIMD Rep 2014;14:29-35. [PMID: 24272679 DOI: 10.1007/8904_2013_280] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
91 Laurá M, Pipis M, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease and related disorders: an evolving landscape. Curr Opin Neurol 2019;32:641-50. [PMID: 31343428 DOI: 10.1097/WCO.0000000000000735] [Cited by in Crossref: 38] [Cited by in F6Publishing: 18] [Article Influence: 19.0] [Reference Citation Analysis]
92 Viscomi C, Bottani E, Zeviani M. Emerging concepts in the therapy of mitochondrial disease. Biochim Biophys Acta 2015;1847:544-57. [PMID: 25766847 DOI: 10.1016/j.bbabio.2015.03.001] [Cited by in Crossref: 75] [Cited by in F6Publishing: 65] [Article Influence: 10.7] [Reference Citation Analysis]
93 Visser WF, van Roermund CW, Ijlst L, Waterham HR, Wanders RJ. Metabolite transport across the peroxisomal membrane. Biochem J 2007;401:365-75. [PMID: 17173541 DOI: 10.1042/BJ20061352] [Cited by in Crossref: 107] [Cited by in F6Publishing: 51] [Article Influence: 7.1] [Reference Citation Analysis]
94 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]
95 Lewis J, Gonzales M, Burnette C, Benally M, Seanez P, Shuey C, Nez H, Nez C, Nez S. Environmental exposures to metals in Native communities and implications for child development: basis for the Navajo birth cohort study. J Soc Work Disabil Rehabil 2015;14:245-69. [PMID: 26151586 DOI: 10.1080/1536710X.2015.1068261] [Cited by in Crossref: 17] [Cited by in F6Publishing: 11] [Article Influence: 2.4] [Reference Citation Analysis]
96 Qualls C, Kornfeld M, Joste N, Ali AM, Appenzeller O. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited. eNeurologicalSci 2016;2:8-13. [PMID: 29473055 DOI: 10.1016/j.ensci.2016.01.004] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
97 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]
98 Kwong S, Meyerson C, Zheng W, Kassardjian A, Stanzione N, Zhang K, Wang HL. Acute hepatitis and acute liver failure: Pathologic diagnosis and differential diagnosis. Semin Diagn Pathol 2019;36:404-14. [PMID: 31405537 DOI: 10.1053/j.semdp.2019.07.005] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
99 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]