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For: Spinazzola A, Viscomi C, Fernandez-vizarra E, Carrara F, D'adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, Dimauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5. [DOI: 10.1038/ng1765] [Cited by in Crossref: 302] [Cited by in F6Publishing: 280] [Article Influence: 18.9] [Reference Citation Analysis]
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12 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]
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15 Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genet 2016;12:e1005779. [PMID: 26760297 DOI: 10.1371/journal.pgen.1005779] [Cited by in Crossref: 44] [Cited by in F6Publishing: 38] [Article Influence: 7.3] [Reference Citation Analysis]
16 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]
17 Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders. Mol Genet Metab 2012;106:221-30. [PMID: 22494545 DOI: 10.1016/j.ymgme.2012.03.005] [Cited by in Crossref: 31] [Cited by in F6Publishing: 23] [Article Influence: 3.1] [Reference Citation Analysis]
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19 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]
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22 Iida R, Ueki M, Yasuda T. Identification of Rhit as a novel transcriptional repressor of human Mpv17-like protein with a mitigating effect on mitochondrial dysfunction, and its transcriptional regulation by FOXD3 and GABP. Free Radic Biol Med 2012;52:1413-22. [PMID: 22306510 DOI: 10.1016/j.freeradbiomed.2012.01.003] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
23 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]
24 Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet 2009;85:401-7. [PMID: 19732863 DOI: 10.1016/j.ajhg.2009.08.004] [Cited by in Crossref: 163] [Cited by in F6Publishing: 149] [Article Influence: 12.5] [Reference Citation Analysis]
25 Zhang J, Qi J, Shi F, Pan H, Liu M, Tian R, Geng Y, Li H, Qu Y, Chen J, Seim I, Li M. Insights into the Evolution of Neoteny from the Genome of the Asian Icefish Protosalanx chinensis. iScience 2020;23:101267. [PMID: 32593955 DOI: 10.1016/j.isci.2020.101267] [Reference Citation Analysis]
26 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]
27 Kuramoto T, Kuwamura M, Tokuda S, Izawa T, Nakane Y, Kitada K, Akao M, Guénet JL, Serikawa T. A mutation in the gene encoding mitochondrial Mg²+ channel MRS2 results in demyelination in the rat. PLoS Genet 2011;7:e1001262. [PMID: 21253565 DOI: 10.1371/journal.pgen.1001262] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 3.0] [Reference Citation Analysis]
28 Tigano M, Ruotolo R, Dallabona C, Fontanesi F, Barrientos A, Donnini C, Ottonello S. Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions. Nucleic Acids Res 2015;43:8368-80. [PMID: 26240381 DOI: 10.1093/nar/gkv765] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 2.6] [Reference Citation Analysis]
29 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]
30 Angireddy R, Kazmi HR, Srinivasan S, Sun L, Iqbal J, Fuchs SY, Guha M, Kijima T, Yuen T, Zaidi M, Avadhani NG. Cytochrome c oxidase dysfunction enhances phagocytic function and osteoclast formation in macrophages. FASEB J 2019;33:9167-81. [PMID: 31063702 DOI: 10.1096/fj.201900010RR] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
31 Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 2013;93:482-95. [PMID: 23993194 DOI: 10.1016/j.ajhg.2013.07.016] [Cited by in Crossref: 93] [Cited by in F6Publishing: 81] [Article Influence: 10.3] [Reference Citation Analysis]
32 Dalla Rosa I, Durigon R, Pearce SF, Rorbach J, Hirst EM, Vidoni S, Reyes A, Brea-Calvo G, Minczuk M, Woellhaf MW, Herrmann JM, Huynen MA, Holt IJ, Spinazzola A. MPV17L2 is required for ribosome assembly in mitochondria. Nucleic Acids Res 2014;42:8500-15. [PMID: 24948607 DOI: 10.1093/nar/gku513] [Cited by in Crossref: 46] [Cited by in F6Publishing: 43] [Article Influence: 5.8] [Reference Citation Analysis]
33 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]
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35 Piro RM, Di Cunto F. Computational approaches to disease-gene prediction: rationale, classification and successes. FEBS J 2012;279:678-96. [PMID: 22221742 DOI: 10.1111/j.1742-4658.2012.08471.x] [Cited by in Crossref: 102] [Cited by in F6Publishing: 74] [Article Influence: 10.2] [Reference Citation Analysis]
36 Akman HO, Dorado B, López LC, García-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K, Hirano M. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet 2008;17:2433-40. [PMID: 18467430 DOI: 10.1093/hmg/ddn143] [Cited by in Crossref: 79] [Cited by in F6Publishing: 73] [Article Influence: 5.6] [Reference Citation Analysis]
37 Paramasivam A, Meena AK, Pedaparthi L, Jyothi V, Uppin MS, Jabeen SA, Sundaram C, Thangaraj K. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2016;26:81-5. [PMID: 26689116 DOI: 10.1016/j.mito.2015.12.006] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
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40 deBruyn JC, Chan AK, Bhargava R, Idikio H, Huynh HQ. Liver Failure in Mitochondrial DNA Depletion Syndrome: The Importance of Serial Neuroimaging in Liver Transplantation Evaluation. Journal of Pediatric Gastroenterology & Nutrition 2007;45:252-6. [DOI: 10.1097/mpg.0b013e318048838f] [Cited by in Crossref: 11] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
41 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]
42 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]
43 Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013;45:214-9. [PMID: 23313956 DOI: 10.1038/ng.2501] [Cited by in Crossref: 144] [Cited by in F6Publishing: 125] [Article Influence: 16.0] [Reference Citation Analysis]
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46 Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI. Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. Hum Mol Genet 2009;18:2001-13. [PMID: 19289403 DOI: 10.1093/hmg/ddp124] [Cited by in Crossref: 42] [Cited by in F6Publishing: 38] [Article Influence: 3.2] [Reference Citation Analysis]
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50 Rodenburg RJ, Schoonderwoerd GC, Tiranti V, Taylor RW, Rötig A, Valente L, Invernizzi F, Chretien D, He L, Backx GP, Janssen KJ, Chinnery PF, Smeets HJ, de Coo IF, van den Heuvel LP. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion 2013;13:36-43. [PMID: 23164799 DOI: 10.1016/j.mito.2012.11.004] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 1.5] [Reference Citation Analysis]
51 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]
52 Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 2008;131:329-37. [PMID: 18065439 DOI: 10.1093/brain/awm272] [Cited by in Crossref: 285] [Cited by in F6Publishing: 244] [Article Influence: 19.0] [Reference Citation Analysis]
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