| 1 | MDDS3, MPV17
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| Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
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| Dallabona C, Marsano RM, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I, Donnini C.
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| Hum Mol Genet 19(6):1098-107. Epub 2009 Dec 30.PMID: 20042463 2010
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| 2 | MDDS3, MPV17
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| MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
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| El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ.
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| Mol Genet Metab 99(3):300-8. Epub 2009 Oct 13.PMID: 20074988 2010
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| 3 | MDDS3, MPV17
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| Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
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| 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.
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| J Hepatol 50(1):215-21. Epub 2008 Oct 31.PMID: 19012992 2009
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| 4 | MPV17, MDDS3
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| Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
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| Navarro-Sastre A, Mart’n-Hern‡ndez E, Campos Y, Quintana E, Medina E, de Las Heras RS, Lluch M, Mu–oz A, del Hoyo P, Mart’n R, Gort L, Briones P, Ribes A.
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| Mol Genet Metab 94(2):234-9. Epub 2008 Mar 10. 2008
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| 5 | MDDS3, MPV17
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| Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
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| Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M.
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| Arch Neurol 65(8):1108-13.PMID: 18695062 [ 2008
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| 6 | POLG, MPV17, MDDS3
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| Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
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| Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rotig A.
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| J Pediatr 150(5):531-4, 534.e1-6. 2007
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| 7 | MDDS3, MPV17
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| Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
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| Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ.
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| Hepatology 46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.
2007
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| 8 | MPV17, MDDS3
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| MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
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| 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, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.
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| Nat Genet 38(5):570-5. Epub 2006 Apr 2. 2006
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| 9 | MDDS3, MPV17
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| Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
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| 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.
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| Am J Hum Genet 79(3):544-8. Epub 2006 Jun 28. 2006
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| 10 | UCN, MPV17
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| The structures of the mouse and human urocortin genes (Ucn and UCN).
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| Zhao L, et al.
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| Genomics 50 : 23-33. 1998
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| 11 | MPV17
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| The human homolog of the glomerulosclerosis gene Mpv 17 : structure and genomic organization.
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| Karasawa M, et al.
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| Hum Mol Genet 2 : 1829-1834. 1993
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