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