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Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.
Flønes IH, Fernandez-Vizarra E, Lykouri M, Brakedal B, Skeie GO, Miletic H, Lilleng PK, Alves G, Tysnes OB, Haugarvoll K, Dölle C, Zeviani M, Tzoulis C. Flønes IH, et al. Among authors: zeviani m. Acta Neuropathol. 2018 Mar;135(3):409-425. doi: 10.1007/s00401-017-1794-7. Epub 2017 Dec 21. Acta Neuropathol. 2018. PMID: 29270838
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, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. Spinazzola A, et al. Among authors: zeviani m. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Among authors: zeviani m. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.
469 results