Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation - PubMed (original) (raw)

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.

Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.