Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy

Mutations in mitochondrial DNA (mtDNA) have been associated with Leber's hereditary optic neuropathy (LHON) and their pathophysiology remains poorly understood. In this study, we demonstrated that a missense mutation (m.12338T>C, p.1M>T) in the ND5 gene contributed to the pathogenesis of...

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Bibliographic Details

Published in:	Human molecular genetics Vol. 27; no. 11; p. 1999
Main Authors:	Zhang, Juanjuan, Ji, Yanchun, Lu, Yuanyuan, Fu, Runing, Xu, Man, Liu, Xiaoling, Guan, Min-Xin
Format:	Journal Article
Language:	English
Published:	England 01.06.2018
Subjects:	Apoptosis - genetics DNA, Mitochondrial - genetics Electron Transport Complex I - genetics Humans Hybrid Cells Mitochondrial Proteins - genetics Mitophagy - genetics Mutation, Missense - genetics Optic Atrophy, Hereditary, Leber - genetics Optic Atrophy, Hereditary, Leber - metabolism Optic Atrophy, Hereditary, Leber - pathology Structure-Activity Relationship
ISSN:	1460-2083, 1460-2083
Online Access:	Get more information
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