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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Veröffentlicht in:	Human molecular genetics Jg. 27; H. 11; S. 1999
Hauptverfasser:	Zhang, Juanjuan, Ji, Yanchun, Lu, Yuanyuan, Fu, Runing, Xu, Man, Liu, Xiaoling, Guan, Min-Xin
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 01.06.2018
Schlagworte:	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-Zugang:	Weitere Angaben
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