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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Vydané v:	Human molecular genetics Ročník 27; číslo 11; s. 1999
Hlavní autori:	Zhang, Juanjuan, Ji, Yanchun, Lu, Yuanyuan, Fu, Runing, Xu, Man, Liu, Xiaoling, Guan, Min-Xin
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 01.06.2018
Predmet:	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
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