Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

Leber's hereditary optic neuropathy (LHON) is a maternal inheritance of eye disease because of the mitochondrial DNA (mtDNA) mutations. We previously discovered a 3866T>C mutation within the gene for the ND1 subunit of complex I as possibly amplifying disease progression for patients bearing...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Ji, Yanchun, Zhang, Juanjuan, Lu, Yuanyuan, Yi, Qiuzi, Chen, Mengquan, Xie, Shipeng, Mao, Xiaoting, Xiao, Yun, Meng, Feilong, Zhang, Minglian, Yang, Rulai, Guan, Min-Xin
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2020
Assuntos:
Bioenergetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7504918/
https://ncbi.nlm.nih.gov/pubmed/32723871
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA120.014603
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