Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions

Mitochondrial genome (mtDNA) mutation causes highly variable clinical features, and its pathogenesis is not fully understood. In this study, we analyzed the heteroplasmic mtDNA mutation C4936T (p.T156I) in ND2 of complex I and the homoplasmic mtDNA mutation A9181G (p.S219G) in ATPase 6 of complex V....

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Detalhes bibliográficos
Publicado no:FASEB J
Main Authors: Zhang, Chengkang, Huang, Vincent H., Simon, Mariella, Sharma, Lokendra K., Fan, Weiwei, Haas, Richard, Wallace, Douglas C., Bai, Yidong, Huang, Taosheng
Formato: Artigo
Idioma:Inglês
Publicado em: Federation of American Societies for Experimental Biology 2012
Assuntos:
Research Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6137447/
https://ncbi.nlm.nih.gov/pubmed/22925728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.12-206532
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