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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Federation of American Societies for Experimental Biology 2012
Subjects:
Research Communications
Online Access: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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