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Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I

Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, int...

詳細記述

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書誌詳細
出版年:Proc Natl Acad Sci U S A
主要な著者: Formosa, Luke E., Reljic, Boris, Sharpe, Alice J., Hock, Daniella H., Muellner-Wong, Linden, Stroud, David A., Ryan, Michael T.
フォーマット: Artigo
言語:Inglês
出版事項: National Academy of Sciences 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8092609/
https://ncbi.nlm.nih.gov/pubmed/33879611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2019665118
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