Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA and 38 nuclear-encoded subunits that are assembled together in a process that is only partially underst...

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Autors principals: Sugiana, Canny, Pagliarini, David J., McKenzie, Matthew, Kirby, Denise M., Salemi, Renato, Abu-Amero, Khaled K., Dahl, Hans-Henrik M., Hutchison, Wendy M., Vascotto, Katherine A., Smith, Stacey M., Newbold, Robert F., Christodoulou, John, Calvo, Sarah, Mootha, Vamsi K., Ryan, Michael T., Thorburn, David R.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2008
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2561934/
https://ncbi.nlm.nih.gov/pubmed/18940309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.09.009
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