NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Mitochondrial respiratory chain complex I consists of 44 different subunits and can be subgrouped into three functional modules: the Q-, the P- and the N-module. NDUFAF4 (C6ORF66) is an assembly factor of complex I that associates with assembly intermediates of the Q-module. Via exome sequencing, we...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643967/
https://ncbi.nlm.nih.gov/pubmed/28853723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.133
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