Article
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
PLoS genetics - 1 Jan 2013
Tucker Elena J, Wanschers Bas F J, Szklarczyk Radek, Mountford Hayley S, Wijeyeratne Xiaonan W, van den Brand Mariël A M, Leenders Anne M, Rodenburg Richard J, Reljić Boris, Compton Alison G, Frazier Ann E, Bruno Damien L, Christodoulou John, Endo Hitoshi, Ryan Michael T, Nijtmans Leo G, Huynen Martijn A, Thorburn David R
Abstract excerpt
Mitochondrial oxidative phosphorylation (OXPHOS) is responsible for generating the majority of cellular ATP. Complex III (ubiquinol-cytochrome c oxidoreductase) is the third of five OXPHOS complexes. Complex III assembly relies on the coordinated expression of the mitochondrial and nuclear genomes, with 10 subunits encoded by nuclear DNA and one by mitochondrial DNA (mtDNA). Complex III deficiency is a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.