Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

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,...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873243/
https://ncbi.nlm.nih.gov/pubmed/24385928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1004034
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