COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

BACKGROUND: Assembly of cytochrome c oxidase (COX, complex IV, cIV), the terminal component of the mitochondrial respiratory chain, is assisted by several factors, most of which are conserved from yeast to humans. However, some of them, including COA7, are found in humans but not in yeast. COA7 is a...

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Pubblicato in:J Med Genet
Autori principali: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2016
Soggetti:
Mitochondrial Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5264227/
https://ncbi.nlm.nih.gov/pubmed/27683825
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104194
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