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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Foilsithe in:J Med Genet
Main Authors: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Formáid: Artigo
Teanga:Inglês
Foilsithe: BMJ Publishing Group 2016
Ábhair:
Mitochondrial Genetics
Rochtain Ar Líne: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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