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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Med Genet
Κύριοι συγγραφείς: Martinez Lyons, Anabel, Ardissone, Anna, Reyes, Aurelio, Robinson, Alan J, Moroni, Isabella, Ghezzi, Daniele, Fernandez-Vizarra, Erika, Zeviani, Massimo
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Publishing Group 2016
Θέματα:
Mitochondrial Genetics
Διαθέσιμο 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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