COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2
DA Stroud, MJ Maher, C Lindau… - Human molecular …, 2015 - academic.oup.com
Biogenesis of complex IV of the mitochondrial respiratory chain requires assembly factors for
subunit maturation, co-factor attachment and stabilization of intermediate assemblies. A …
subunit maturation, co-factor attachment and stabilization of intermediate assemblies. A …
Assembly of nuclear DNA‐encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria
Complex IV is the terminal enzyme of the mitochondrial respiratory chain. In humans,
biogenesis of complex IV involves the coordinated assembly of 13 subunits encoded by both …
biogenesis of complex IV involves the coordinated assembly of 13 subunits encoded by both …
Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis
A Ghosh, AT Pratt, S Soma, SG Theriault… - Human molecular …, 2016 - academic.oup.com
Biogenesis of cytochrome c oxidase (CcO), the terminal enzyme of the mitochondrial
respiratory chain, is a complex process facilitated by several assembly factors. Pathogenic …
respiratory chain, is a complex process facilitated by several assembly factors. Pathogenic …
Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module
M Bourens, A Barrientos - Journal of Biological Chemistry, 2017 - ASBMB
Defects in mitochondrial cytochrome c oxidase or respiratory chain complex IV (CIV)
assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in …
assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in …
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia
R Szklarczyk, BFJ Wanschers… - Human molecular …, 2013 - academic.oup.com
The mitochondrial respiratory chain complex IV (cytochrome c oxidase) is a multi-subunit
enzyme that transfers electrons from cytochrome c to molecular oxygen, yielding water. Its …
enzyme that transfers electrons from cytochrome c to molecular oxygen, yielding water. Its …
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease
CJR Dunning, M McKenzie, C Sugiana… - The EMBO …, 2007 - embopress.org
In humans, complex I of the respiratory chain is composed of seven mitochondrial DNA
(mtDNA)‐encoded and 38 nuclear‐encoded subunits that assemble together in a process …
(mtDNA)‐encoded and 38 nuclear‐encoded subunits that assemble together in a process …
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive
F Baertling, F Al‐Murshedi… - Human …, 2017 - Wiley Online Library
COX5A is a nuclear‐encoded subunit of mitochondrial respiratory chain complex IV
(cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the …
(cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the …
Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency
A Ghosh, PP Trivedi, SA Timbalia… - Human molecular …, 2014 - academic.oup.com
Mitochondrial respiratory chain biogenesis is orchestrated by hundreds of assembly factors,
many of which are yet to be discovered. Using an integrative approach based on clues from …
many of which are yet to be discovered. Using an integrative approach based on clues from …
COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux
SCO1 and SCO2 are metallochaperones whose principal function is to add two copper ions
to the catalytic core of cytochrome c oxidase (COX). However, affected tissues of SCO1 and …
to the catalytic core of cytochrome c oxidase (COX). However, affected tissues of SCO1 and …
Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly
LE Formosa, S Maghool, AJ Sharpe… - Proceedings of the …, 2022 - National Acad Sciences
Cytochrome c oxidase (COX) assembly factor 7 (COA7) is a metazoan-specific assembly
factor, critical for the biogenesis of mitochondrial complex IV (cytochrome c oxidase) …
factor, critical for the biogenesis of mitochondrial complex IV (cytochrome c oxidase) …