Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly

…, RJRJ Janssen, MAM Van Den Brand… - Genes & …, 2007 - genesdev.cshlp.org
Ecsit is a cytosolic adaptor protein essential for inflammatory response and embryonic
development via the Toll-like and BMP (bone morphogenetic protein) signal transduction …

[PDF][PDF] Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

J Nouws, L Nijtmans, SM Houten, M van den Brand… - Cell metabolism, 2010 - cell.com
Acyl-CoA dehydrogenase 9 (ACAD9) is a recently identified member of the acyl-CoA
dehydrogenase family. It closely resembles very long-chain acyl-CoA dehydrogenase (VLCAD), …

[PDF][PDF] Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

…, RO Vogel, SJ Hoefs, MA van den Brand… - The American Journal of …, 2009 - cell.com
Mitochondrial complex I deficiency is the most prevalent and least understood disorder of the
oxidative phosphorylation system. The genetic cause of many cases of isolated complex I …

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

…, XW Wijeyeratne, MAM van den Brand… - PLoS …, 2013 - journals.plos.org
Mitochondrial oxidative phosphorylation (OXPHOS) is responsible for generating the majority
of cellular ATP. Complex III (ubiquinol-cytochrome c oxidoreductase) is the third of five …

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

…, P Willems, M van den Brand… - Human molecular …, 2012 - academic.oup.com
Mitochondrial complex I (CI) is a multi-subunit enzyme that forms the major entry point of
nicotinamide adenine dinucleotide (NADH) electrons into the respiratory chain. Mutations in the …

[HTML][HTML] Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the …

…, JJ Esseling, M Riemersma, MAM van den Brand… - Genome biology, 2012 - Springer
Background Orthology is a central tenet of comparative genomics and ortholog identification
is instrumental to protein function prediction. Major advances have been made to determine …

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

…, N Dikow, MAM Van den Brand… - Human molecular …, 2013 - academic.oup.com
van den Heuvel, A mutation in the FAM36A gene, the human ortholog of COX20, impairs
cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia, Human …

[PDF][PDF] A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

…, R Szklarczyk, MJH Baars, MAM van den Brand… - The American Journal of …, 2011 - cell.com
The assembly of mitochondrial respiratory chain complex IV (cytochrome c oxidase) involves
the coordinated action of several assembly chaperones. In Saccharomyces cerevisiae, at …

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

…, R Szklarczyk, MAM van den Brand… - Human Molecular …, 2014 - academic.oup.com
Complex III (cytochrome bc 1 ) is a protein complex of the mitochondrial inner membrane
that transfers electrons from ubiquinol to cytochrome c. Its assembly requires the coordinated …

[PDF][PDF] Bi-allelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia, and multiple OXPHOS complex …

…, M van den Brand, S van Kraaij, E van Asbeck… - The American Journal of …, 2018 - cell.com
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk
of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded …