Mariël A.M. van den Brand

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

Rutger O. Vogel, Rolf J. R. J. Janssen, Mariël A.M. van den Brand et al. · Genes & Development · 2007 · 197 citations · Full text

Life Sciences, Biology, Molecular Biology +16

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

Elena J. Tucker, Bas F.J. Wanschers, Radek Szklarczyk et al. · PLoS Genetics · 2013 · 118 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

An I. Jonckheere, Marije Hogeveen, Leo Nijtmans et al. · Journal of Medical Genetics · 2007 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Radek Szklarczyk, Bas F.J. Wanschers, Leo Nijtmans et al. · Human Molecular Genetics · 2012 · 92 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Fabian Baertling, Mariël A.M. van den Brand, Jozef Hertecant et al. · Human Mutation · 2014 · 82 citations

Life Sciences, Biochemistry, Genetics +15