Saskia J.G. Hoefs

The ß-Glucuronidase Klotho Hydrolyzes and Activates the TRPV5 Channel

Saskia J.G. Hoefs, Annemiete W. van der Kemp, Catalin N. Topala et al. · Science · 2005 · 613 citations

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

Jessica Nouws, Leo Nijtmans, Sander M. Houten et al. · Cell Metabolism · 2010 · 191 citations

Biosynthesis, Cellular Enzymology, Biochemistry +9

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J.G. Hoefs et al. · The American Journal of Human Genetics · 2009 · 169 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetics +4

NDUFA2 Complex I Mutation Leads to Leigh Disease

Saskia J.G. Hoefs, Cindy E. Dieteren, Felix Distelmaier et al. · The American Journal of Human Genetics · 2008 · 132 citations · Full text

Disease Mechanism, Ndufa2 Complex, Genetic Disorder +5

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Saskia J.G. Hoefs, Francjan J. van Spronsen, Ellen W H Lenssen et al. · European Journal of Human Genetics · 2010 · 89 citations · Full text

Mendelian Disorder, Ndufa10 Mutations, Genetic Disorder +10