Isabelle Valnot

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

Isabelle Valnot, Sandrine Osmond, Nadine Gigarel et al. · The American Journal of Human Genetics · 2000 · 353 citations · Full text

Hepatology, Mitochondrial Function, Biochemistry +11

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos et al. · Nature Genetics · 2001 · 313 citations

Liver Failure, Mitophagy, Protein Quality Control +8

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

Isabelle Valnot · Human Molecular Genetics · 2000 · 298 citations

Cytochrome c Oxidase Subassemblies in Fibroblast Cultures from Patients Carrying Mutations in COX10, SCO1, or SURF1

Siôn L. Williams, Isabelle Valnot, Pierre Rustin et al. · Journal of Biological Chemistry · 2004 · 129 citations · Full text

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

Isabelle Valnot, Johanna Kassis, Dominique Chrétien et al. · Human Genetics · 1999 · 100 citations

Mitochondrial Biogenesis, Mitochondrial Function, Biochemistry +7