Audrey Boutron

A Mitochondrial Pyruvate Carrier Required for Pyruvate Uptake in Yeast, <i>Drosophila</i> , and Humans

Daniel K. Bricker, Eric B. Taylor, John C. Schell et al. · Science · 2012 · 863 citations · Full text

Genetics, Molecular Genetics, Mitochondrial Biology +17

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

Sandrine Haut, M. Brivet, Guy Touati et al. · Human Genetics · 2003 · 132 citations

Lactic Acidosis, Molecular Physiology, Complex Iii Deficiency +11

Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Yohan Sorèze, Audrey Boutron, Florence Habarou et al. · Orphanet Journal of Rare Diseases · 2013 · 100 citations · Full text

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack et al. · The American Journal of Human Genetics · 2017 · 89 citations · Full text

Biallelic Mutations, Mitochondrial Function, Genetic Disorder +7

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Apolline Imbard, Audrey Boutron, Christiane Vequaud et al. · Molecular Genetics and Metabolism · 2011 · 88 citations

Molecular Characterization, Aldo-keto Reductase, Aldehyde Dehydrogenase +8