Pierre Rustin

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Nils‐Göran Larsson, Jianming Wang, Hans Wilhelmsson et al. · Nature Genetics · 1998 · 1.6K citations

Developmental Biology, Mitochondrial Biogenesis, Mitochondrial Function +9

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Agnès Rötig, Pascale de Lonlay, Dominique Chrétien et al. · Nature Genetics · 1997 · 987 citations

Mitochondrial Function, Biochemistry, Iron Metabolism +6

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Patrick J. Pollard, J.-J. Brière, Neyaz Alam et al. · Human Molecular Genetics · 2005 · 843 citations · Full text

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

Éric Letouzé, Cosimo Martinelli, Céline Loriot et al. · Cancer Cell · 2013 · 758 citations · Full text

Sdh Mutations Establish, Tumor Heterogeneity, Pathology +3

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio, Delphine Simon, Mireille Cossée et al. · Nature Genetics · 2001 · 729 citations

Intramitochondrial Iron Deposits, Sensory Nerve Defect, Iron Metabolism +9