SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma - Hao, Huai-Xiang; Khalimonchuk, Oleh; Schraders, Margit; Dephoure, Noah; Bayley, Jean-Pierre; Kunst, Henricus; Devilee, Peter; Cremers, Cor W.R.J; Schiffman, Joshua D; Bentz, Brandon G; Gygi, Steven P; Winge, Dennis R; et al. (Science (American Association for the Advancement of Science), 2009)
Keywords: Adenine; Amino Acid Sequence; Antibodies; Biological and medical sciences; Cell Line; Cell Line, Tumor; chromosomes; Dehydrogenases; electron transport chain; Female; flavin-adenine dinucleotide; Flavin-Adenine Dinucleotide - metabolism; Flavoproteins - metabolism; Fluorescence; Genes; Genetic mutation; germ cells; Germ-Line Mutation; Haplotypes; human diseases; Humans; Inheritance Patterns; loss-of-function mutation; Male; Medical sciences; Mitochondria; Mitochondria - metabolism; Mitochondrial Proteins - chemistry; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Molecular Sequence Data; Nervous system diseases; Neurology; Oxygen Consumption; Paraganglioma - genetics; Pedigree; Plasmids; protein subunits; Protein Subunits - metabolism; proteins; Proteomics; Saccharomyces cerevisiae - genetics; Saccharomyces cerevisiae - growth & development; Saccharomyces cerevisiae - metabolism; Saccharomyces cerevisiae Proteins - chemistry; Saccharomyces cerevisiae Proteins - genetics; Saccharomyces cerevisiae Proteins - metabolism; succinate dehydrogenase (quinone); Succinate Dehydrogenase - metabolism; tricarboxylic acid cycle; Tumors; Tumors of the nervous system. Phacomatoses; Yeasts; Human; Nervous system diseases; Mitochondria; Succinate dehydrogenase; Cell organelle; Enzyme; Diseases of the autonomic nervous system; FAD; Paraganglioma; Tumor; Oxidoreductases; Cofactor