The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited disorder of mitochondrial fatty acid oxidation associated with variations in the ACADS gene and variable clinical symptoms. In addition to rare ACADS inactivating variations, two common variations, c.511C > T (p.Arg171Trp) and c...

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Veröffentlicht in:	Human genetics 2008-08, Vol.124 (1), p.43-56
Hauptverfasser:	Pedersen, Christina B., Kølvraa, Steen, Kølvraa, Agnete, Stenbroen, Vibeke, Kjeldsen, Margrethe, Ensenauer, Regina, Tein, Ingrid, Matern, Dietrich, Rinaldo, Piero, Vianey-Saban, Christine, Ribes, Antonia, Lehnert, Willy, Christensen, Ernst, Corydon, Thomas J., Andresen, Brage S., Vang, Søren, Bolund, Lars, Vockley, Jerry, Bross, Peter, Gregersen, Niels
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Animals Biological and medical sciences Biomedical and Life Sciences Biomedicine Butyryl-CoA Dehydrogenase - chemistry Butyryl-CoA Dehydrogenase - genetics Butyryl-CoA Dehydrogenase - metabolism Butyryl-CoA Dehydrogenase - physiology Cardiology. Vascular system Classical genetics, quantitative genetics, hybrids Codon Coronary heart disease Dehydrogenases Dimerization Enzyme Activation - genetics Enzymes Fatty acids Fundamental and applied biological sciences. Psychology Gene Frequency Gene Function Genes Genetic aspects Genetics Genetics of eukaryotes. Biological and molecular evolution Heart Hospitals Human Human Genetics Humans Malonates - metabolism Malonates - urine Medical colleges Medical sciences Medical screening Medicine Metabolic Diseases Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - urine Mice Mice, Inbred BALB C Mice, Knockout Models, Molecular Molecular Medicine Mutation, Missense - physiology Original Investigation Oxidation Pediatrics Physiological aspects Polymorphism, Single Nucleotide Protein Binding Protein Folding Proteins Structure-Activity Relationship
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