EC Number |
Application |
Reference |
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1.3.8.6 | medicine |
altered expression levels in colorectal cancer, which is mainly associated with fatty acid metabolic pathways, speculated to have an important role linked to carcinogenesis |
672889 |
1.3.8.6 | medicine |
glutaric acid, 3-hydroxyglutric acid, and glutarylcarnithine accumulate in patients with GCDH deficiency |
689338 |
1.3.8.6 | medicine |
glutaryl-CoA dehydrogenase deficiency (glutaric acidaemia or aciduria type I) is an autosomal recessive disease which is characterized by an accumulation of glutaric acid, 3-hydroxyglutaric acid, glutaconic acid (less frequently), and glutarylcarnitine in body fluids and tissues |
688177 |
1.3.8.6 | medicine |
glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type 1, GA1) is a disorder of lysine and tryptophan degradation that results in accumulation of glutaric acid and 3-hydroxyglutaric acid in the brain and other tissues |
685869 |
1.3.8.6 | medicine |
glutaryl-CoA dehydrogenase deficiency is an autosomal recessive disease characterized by the accumulation of glutaric and 3-hydroxyglutaric acids in tissues and body fluids causing uncompetitive inhibition of alpha-ketoglutarate dehydrogenase complex |
688179 |
1.3.8.6 | medicine |
glutaryl-CoA dehydrogenase deficiency leads to strong glutaric acid and 3-hydroxyglutaric acid accumulation in the central nervous system |
689336 |
1.3.8.6 | medicine |
studies of 18 missense mutations identified in glutaric aciduria type 1 patients affecting surface amino acids. The stability of half of the GCDH mutants is significantly reduced. None of the mutations impairs the 3D structure of GCDH. All GCDH mutants are correctly translocated into mitochondria |
742629 |
1.3.8.6 | pharmacology |
targeted suppression of GCDH by lentivirus-mediated shRNA and excessive intake of lysine may be a useful cell model of glutaric aciduria type 1, overview |
-, 726334 |