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Results 1 - 8 of 8
EC Number Application Commentary Reference
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine 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
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine glutaric acid, 3-hydroxyglutric acid, and glutarylcarnithine accumulate in patients with GCDH deficiency 689338
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine 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
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine 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
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine 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
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine glutaryl-CoA dehydrogenase deficiency leads to strong glutaric acid and 3-hydroxyglutaric acid accumulation in the central nervous system 689336
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6medicine 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
Show all pathways known for 1.3.8.6Display the word mapDisplay the reaction diagram Show all sequences 1.3.8.6pharmacology 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
Results 1 - 8 of 8