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Results 1 - 10 of 21 > >>
EC Number General Information Commentary Reference
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60evolution sequence comparion and modeling of human hGNE1 and mouse mGne1 isozymmess, overview -, 722375
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction all cases of hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are caused by mutations 705073
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction enzyme mutation affects beta1-integrin-mediated cell adhesion process 728341
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction enzyme mutations can cause sialuria and hereditary inclusion body myopathy. Sialuria patients have a heterozygous missense mutation affecting the allosteric site of GNE, leading to loss of feedback inhibition of GNE-epimerase activity by CMP-Neu5Ac, resulting in excessive sialic acid production. HIBM and its allelic Japanese disorder, distal myopathy with rimmed vacuoles, or DMRV, is an autosomal recessive neuromuscular disorder of adult onset, characterized byslowly progressive muscle weakness and atrophy 721653
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations, screening study of mutant individuals, genotypes of the GNE myopathy patient population and phenotypes, overview 723028
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction mutations cause sialurea or inclusion body myopathy/Nonaka myopathy 706438
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction non-allosteric GNE gene mutations cause the muscular disorder GNE myopathy, i.e. hereditary inclusion body myopathy. Complete Gne knockout is embryonically lethal. Transgenic mice expressing the human GNE cDNA with the D176V mutation, common among Japanese patients, in a mouse background with a disrupted mouse Gne gene recapitulates the adult onset features of human GNE myopathy with hyposialylation in serum and different organs. M712T mouse mutants die within 72 h of birth from severe glomerular disease. Mouse isozyme mutant phenotypes, overview -, 722375
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction silencing of GNE sensitizes pancreatic cancer cells to anoikis, an apoptosis program activated on loss of matrix anchorage. A loss of GNE enzyme activity in cells renders them anoikis-susceptible after transfection with the tumor suppressor p16. ManNAc incubation reduces anoikis susceptibility, phenotype, overview. Enzyme up-regulation occurs predominantly in pancreatic cancer but also in other malignancies 722220
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60malfunction stable knock-down of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in HEK-293 cells dramatically increases incorporation of N-acetylmannosamine analogues into glycoproteins of HEK-293 cells 716189
Show all pathways known for 2.7.1.60Display the word mapDisplay the reaction diagram Show all sequences 2.7.1.60metabolism GNE is the key enzyme of sialic acid biosynthesis 722220
Results 1 - 10 of 21 > >>