UDP-N-acetylglucosamine2-epimeraseN-acetylmannosaminekinase 系统标签: kinasedmrvudpgnemyonucleirimmed Background:UDP-N-acetylglucosamine2- epimerase/N-acetylmannosaminekinase(GNE)isa keymoleculeinthepathogenesisofdistalmyopa- thywithrimmedvacuoles(DMRV)andhereditary inclusionbodymyopathy(HIBM)andalmostall ...
英文别名: UDP-N-acetylglucosamine 2-epimerase (non-hydrolysing)中文名: 中文别名: CBNumber: CB87251935 分子式: 分子量: 0 MOL File: Mol file 化学性质 安全信息 用途 供应商 2 UDP-N-acetylglucosamine 2-epimerase (non-hydrolysing)化学性质
BACKGROUND: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) is a key molecule in the pathogenesis of distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM) and almost all such patients have some mutations in GNE. However, subcellular local...
Early invasive growth and metastasis are features of pancreatic cancer that rely on its resistance to anoikis, an apoptosis program activated on loss of matrix anchorage. How anoikis is regulated is unclear. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine-kinase (GNE) was silenced, or p1...
Overproduction of NeuAc is believed to result from loss of feedback inhibition of uridinediphosphate-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase) by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac). We report the cloning and characterization of human UDP-GlcNAc 2-epimerase ...
Currently, more than 60 different mutations spread over the whole gene are known [2], [3]. The UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme of sialic acid biosynthesis [4]. Sialic acids (Sia) represent a family of amino sugars with over 50 ...
Biosynthesis of Neu5Ac is initiated and regulated by its key enzyme, UDP-N-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epimerase, EC 5.1. 3.14)/N-... R Stasche,S Hinderlich,C Weise,... - 《Journal of Biological Chemistry》 被引量: 560发表: 1997年 Purification and characterization of N...
GNE, NT (GNE, GLCNE, Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, UDP-GlcNAc-2-epimerase/ManAc kinase, UDP-N-acetylglucosamine 2-epimerase, UDP-GlcNAc-2-epimerase, Uridine diphosphate-N-acetylglucosamine-2-epimerase, N-acet ...
Only a Gne cDNA encoding UDP-GlcNAc 2-epimerase:ManNAc kinase rescued PSA synthesis. In an in vitro UDP-GlcNAc 2-epimerase assay, Lec3 cells had no detectable UDP-GlcNAc 2-epimerase activity, and Lec3 cells grown in serum-free medium were essentially devoid of sialic acid on glycoproteins....
Hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are both caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Here we report a Japanese patient with compound heterozygous missense mutations in the epimerase domain of GNE g...