2.7.1.60	evolution	sequence comparion and modeling of human hGNE1 and mouse mGne1 isozymmess, overview	-, 722375	
2.7.1.60	malfunction	all cases of hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are caused by mutations	705073	
2.7.1.60	malfunction	enzyme mutation affects beta1-integrin-mediated cell adhesion process	728341	
2.7.1.60	malfunction	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	
2.7.1.60	malfunction	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	
2.7.1.60	malfunction	mutations cause sialurea or inclusion body myopathy/Nonaka myopathy	706438	
2.7.1.60	malfunction	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	
2.7.1.60	malfunction	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	
2.7.1.60	malfunction	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	
2.7.1.60	metabolism	GNE is the key enzyme of sialic acid biosynthesis	722220