PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 32087947-2 2020 We investigated the impact of reduced sialylation in the brain of mice heterozygous for the enzyme glucosamine-2-epimerase/N-acetylmannosamine kinase (GNE+/-) that is essential for sialic acid biosynthesis. N-Acetylneuraminic Acid 181-192 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 151-154 32439590-8 2020 Co-transfection experiment in vitro revealed Gm20319 and miR-7240-5p could indirectly regulate sialic acid level by directly modulating GNE expression, thereby also influencing the expression of SOD1 and IL-1beta. N-Acetylneuraminic Acid 95-106 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 136-139 32439590-9 2020 This study revealed Gm20319-miR-7240-5p-GNE network reduced sialic acid level to influence the expression of SOD1 and IL-1beta in liver, which might involve in liver damage induced by DON. N-Acetylneuraminic Acid 60-71 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 40-43 24349002-3 2013 The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyses the first two steps of Sia biosynthesis in the cytosol. N-Acetylneuraminic Acid 18-29 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 31073169-6 2019 Similarly, BM cells with a point mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene, encoding a key enzyme in sialic acid biosynthesis, showed mildly impaired homing and engraftment abilities. N-Acetylneuraminic Acid 143-154 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 49-111 28641925-5 2017 N-acetyl-D-mannosamine (ManNAc), an uncharged monosaccharide and the first committed precursor in the sialic acid biosynthetic pathway, is a therapeutic candidate that prevents muscle weakness in the mouse model of GNE myopathy. N-Acetylneuraminic Acid 102-113 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 215-218 25850639-1 2015 The key enzyme of sialic acid (Sia) biosynthesis is the bifunctional UDP-N-acetylglucosamine 2-epimerase/ManNAc kinase (GNE/MNK). N-Acetylneuraminic Acid 18-29 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 120-123 25850639-1 2015 The key enzyme of sialic acid (Sia) biosynthesis is the bifunctional UDP-N-acetylglucosamine 2-epimerase/ManNAc kinase (GNE/MNK). N-Acetylneuraminic Acid 31-34 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 120-123 25062695-2 2014 To elucidate whether GNE myopathy is treatable at a progressive stage of the disease, we examined the efficacy of sialic acid supplementation on symptomatic old GNE myopathy mice that have ongoing, active muscle degeneration. N-Acetylneuraminic Acid 114-125 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 161-164 25062695-3 2014 We examined the therapeutic effect of a less metabolized sialic acid compound (6"-sialyllactose) or free sialic acid (N-acetylneuraminic acid) by oral, continuous administration to 50-week-old GNE myopathy mice for 30 weeks. N-Acetylneuraminic Acid 57-68 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 193-196 28232658-2 2017 GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. N-Acetylneuraminic Acid 48-59 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 0-3 28232658-3 2017 The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. N-Acetylneuraminic Acid 12-23 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 83-86 28232658-4 2017 GNE myopathy model mouse was established and supplementation of sialic acid improves the phenotype of model mouse. N-Acetylneuraminic Acid 64-75 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 0-3 26329152-4 2015 Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase III study is currently underway. N-Acetylneuraminic Acid 20-31 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 91-94 20383336-2 2010 It is caused by a single missense mutation of each allele of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, a bifunctional enzyme catalyzing the first two steps of sialic acid synthesis in mammals. N-Acetylneuraminic Acid 196-207 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 129-132 23122659-10 2012 These preclinical data strongly support further evaluation of oral ManNAc, Neu5Ac and ManN as therapy for GNE myopathy and conceivably for certain glomerular diseases with hyposialylation. N-Acetylneuraminic Acid 75-81 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 106-109 22157763-1 2012 Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy (DMRV/hIBM), characterized by progressive muscle atrophy, weakness, and degeneration, is due to mutations in GNE, a gene encoding a bifunctional enzyme critical in sialic acid biosynthesis. N-Acetylneuraminic Acid 236-247 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 181-184 24129184-1 2013 The bi-functional enzyme UDP-N-acetyl-2-epimerase/N-acetylmannosamine kinase (GNE) is the key enzyme of the sialic acid biosynthesis. N-Acetylneuraminic Acid 108-119 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 78-81 23266873-1 2013 The bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis. N-Acetylneuraminic Acid 110-121 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 62-65 23122659-2 2012 The disorder results from biallelic mutations in GNE, encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid synthesis. N-Acetylneuraminic Acid 145-156 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 49-52 23122659-2 2012 The disorder results from biallelic mutations in GNE, encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enzyme of sialic acid synthesis. N-Acetylneuraminic Acid 145-156 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 63-125 22253810-0 2012 Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. N-Acetylneuraminic Acid 90-101 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 120-123 21731727-1 2011 UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamime kinase (GNE) is a bifunctional enzyme which catalyzes the two key sequential steps in the biosynthetic pathway of sialic acid, the most abundant terminal monosaccharide on glycoconjugates of eukaryotic cells. N-Acetylneuraminic Acid 170-181 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 64-67 20548120-2 2010 Sialic acid biosynthesis occurs in the cytosol, where UDP-N-acetylglucosamine (GlcNAc) is sequentially converted to N-acetylmannosamine (ManNAc) 6-phosphate by UDP-GlcNAc-2-epimerase/ManNAc kinase enzymes, both of which are encoded by the GNE gene. N-Acetylneuraminic Acid 0-11 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 239-242 20548120-3 2010 Since the only existing mouse model of DMRV/hIBM (Gne(-/-)hGNED176VTg) exhibited decreased sialic acid levels in most organs, DMRV/hIBM is thought to be secondary to the metabolic defect in sialic acid production. N-Acetylneuraminic Acid 91-102 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 50-53 20548120-9 2010 Thus our results show that the oral therapy with NeuAc and ManNAc or their derivatives is safe and effective in preventing myopathic symptoms in Gne(-/-)hGNED176VTg mice, and could be considered as a guide for further therapeutic trials. N-Acetylneuraminic Acid 49-54 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 145-148 19426133-5 2009 GNE knock-out in mice leads to embryonic lethality, emphasizing the crucial role of this key enzyme for sialic acid biosynthesis. N-Acetylneuraminic Acid 104-115 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 0-3 19797319-3 2010 The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyzes the first two steps of sialic acid biosynthesis in the cytosol. N-Acetylneuraminic Acid 18-29 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 19797319-3 2010 The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyzes the first two steps of sialic acid biosynthesis in the cytosol. N-Acetylneuraminic Acid 172-183 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 20030229-1 2009 Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disorder caused by homozygous or compound heterozygous missense mutations in GNE which encodes a protein with two enzymatic activities in sialic acid biosynthesis: UDP-GlcNAc 2-epimerase and ManNAc kinase. N-Acetylneuraminic Acid 257-268 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 196-199 17471014-3 2007 Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which encodes the rate-limiting enzyme in sialic acid biosynthesis, are causative of DMRV/hIBM. N-Acetylneuraminic Acid 134-145 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 81-84 19448634-4 2009 It is known that the disease gene underlying DMRV-hIBM is GNE, encoding glucosamine (UDP-N-acetyl)-2-epimerase and N-acetylmannosamine kinase6, 7, 8--two essential enzymes in sialic acid biosynthesis9. N-Acetylneuraminic Acid 175-186 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 58-61 18628337-2 2008 It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that is important in sialic acid synthesis. N-Acetylneuraminic Acid 128-139 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 33-95 18628337-2 2008 It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that is important in sialic acid synthesis. N-Acetylneuraminic Acid 128-139 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 97-100 17704511-1 2007 Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy (hIBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. N-Acetylneuraminic Acid 282-293 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 156-218 17164266-1 2007 Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion myopathy (h-IBM) is an early adult-onset distal myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene which encodes for a bifunctional enzyme involved in sialic acid biosynthesis. N-Acetylneuraminic Acid 278-289 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 152-214 17549251-2 2007 Mice that harbor mutations in the Gne/Mnk gene produce lower amounts of sialic acid, suffer from hematuria, proteinuria, and structural defects in the glomerulus and die within days after birth. N-Acetylneuraminic Acid 72-83 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 34-37 17549255-1 2007 Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder. N-Acetylneuraminic Acid 31-42 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 144-147 17235685-3 2007 The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyzes the first two steps of sialic acid biosynthesis in the cytosol. N-Acetylneuraminic Acid 18-29 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 17235685-3 2007 The key enzyme of sialic acid biosynthesis is the bifunctional UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), which catalyzes the first two steps of sialic acid biosynthesis in the cytosol. N-Acetylneuraminic Acid 172-183 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 34224569-1 2021 Among the enzymes of the biosynthesis of sialoglycoconjugates, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), catalyzing the first essential step of the sialic acid (Sia) de novo biosynthesis, and CMP-Sia synthase (CMAS), activating Sia to CMP-Sia, are particularly important. N-Acetylneuraminic Acid 176-187 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 63-125 34224569-1 2021 Among the enzymes of the biosynthesis of sialoglycoconjugates, UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), catalyzing the first essential step of the sialic acid (Sia) de novo biosynthesis, and CMP-Sia synthase (CMAS), activating Sia to CMP-Sia, are particularly important. N-Acetylneuraminic Acid 176-187 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 127-130 34511508-2 2022 GNE encodes UDP-GlcNAc epimerase/Mannose-6 kinase, a protein with two enzymatic activities that comprise the committed step in biosynthesis of sialic acid (SA), an essential glycan that appears on the terminal positions of many extracellular oligosaccharide chains. N-Acetylneuraminic Acid 143-154 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 0-3 34511508-2 2022 GNE encodes UDP-GlcNAc epimerase/Mannose-6 kinase, a protein with two enzymatic activities that comprise the committed step in biosynthesis of sialic acid (SA), an essential glycan that appears on the terminal positions of many extracellular oligosaccharide chains. N-Acetylneuraminic Acid 156-158 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 0-3 34511508-3 2022 These GNE mutations can cause a reduction of SA in many tissues, although pathology is restricted to skeletal muscles through a poorly understood mechanism. N-Acetylneuraminic Acid 45-47 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus 6-9