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UDP-GlcNAc
ManNAc + UDP
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sialic acid biosynthetic pathway
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UDP-N-acetyl-D-glucosamine
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enzyme of the N-acetylneuraminic acid metabolic pathway
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UDP-N-acetyl-D-glucosamine
UDP-N-acetyl-D-mannosamine
UDP-N-acetyl-D-glucosamine + H2O
UDP + N-acetylmannosamine
additional information
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UDP-N-acetyl-D-glucosamine
UDP-N-acetyl-D-mannosamine
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UDP-N-acetyl-D-glucosamine
UDP-N-acetyl-D-mannosamine
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UDP-N-acetyl-D-glucosamine
UDP-N-acetyl-D-mannosamine
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UDP-N-acetyl-D-glucosamine
UDP-N-acetyl-D-mannosamine
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reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
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UDP-N-acetyl-D-glucosamine + H2O
UDP + N-acetylmannosamine
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UDP-N-acetyl-D-glucosamine + H2O
UDP + N-acetylmannosamine
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UDP-N-acetyl-D-glucosamine + H2O
UDP + N-acetylmannosamine
epimerase active site amino acid residues D21, G111, H132, G136 and D144 are required for stabilization of the active site structure, residues R19, S301 and E307 are involved in binding of the UDP portion of the substrate. Amino acid residues K24, P27, M29, D112, E134, D143, D144, R147, S302 and R113 are located in vicinity of the active site, while residues G182 and D187 are part of the active site hinge region. The possible general catalyst is residue H220, and residues H45 and H132 are required for 2-epimerase activity
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additional information
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key enzyme for biosynthesis of N-acetylneuraminate is the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, catalyzing the first two steps of the biosynthesis in the cytosol
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additional information
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rate-limiting step in sialic acid biosynthesis pathway. The enzyme is the major determinant of cell surface sialylation in hematopoietic cell lines and is a critical regulator of the function of specific cell surface adhesion molecules
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additional information
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downregulation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in hyposialylated HIV-infected T cells with consequential glycosylation modification (the deficiency can be entirely corrected by nutrient complementation with N-acetylmannosamine). The promoter of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is de novo hypermethylated in HIV-infected CEM cells
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additional information
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the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is a rate-limiting enzyme of sialic acid biosynthesis
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additional information
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the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
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additional information
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the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
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additional information
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biosynthesis of sialic acids
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additional information
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biosynthesis of sialic acids
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additional information
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role of splice variant GNE1 in basic supply of cells with sialic acids, whereas GNE2 and GNE3 may have a function in finetuning of the sialic acid pathway
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additional information
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GNE interacts with proteins involved in the regulation of development, e.g. the transcription factor promyelotic leukemia zinc finger protein, which might play a crucial role in the hereditary inclusion body myopathy. GNE is regulated by a variety of biochemical means, including tetramerization promoted by the substrate UDP-GlcNAc, phosphorylation by protein kinase C and feedback inhibition by CMP-Neu5Ac, which is defect in the human disease sialuria. Multienzyme complexes of GNE with the other enzymes of the sialic acid biosynthesis pathway, either close to the Golgi CMP sialic acid transporter or in particular with the nuclear localized CMP-sialic acid synthetase, are possible
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additional information
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GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities
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additional information
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GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities
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additional information
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GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities
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additional information
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GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities
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additional information
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GNE is a bifunctional enzyme with UDP-GlcNAc 2-epimerase and ManNAc kinase activities
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Amyloidosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Anemia
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Bardet-Biedl Syndrome
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Breast Neoplasms
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Carcinoma
Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells.
Carcinoma
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Carcinoma, Hepatocellular
UDP-N-acetylglucosamine 2'-epimerase of rat hepatoma and its comparison with the enzyme of rat liver.
Distal Myopathies
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.
Distal Myopathies
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Distal Myopathies
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Distal Myopathies
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.
Distal Myopathies
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
Distal Myopathies
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.
Distal Myopathies
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Distal Myopathies
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
Distal Myopathies
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
Distal Myopathies
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Distal Myopathies
Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy.
Distal Myopathies
GNE myopathy in Chinese population: hotspot and novel mutations.
Distal Myopathies
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
Distal Myopathies
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Distal Myopathies
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.
Distal Myopathies
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Distal Myopathies
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.
Distal Myopathies
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
Distal Myopathies
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
Distal Myopathies
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
Distal Myopathies
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
Distal Myopathies
[Development of therapy for distal myopathy with rimmed vacuoles]
Dwarfism
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Genetic Diseases, Inborn
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Hematuria
Sizing up sialic acid in glomerular disease.
Hyperlipoproteinemia Type I
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Hypoalphalipoproteinemias
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Infections
Comparative Genomic Analysis of Mannheimia haemolytica from Bovine Sources.
Intellectual Disability
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Leukemia
The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis.
Leukemia, Myeloid
Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase.
lipoprotein lipase deficiency
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Liver Neoplasms, Experimental
Epigenetically mediated loss of UDP-GlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines.
Lymphoma
Biosynthesis of N-acetylneuraminic acid in cells lacking UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.
Lymphoma, B-Cell
Efficient biochemical engineering of cellular sialic acids using an unphysiological sialic acid precursor in cells lacking UDP-N-acetylglucosamine 2-epimerase.
Malaria
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Migraine Disorders
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Muscle Weakness
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Muscle Weakness
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
Muscle Weakness
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.
Muscular Diseases
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.
Muscular Diseases
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Muscular Diseases
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
Muscular Diseases
A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.
Muscular Diseases
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
Muscular Diseases
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
Muscular Diseases
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.
Muscular Diseases
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Muscular Diseases
Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.
Muscular Diseases
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
Muscular Diseases
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Muscular Diseases
GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.
Muscular Diseases
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Muscular Diseases
GNE myopathy in Chinese population: hotspot and novel mutations.
Muscular Diseases
GNE myopathy: current update and future therapy.
Muscular Diseases
GNE protein expression and subcellular distribution are unaltered in HIBM.
Muscular Diseases
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Muscular Diseases
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.
Muscular Diseases
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Muscular Diseases
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.
Muscular Diseases
Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body Myopathy.
Muscular Diseases
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Muscular Diseases
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Muscular Diseases
Muscle imaging findings in GNE myopathy.
Muscular Diseases
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Muscular Diseases
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
Muscular Diseases
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Muscular Diseases
Novel GNE compound heterozygous mutations in a GNE myopathy patient.
Muscular Diseases
Novel GNE mutations in two phenotypically distinct HIBM2 patients.
Muscular Diseases
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Muscular Diseases
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Muscular Diseases
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Muscular Diseases
Perspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?
Muscular Diseases
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.
Muscular Diseases
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.
Muscular Diseases
The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Muscular Diseases
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Muscular Diseases
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
Muscular Diseases
Unfolded Protein Response and Activated Degradative Pathways Regulation in GNE Myopathy.
Muscular Diseases
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Muscular Diseases
[Development of therapy for distal myopathy with rimmed vacuoles]
Muscular Diseases
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]
Muscular Diseases
[GNE myopathy].
Neoplasms
Evidence for dynamic interplay of different oligomeric states of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase by biophysical methods.
Osteoporosis
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Proteinuria
Sizing up sialic acid in glomerular disease.
Rickets
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Sarcoma, Yoshida
UDP-N-acetylglucosamine 2'-epimerase of rat hepatoma and its comparison with the enzyme of rat liver.
Sialic Acid Storage Disease
2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.
Sialic Acid Storage Disease
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
Sialic Acid Storage Disease
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells.
Sialic Acid Storage Disease
Identification of the metabolic defect in sialuria.
Sialic Acid Storage Disease
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.
Sialic Acid Storage Disease
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Sialic Acid Storage Disease
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.
Sialic Acid Storage Disease
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Sialic Acid Storage Disease
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
Sialic Acid Storage Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Sialic Acid Storage Disease
Sialic acid metabolism in sialuria fibroblasts.
Sialic Acid Storage Disease
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
Sialic Acid Storage Disease
Sialuria-Related Intellectual Disability in Children and Adolescent of Pakistan: Tenth Patient Described has a Novel Mutation in GNE gene.
Sialic Acid Storage Disease
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.
Thrombocytopenia
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
Thrombocytopenia
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
von Hippel-Lindau Disease
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Whooping Cough
Overexpression, purification, crystallization and data collection on the Bordetella pertussis wlbD gene product, a putative UDP-GlcNAc 2'-epimerase.
Zika Virus Infection
Cell surface ?2,3-linked sialic acid facilitates Zika virus internalization.
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A630T
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity
A631V
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a naturally occuring missense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy
C303V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
C303X
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
D177C
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
D225N
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
E2G
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a naturally occuring missense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy
G135V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
G135V/R246W
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mutation in patients with hereditary inclusion body myopathy: G135V/R246W (GNE/GNE domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 38% of wild-type, N-acetylmannosamine kinase activity is 72% of wild-type
G206S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
G708S
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity
G89R
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
I142T
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a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy
I200F
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
I241S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
I298T
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a naturally occuring missense mutation in exon 5 of the GNE gene of a patient with hereditary inclusion body myopathy
I472T
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 50% of wild-type activity
L379H
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
L556S
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a naturally occuring missense mutation in exon 10 of the GNE gene of a patient with hereditary inclusion body myopathy
M171V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
M29T
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
M712T/M712T
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M712T/M712T (MNK/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 83% of wild-type, N-acetylmannosamine kinase activity is 55% of wild-type
P27S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
P283S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
P36L
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
Q436X
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a naturally occuring nonsense mutation in exon 8 of the GNE gene of a patient with hereditary inclusion body myopathy
R11W
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R129Q
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R162C
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R177C
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R202L
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R246W
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R263L
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R277C
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R306Q
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R71W
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a naturally occuring missense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy
R8X
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a naturally occuring nonsense mutation in exon 2 of the GNE gene of a patient with hereditary inclusion body myopathy
S615X
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a naturally occuring nonsense mutation in exon 11 of the GNE gene of a patient with hereditary inclusion body myopathy
V216A
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
V216A/A631V
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V216A/A631V (GNE/MNK domain mutation), UDP-N-acetylglucosamine 2-epimerase activity is 48% of wild-type, N-acetylmannosamine kinase activity is 63% of wild-type
V367I
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
V572L
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to 70-80% of wild-type activity
W204X
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a naturally occuring nonsense mutation in exon 3 of the GNE gene of a patient with hereditary inclusion body myopathy
Y675H
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a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy
C13S
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
C13S
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
D176V
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
D176V
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
D378Y
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
D378Y
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
H132Q
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
H132Q
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
M712T
the homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
M712T
the Persian-Jewish HIBM founder mutation is located at the interface alpha4alpha10 of GNE and likely affects GlcNAc, Mg2+, and ATP binding
R246Q
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R246Q
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a naturally occuring missense mutation in exon 4 of the GNE gene of a patient with hereditary inclusion body myopathy
R266Q
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GNE mutants are created by site-directed mutagenesis with the mutagenic oligonucleotides 5'-GGTTCGAGTGATGCAGAAGAAGGGCATTGAGCA-3' for the R266Q sialuria mutations (where the site of mutation is underlined) through PCR-like amplification with Pfu polymerase.
R266Q
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R266W
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GNE mutants are created by site-directed mutagenesis with the mutagenic oligonucleotides 5'-GGTTCGAGTGATGTGGAAGAAGGGCATTGAGCA-3' for the R266W sialuria mutations (where the site of mutation is underlined) through PCR-like amplification with Pfu polymerase.
R266W
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R335W
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
R335W
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a naturally occuring missense mutation in exon 6 of the GNE gene of a patient with hereditary inclusion body myopathy
V331A
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mutation in patients with distal myopathy with rimmed vacuoles, UDP-N-acetylglucosamine 2-epimerase activity of mutant enzyme is reduced to less than 20% of wild-type
V331A
a naturally occuirng missense mutation the epimerase part of the bifunctional enzyme
V696M
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a naturally occuring missense mutation in exon 12 of the GNE gene of a patient with hereditary inclusion body myopathy
V696M
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naturally occuring missense mutation G2086A involved in hereditary inclusion body myopathy, phenotype, overview
additional information
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splice variant hGNE2, recombinantly expressed in insect and mamalian cells, displays selective reduction of UDPGlcNAc 2-epimerase activity by the loss of its tetrameric state, which is essential for full enzyme activity. Splice variant hGNE3 only possesses kinase activity
additional information
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a synonymous variation, p.Y591Y, codon tac>tat, is seen in a patient bearing compound heterozygous nonsynonymous mutation, p.S615X and p.Y675H
additional information
mutant genotyping, overview. Modeling of effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action, overview. All reported mutations are associated with the active sites or secondary structure interfaces of GNE/MNK
additional information
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mutant genotyping, overview. Modeling of effects of GNE/MNK missense mutations associated with HIBM or sialuria on helix arrangement, substrate binding, and enzyme action, overview. All reported mutations are associated with the active sites or secondary structure interfaces of GNE/MNK
additional information
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sialuria is caused by the loss of feedback control of UDP-GlcNAc 2-epimerase activity due to the mutation of only one of the two arginine residues 263 and 266
additional information
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the frame shif mutation 1295delA, leading to a premature stop codon at K432, is involved in hereditary inclusion body myopathy, phenotype, overview
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Scocca, J.R.
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Homo sapiens
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Homo sapiens (Q9Y223)
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Keppler, O.T.; Hinderlich, S.; Langner, J.; Schwartz-Albiez, R.; Reutter, W.; Pawlita, M.
UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation
Science
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Homo sapiens
brenda
Krause, S.; Hinderlich, S.; Amsili, S.; Horstkorte, R.; Wiendl, H.; Argov, Z.; Mitrani-Rosenbaum, S.; Lochmueller, H.
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells
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Homo sapiens
brenda
Giordanengo, V.; Ollier, L.; Lanteri, M.; Lesimple, J.; March, D.; Thyss, S.; Lefebvre, J.C.
Epigenetic reprogramming of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) in HIV-1-infected CEM T cells
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2004
Homo sapiens (Q9Y223)
brenda
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The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy
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2004
Homo sapiens (Q9Y223), Homo sapiens
brenda
Sparks, S.E.; Ciccone, C.; Lalor, M.; Orvisky, E.; Klootwijk, R.; Savelkoul, P.J.; Dalakas, M.C.; Krasnewich, D.M.; Gahl, W.A.; Huizing, M.
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
Glycobiology
15
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2005
Homo sapiens
brenda
Noguchi, S.; Keira, Y.; Murayama, K.; Ogawa, M.; Fujita, M.; Kawahara, G.; Oya, Y.; Imazawa, M.; Goto, Y.I.; Hayashi, Y.K.; Nonaka, I.; Nishino, I.
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles
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2004
Homo sapiens
brenda
Reinke, S.O.; Hinderlich, S.
Prediction of three different isoforms of the human UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
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581
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2007
Homo sapiens (Q9Y223), Homo sapiens, Mus musculus (Q3UW64)
brenda
Wang, Z.; Sun, Z.; Li, A.V.; Yarema, K.J.
Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation
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281
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2006
Homo sapiens
brenda
Reinke, S.O.; Eidenschink, C.; Jay, C.M.; Hinderlich, S.
Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
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26
415-422
2009
Homo sapiens, Mus musculus
brenda
Amsili, S.; Zer, H.; Hinderlich, S.; Krause, S.; Becker-Cohen, M.; MacArthur, D.G.; North, K.N.; Mitrani-Rosenbaum, S.
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?
PLoS ONE
3
e2477
2008
Homo sapiens
brenda
Reinke, S.O.; Lehmer, G.; Hinderlich, S.; Reutter, W.
Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis
Biol. Chem.
390
591-599
2009
Homo sapiens, Mus musculus, Rattus norvegicus
brenda
Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.; Huizing, M.; Padberg, G.W.; Wevers, R.A.; van Engelen, B.G.; Lefeber, D.J.
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy
Clin. Neuropathol.
29
71-77
2010
Homo sapiens
brenda
Saechao, C.; Valles-Ayoub, Y.; Esfandiarifard, S.; Haghighatgoo, A.; No, D.; Shook, S.; Mendell, J.R.; Rosales-Quintero, X.; Felice, K.J.; Morel, C.F.; Pietruska, M.; Darvish, D.
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
Genet. Test. Mol. Biomarkers
14
157-162
2010
Homo sapiens
brenda
Kurochkina, N.; Yardeni, T.; Huizing, M.
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria
Glycobiology
20
322-337
2010
Homo sapiens (Q9Y223), Homo sapiens
brenda
Moeller, H.; Boehrsch, V.; Lucka, L.; Hackenberger, C.P.; Hinderlich, S.
Efficient metabolic oligosaccharide engineering of glycoproteins by UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) knock-down
Mol. Biosyst.
7
2245-2251
2011
Homo sapiens
brenda