Disease on EC 5.1.3.14 - UDP-N-acetylglucosamine 2-epimerase (non-hydrolysing)
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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
Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy.
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).
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.
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.
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
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
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
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 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
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]
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.
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
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
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.
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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