Disease on EC 5.1.3.14 - UDP-N-acetylglucosamine 2-epimerase (non-hydrolysing)

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
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.
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
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.
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Expression of autophagy-associated genes in skeletal muscle: an experimental model of chloroquine-induced myopathy.
GNE myopathy in Chinese population: hotspot and novel mutations.
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.
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?
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
[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.
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
Muscular Diseases
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
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.
A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation.
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.
Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.
Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
GNE myopathy in Chinese population: hotspot and novel mutations.
GNE myopathy: current update and future therapy.
GNE protein expression and subcellular distribution are unaltered in HIBM.
Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
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.
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.
Influence of UDP-GlcNAc 2-Epimerase/ManNAc Kinase Mutant Proteins on Hereditary Inclusion Body Myopathy.
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Muscle imaging findings in GNE myopathy.
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).
Novel GNE compound heterozygous mutations in a GNE myopathy patient.
Novel GNE mutations in two phenotypically distinct HIBM2 patients.
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
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.
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
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?
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.
The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
Unfolded Protein Response and Activated Degradative Pathways Regulation in GNE Myopathy.
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
[Development of therapy for distal myopathy with rimmed vacuoles]
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis]
[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.
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
Enhanced sialylation of EPO by overexpression of UDP-GlcNAc 2-epimerase/ManAc kinase containing a sialuria mutation in CHO cells.
Identification of the metabolic defect in sialuria.
Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria.
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review.
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Sialic acid metabolism in sialuria fibroblasts.
Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.
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.