UDP acetylglucosamine-2-epimerase

catalyzes the formation of N-acetylmannosamine & UDP from UDP N-acetylglucosamine; minor descriptor (75-82); online & Index Medicus search CARBOHYDRATE ISOMERASES (75-82); minor descriptor (75-82); file maintained to CARBOHYDRATE ISOMERASES

Also Known As:

Networked: 17 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Nishino, Ichizo: 4 articles (01/2022 - 11/2009)
2.	Noguchi, Satoru: 3 articles (01/2022 - 11/2009)
3.	Mori-Yoshimura, Madoka: 2 articles (01/2022 - 07/2012)
4.	Oya, Yasushi: 2 articles (01/2022 - 07/2012)
5.	Malicdan, May Christine V: 2 articles (07/2012 - 11/2009)
6.	Kimura, Ayano: 1 article (01/2022)
7.	Mizuno, Katsuhiro: 1 article (01/2022)
8.	Segawa, Kazuhiko: 1 article (01/2022)
9.	Takahashi, Yuji: 1 article (01/2022)
10.	Tsuru, Ayumi: 1 article (01/2022)

Related Diseases

1.	Sialic Acid Storage Disease (Salla Disease) 06/01/1999 - "The patient's UDP-GlcNAc 2-epimerase gene displayed an R266Q mutation in only one allele, consistent with known sialuria mutations and with the proposed dominant nature of this disorder. " 03/22/1979 - "Sialuria is discussed in terms of a failure of regulation of UDP-N-acetylglucosamine 2-epimerase." 12/26/2003 - "Lec3 mutants with no UDP-GlcNAc 2-epimerase activity represent sensitive hosts for characterizing disease-causing mutations in the human GNE gene that give rise to sialuria, hereditary inclusion body myopathy, and Nonaka myopathy." 06/01/1999 - "We report the cloning and characterization of human UDP-GlcNAc 2-epimerase cDNA, with mutation analysis of three patients with sialuria. " 06/01/1999 - "Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme."
2.	Muscular Diseases (Myopathy) 07/15/2012 - "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." 01/01/2022 - "We previously identified UDP-N-acetylglucosamine 2-epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease-specific cardiac involvement. " 01/01/2014 - "Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. " 04/01/2015 - "GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. "
3.	Nonaka type Distal myopathy 12/26/2003 - "Lec3 mutants with no UDP-GlcNAc 2-epimerase activity represent sensitive hosts for characterizing disease-causing mutations in the human GNE gene that give rise to sialuria, hereditary inclusion body myopathy, and Nonaka myopathy." 11/01/2005 - "Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy." 01/01/2014 - "Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. " 11/01/2009 - "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. "
4.	Thrombocytopenia (Thrombopenia) 11/16/2020 - "Here we report a case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. " 01/01/2022 - "We previously identified UDP-N-acetylglucosamine 2-epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease-specific cardiac involvement. "
5.	B-Cell Lymphoma (Lymphoma, B Cell) 08/10/2001 - "N-Propanoylmannosamine, applied to endogenously hyposialylated subclones of the myeloid leukemia HL60 and of the B-cell lymphoma BJA-B, both deficient in UDP-N-acetylglucosamine 2-epimerase, is efficiently metabolized to CMP-N-propanoylneuraminic acid resulting in up to 85% of glycoconjugate-associated sialic acids being unphysiological N-propanoylneuraminic acid. "

Related Drugs and Biologics

1.	Uridine Diphosphate (UDP)
2.	Acetylglucosamine
3.	Cytidine Monophosphate (CMP)
4.	Racemases and Epimerases (Epimerases and Racemases)
5.	N-Acetylneuraminic Acid (Sialic Acid)
6.	N-acylmannosamine kinase
7.	Proteins (Proteins, Gene)
8.	Enzymes
9.	Complementary DNA (cDNA)
10.	Uridine Diphosphate N-Acetylgalactosamine