UDP-N-Acetylglucosamine-2-epimerase

UDP-N-acetylglucosamine- 2-epimerase none possible oxonium intermediate ... 

Hinderlich, S. Nohring, S. Weise, C. Franke, P. Stasche, R. Reutter, W. Purification and characterization of N-acetylglucosamine kinase from rat Hver. Comparison with UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase. Eur. J. Biochem., 252, 133-139 (1998)... 

Effertz, K. Hinderlich, S. Reutter, W. Selective loss of either the epimerase or kinase activity of UDP-N-acetylglucosamine 2-epimerase/N-acetylman-nosamine kinase due to site-directed mutagenesis based on sequence alignments. J. Biol. Chem., 274, 28771-28778 (1999)... 

Seppala R, Lehto VP, Gahl WA. Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Am J Hum Genet 1999 64(6) 1563. 

Further information concerning the reaction mechanism was obtained in recent experiments by Salo and Fletcher (1970a,b). To examine the hypothesis that UDP-N-acetylmannosamine is an intermediate in the reaction, this nucleotide sugar was synthesized chemically (Salo and Fletcher, 1970a), and on incubation with UDP-N-acetylglucosamine 2-epimerase, cleavage to UDP and N-acetylmannosamine did indeed... 

BisenbergI, AvidanN, PotikhaTetal. (2001) The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosa-mine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 29, 83-87. 

Hortskorte R, Nohring S, Wiechens N et al. (1999) Tissue expression and amino acid sequence of murine UDP-N-acetylglucosamine-2-epimerase/N-acetyl-mannosamine kinase. FEBS J 260, 923-927. 

Reinke SO, Bidenschink C, Jay CM, Hinderlich S. (2009) Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNB). Gly-coconj J 26, 415—422. 

Noguchi S, Keira Y, Murayama K et al. (2004) Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetyhnaimosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 279, 11402-11407. 

Hinderlich S, Stasche R, ZeitlerR, Reutter W. (1997) A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic add biosynthesis of rat liver. Purification and charaderization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. J Biol Chem 272, 24313-24318. 

HongY, Stanley P. (2003) Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. J Biol Chem 278, 53045-53054. 

Horstkorte R, Nohring S, Danker K et al. (2000) Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosa-mine kinase. FEBS Lett HO, 315-318. 

Gagiannis D, Orthmann A, Danssmann I et al. (2007) Reduced sialylation status in UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)-deficient mice. Glycoconj J 2A, 125-130. 

Hereditary inclusion-body myopathy (h-IBM) is a heterogeneous group of disorders associated with rimmed vacuoles and cytoplasmic and intranuclear inclusions of 15-21 -nm filaments [ 1]. An autosomal recessive quadriceps-sparing form of the disorder with onset in early adulthood prevalent among the Iranian Jewish population is associated with mutations in the UDP-N-acetylglucosamine-2 epimerase/ N-acetyhnannosamine kinase (ONE) gene [2, 3], Nonaka inclusion-body myopathy is an allelic disorder with a similar phenotype [4]. 

UDP-N-acetylglucosamine 2-epimerase 5.1.3.14 UDP-GlcNAc CMP-Neu5Ac + cytosol ( ) Spivak and Roseman 1966... 

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