Article
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 - 1 Nov 2005
Sparks Susan E, Ciccone Carla, Lalor Molly, Orvisky Eduard, Klootwijk Riko, Savelkoul Paul J, Dalakas Marinos C, Krasnewich Donna M, Gahl William A, Huizing Marjan
Abstract excerpt
Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis. We developed individual GNE and MNK enzymatic assays and determined reduced activities in cultured...
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