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The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: argov z. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Genetics of inclusion body myopathies.
Argov Z, Eisenberg I, Mitrani-Rosenbaum S. Argov Z, et al. Curr Opin Rheumatol. 1998 Nov;10(6):543-7. doi: 10.1097/00002281-199811000-00006. Curr Opin Rheumatol. 1998. PMID: 9812214 Review.
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.
Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, Horstkorte R, Argov Z, Sadeh M, Reutter W, Mitrani-Rosenbaum S. Hinderlich S, et al. Among authors: argov z. FEBS Lett. 2004 May 21;566(1-3):105-9. doi: 10.1016/j.febslet.2004.04.013. FEBS Lett. 2004. PMID: 15147877 Free article.
176 results