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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: sadeh m. Nat Genet. 2001 Sep;29(1):83-7. doi: 10.1038/ng718. Nat Genet. 2001. PMID: 11528398
Mitochondrial processes are impaired in hereditary inclusion body myopathy.
Eisenberg I, Novershtern N, Itzhaki Z, Becker-Cohen M, Sadeh M, Willems PH, Friedman N, Koopman WJ, Mitrani-Rosenbaum S. Eisenberg I, et al. Among authors: sadeh m. Hum Mol Genet. 2008 Dec 1;17(23):3663-74. doi: 10.1093/hmg/ddn261. Epub 2008 Aug 23. Hum Mol Genet. 2008. PMID: 18723858
The proteomic profile of hereditary inclusion body myopathy.
Sela I, Milman Krentsis I, Shlomai Z, Sadeh M, Dabby R, Argov Z, Ben-Bassat H, Mitrani-Rosenbaum S. Sela I, et al. Among authors: sadeh m. PLoS One. 2011 Jan 31;6(1):e16334. doi: 10.1371/journal.pone.0016334. PLoS One. 2011. PMID: 21305017 Free PMC article.
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: sadeh m. 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.
248 results