首页> 外文OA文献 >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

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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

机译：UDP-N-乙酰氨基葡萄糖2-表异构酶/ N-乙酰甘露糖胺激酶的纯合M712T突变导致酶活性降低，但不会改变遗传性包涵体肌病的整体细胞唾液酸化

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Hinderlich Stephan; Salama Ilan; Eisenberg Iris; Potikha Tamara; Mantey Lars R.; Yarema Kevin J.; Horstkorte Rüdiger; Argov Zohar; Sadeh Menachem; Reutter Werner; Mitrani-Rosenbaum Stella;
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1. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. [J] . Sparks SE, Ciccone C, Lalor M, Glycobiology. . 2005,第11期

机译：使用无细胞系统确定人类遗传性包涵体肌病中的UDP-N-乙酰氨基葡糖2-表异构酶和N-乙酰甘露糖胺激酶活性。
2. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. [J] . Eisenberg I, Avidan N, Potikha T, Nature Genetics . 2001,第1期

机译：UDP-N-乙酰氨基葡萄糖2-表异构酶/ N-乙酰甘露糖胺激酶基因在隐性遗传性包涵体肌病中发生突变。
3. 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 [J] . Mori-YoshimuraM., MonmaK., SuzukiN., Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2012,第1a2期

机译：与纯合的N-乙酰甘露糖胺激酶结构域突变相比，GNE基因中的杂合UDP-GlcNAc 2-表异构酶和N-乙酰甘露糖胺激酶结构域突变导致较轻的GNE肌病表型
4. Domain-specific characteristics of the bifunctional key enzyme of sialic acid biosynthesis UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase [O] . Astrid Blume, Wenke Weidemann, Ulrich Stelzl, 2004

机译：唾液酸生物合成双功能关键酶UDP-N-乙酰氨基葡糖2-表异构酶/ N-乙酰甘露糖胺激酶的域特异性特征
5. Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy [O] . Susan E. Sparks, Carla Ciccone, Molly Lalor, 2005

机译：利用无细胞系统测定人遗传性包涵体肌病中的UDp-N-乙酰葡糖胺2-差向异构酶和N-乙酰甘露糖胺激酶活性

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

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