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Updated: Mar 31, 2026

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CMT2D神经病变与糖基-tRNA合成酶的新型结合活性有关

Weiwei He1, Ge Bai2, Huihao Zhou1

  • 1Departments of Chemical Physiology and Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California 92037, USA.

Nature
|October 28, 2015
PubMed
概括

糖基转移RNA合成酶 (GlyRS) 的突变通过启用新的结合活性导致夏科-玛丽-图斯病2D. 这种异常的GlyRS与神经素1结合,阻断生存信号,导致运动神经元退化.

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