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Updated: Jun 13, 2025

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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Published on: January 7, 2019

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升高的VCP ATPase活性与多系统蛋白质病变-1中的疾病发作相关

Sarah E Robinson1, Andrew R Findlay1, Shan Li1

  • 1From the Department of Neurology (S.E.R., A.R.F., J.D., C.W.), Washington University in St. Louis, MO; John Walton Muscular Dystrophy Research Centre (S.L., F.W., M.S., J.D.-M.), Newcastle University and Newcastle Hospitals NHS Foundation Trusts, United Kingdom; and Division of Biology and Biological Engineering (T.-F.C.), California Institute of Technology, Pasadena.

Neurology. Genetics
|September 16, 2024
PubMed
概括

与p97/VCP变异相关的多系统蛋白质病变-1 (MSP1) 显示了基因型-表型相关性. 在R155C变体中,较高的VCP ATPase活性与较早的疾病发作相关,表明治疗潜力.

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