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Updated: Jul 26, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Published on: June 9, 2021

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在震病理生理学中,有缺陷的小脑里亚诺丁受体1型和内质网膜"泄漏"

Regina T Martuscello1,2, Meng-Ling Chen3,2, Steven Reiken4

  • 1Department of Pathology and Cell Biology, Columbia University Medical Center Vagelos College of Physicians and Surgeons and the New York Presbyterian Hospital, 630 W 168th Street, PH Stem 15-124, New York, NY, 10032, USA.

Acta neuropathologica
|June 19, 2023
PubMed
概括

基本震 (ET) 涉及小脑中的泄漏的氨酸受体1型 (RyR1) 通道,导致异常的释放. 一种新的Rycal化合物有效地减少了小鼠模型中的震,这表明ET的新治疗标.

关键词:
是一种细胞的压力是细胞的压力.大脑小部分的大脑小部分基本的震震.鼠标模型模型RyR1R1 RyR1R1 RyR1R1 RyR1R1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1 RyR1

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