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Updated: Sep 14, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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卡尔塞克斯特林-1 缺乏症诱导恶性高热症 - - 通过线粒体乱引起骨损伤

Xintong Guo1, Xin Geng1, Hanying Zhang1

  • 1Department of Pharmacology, School of Basic Medical Sciences, Beijing Key Laboratory of Metabolic Disturbance Related Cardiovascular Disease, Capital Medical University, District of Fengtai, Street of Youanmenwai, #10 Xitoutiao, Beijing 100069, P. R. China.

Biological & pharmaceutical bulletin
|July 24, 2025
PubMed
概括

卡尔塞奎斯特林-1 (CASQ1) 缺乏导致骨肌损伤和线粒体功能障碍,通过减少MICU1的表达,增加线粒体和ROS. 基因疗法恢复了小鼠的功能.

关键词:
卡尔西奎斯特林-1-1是什么?恶性高热症恶性高热症线粒体中的Ca2++线粒体功能障碍 线粒体功能障碍

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