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Updated: Jun 30, 2025

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NUS1变种导致伦诺克斯-加斯托综合征与未折叠蛋白反应激活相关

Nan-Xiang Shen1, Xiao-Chong Qu1, Jing Yu2

  • 1Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, 510260, China.

Molecular neurobiology
|March 23, 2024
PubMed
概括

在NUS1基因的新变异导致Lennox-Gastaut综合征 (LGS),一种严重的发育性和性脑病变 (DEE). 这项研究将NUS1变异与未折叠蛋白反应 (UPR) 途径激活和细胞死亡联系起来.

关键词:
一个NUS1一个NUS1伦诺克斯-加斯托综合征是什么?不折叠的蛋白质反应反应变种 变种 变种 变种

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