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Updated: Jun 23, 2025

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
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Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

Published on: September 27, 2024

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在USP25中异性变体会导致遗传通用性

Cui-Xia Fan1, Xiao-Rong Liu1, Dao-Qi Mei2

  • 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.

Brain : a journal of neurology
|June 14, 2024
PubMed
概括

在USP25 (ubiquitin特定蛋白酶25) 的遗传变异与普遍性有关. 这项研究在发作患者中确定了USP25变体,这表明USP25在发育中起作用.

关键词:
美国25美功能收益的功能收益.遗传通用性是一种遗传性普遍性.功能丧失 功能丧失 功能丧失

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