Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease

X-linked Charcot-Marie-Tooth Disease type 1(CMT1X) is the second most common form of inherited peripheral neuropathy that is caused by mutations in the gap junction beta-1 (GJB1) gene. Using targeted exome-sequencing, we investigated four CMT families from central-southern China and identified two n...

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Bibliographic Details
Main Authors: Fan Chu, Jiaming Xu, Yong Wang, Yingjie Li, Yaling Wang, Zhijun Liu, Chuanzhou Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Neuroscience
Subjects:
GJB1
gap junction
aggregation
stress granule
Charcot-Marie-Tooth
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2022.972288/full

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