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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Detalles Bibliográficos
Autores principales: Chu, Fan, Xu, Jiaming, Wang, Yong, Li, Yingjie, Wang, Yaling, Liu, Zhijun, Li, Chuanzhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548587/
https://www.ncbi.nlm.nih.gov/pubmed/36225735
http://dx.doi.org/10.3389/fnins.2022.972288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548587/
https://www.ncbi.nlm.nih.gov/pubmed/36225735
http://dx.doi.org/10.3389/fnins.2022.972288

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