A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family

Abstract Objective Hereditary spastic paraplegia (HSP) has been reported rarely because of a monoallelic variant in ERLIN2. The present study aimed at describing a novel autosomal dominant ERLIN2 pedigree in a Chinese family and exploring the possible mechanism of HSP caused by ERLIN2 variants. Meth...

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Bibliographic Details
Main Authors: Juan Wang, Rongjuan Zhao, Hanshuai Cao, Zhaoxu Yin, Jing Ma, Yingming Xing, Wei Zhang, Xueli Chang, Junhong Guo
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51902