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

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. METHODS: The...

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Detalles Bibliográficos
Autores principales: Wang, Juan, Zhao, Rongjuan, Cao, Hanshuai, Yin, Zhaoxu, Ma, Jing, Xing, Yingming, Zhang, Wei, Chang, Xueli, Guo, Junhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646992/
https://www.ncbi.nlm.nih.gov/pubmed/37752894
http://dx.doi.org/10.1002/acn3.51902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10646992/
https://www.ncbi.nlm.nih.gov/pubmed/37752894
http://dx.doi.org/10.1002/acn3.51902

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