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A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in Wolfram syndrome 1 (WFS1) gene may cause dysregulated endoplasmic reticulum (ER)-stress and cell apoptosis, contributing to WS sym...

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Detalles Bibliográficos
Autores principales: Gong, Yingying, Xiong, Li, Li, Xiujun, Su, Lei, Xiao, Haipeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059287/
https://www.ncbi.nlm.nih.gov/pubmed/33879153
http://dx.doi.org/10.1186/s12902-021-00748-z