The chemical chaperone, PBA, reduces ER stress and autophagy and increases collagen IV a5 expression in cultured fibroblasts from men With X-linked alport syndrome and missense mutations

• Main Authors: Wang, Dongmao, Mohammad, Mardhiah, Wang, Yanyan, Tan, Rachel, Murray, Lydia S., Ricardo, Sharon, Dagher, Hayat, Agtmael, Tom van, Savige, Judy
• Format: Article
• Language: English
• Published: Elsevier 2017
• Subjects: Q Science (General); R Medicine (General)
• Online Access: http://irep.iium.edu.my/62219/1/mardhiah2017.pdf; http://irep.iium.edu.my/62219/; http://www.kireports.org/article/S2468-0249(17)30058-X/pdf; http://dx.doi.org/10.1016/j.ekir.2017.03.004

Introduction: X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations. Methods: Dermal fibroblast cult...