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

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

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...

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Bibliographic Details
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/
http://irep.iium.edu.my/62219/1/mardhiah2017.pdf

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