Article
No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease.
The Journal of biological chemistry - 11 Apr 2014
Kemter Elisabeth, Sklenak Stefanie, Rathkolb Birgit, Hrabě de Angelis Martin, Wolf Eckhard, Aigner Bernhard, Wanke Ruediger
Abstract excerpt
Uromodulin (UMOD)-associated kidney disease (UAKD) belongs to the hereditary progressive ER storage diseases caused by maturation defects of mutant UMOD protein. Current treatments of UAKD patients are symptomatic and cannot prevent disease progression. Two in vitro studies reported a positive effect of the chemical chaperone sodium 4-phenylbutyrate (4-PBA) on mutant UMOD maturation. Thus, 4-PBA was suggested as...
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