Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis

Volume: 127, Issue: 11, Pages: 3954 - 3969
Published: Oct 9, 2017
Abstract
Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons. In UAKD patients, mutant UMOD is poorly secreted and accumulates in the ER of distal kidney epithelium, but its role in disease progression is largely unknown. Here, we modeled UMOD accumulation in mice by expressing the murine equivalent of the human UMOD...
Paper Details
Title
Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis
Published Date
Oct 9, 2017
Volume
127
Issue
11
Pages
3954 - 3969
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