Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis
Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis
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American Society for Clinical Investigation
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Language
English
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Publisher
American Society for Clinical Investigation
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Contents
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...
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Full title
Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis
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TN_cdi_gale_infotracmisc_A515381812
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A515381812
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ISSN
0021-9738
DOI
10.1172/JCI93817.
