Article
Endoplasmic reticulum stress in UMOD-related kidney disease: a human pathologic study.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2012
Adam Julien, Bollée Guillaume, Fougeray Sophie, Noël Laure-Hélène, Antignac Corinne, Knebelman Bertrand, Pallet Nicolas
Abstract excerpt
Mutations of the UMOD gene, which encodes the uromodulin protein, are associated with tubulointerstitial nephritis and hyperuricemia. UMOD mutations impair uromodulin folding, resulting in its retention within the endoplasmic reticulum (ER) of renal tubular cells. The aim of this study was to investigate whether mutant uromodulin accumulation in epithelial tubular cells is associated with ER stress. We...
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