NIH R01 · 2025
Activating Autophagy to Treat Uromodulin-Associated Genetic Chronic Kidney Disease
Uromodulin-associated genetic chronic kidney disease, or autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations (ADTKD-UMOD), is a leading hereditary kidney disease and characterized by renal fibrosis and progressive loss of kidney function. Currently there is no targeted therapy. To address the unmet medical needs, by using CRISPR/Cas9, we have developed an ADTKD-UMOD mouse model carrying Umod p.Tyr178-Arg186 del, the mouse equivalent of the most prevalent human mutation. Uromodulin (UMOD) is mostly synthesized and secreted by the tubular cells of thick ascending limb (TAL). Linked with mutant UMOD-triggered endoplasmic reticulum (ER) stress, our mouse model…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.