Article
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
EMBO molecular medicine - 7 Dec 2023
Schiano Guglielmo, Lake Jennifer, Mariniello Marta, Schaeffer Céline, Harvent Marianne, Rampoldi Luca, Olinger Eric, Devuyst Olivier
Abstract excerpt
Missense mutations in the uromodulin (UMOD) gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD), one of the most common monogenic kidney diseases. The unknown impact of the allelic and gene dosage effects and fate of mutant uromodulin leaves open the gap between postulated gain-of-function mutations, end-organ damage and disease progression in ADTKD. Based on two prevalent missense UMOD...
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