Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney Disease
Guglielmo Schiano, Jennifer L. Lake, Marta Mariniello, Céline Schaeffer, Marianne Harvent, Luca Rampoldi, Eric Gregory Olinger, Olivier Devuyst
This study investigates allelic and gene dosage effects of UMOD mutations in ADTKD, showing toxic aggregates and ER stress contribute to kidney disease progression.
bioRxiv · Sep 13, 2022 · PreprintGenetics