Uromodulin Processing in DNAJB11-kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant tubulointerstitial kidney disease (ADTKD) are among the most frequent monogenic disorders causing chronic kidney disease (CKD). The main genes associated with ADPKD are PKD1 and PKD2 encoding membrane and primary cilia proteins, polycystin-1 and polycystin-2, which are involved in multiple pathways regulating tubular cell differentiation. Recently, genes coding for proteins involved in the endoplasmic reticulum (ER) have been associated with rare, atypical forms of ADPKD.

Source: Kidney International - November 25, 2023 Category: Urology & Nephrology Authors: Marta Mariniello, Guglielmo Schiano, Ayumi Yoshifuji, Valentine Gillion, John Andrew Sayer, Fran çois Jouret, Genkyst Study Group, Yannick Le Meur, Emilie Cornec-Le Gall, Eric Gregory Olinger, Olivier Devuyst Tags: research letter Source Type: research