Article
Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.
The Journal of clinical investigation - 16 Dec 2024
Bazua-Valenti Silvana, Brown Matthew R, Zavras Jason, Riedl Khursigara Magdalena, Grinkevich Elizabeth, Sidhom Eriene-Heidi, Keller Keith H, Racette Matthew, Dvela-Levitt Moran, Quintanova Catarina, Demirci Hasan, Sewerin Sebastian, Goss Alissa C, Lin John, Yoo Hyery, Vaca Jacome Alvaro S, Papanastasiou Malvina, Udeshi Namrata, Carr Steven A, Himmerkus Nina, Bleich Markus, Mutig Kerim, Bachmann Sebastian, Halbritter Jan, Kmoch Stanislav, Živná Martina, Kidd Kendrah, Bleyer Anthony J, Weins Astrid, Alper Seth L, Shaw Jillian L, Kost-Alimova Maria, Pablo Juan Lorenzo B, Greka Anna
Abstract excerpt
The trafficking dynamics of uromodulin (UMOD), the most abundant protein in human urine, play a critical role in the pathogenesis of kidney disease. Monoallelic mutations in the UMOD gene cause autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), an incurable genetic disorder that leads to kidney failure. The disease is caused by the intracellular entrapment of mutant UMOD in kidney epithelial...
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