Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors

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 lead...

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Veröffentlicht in:	The Journal of clinical investigation 2024-12, Vol.134 (24)
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Care and treatment Diagnosis Endoplasmic reticulum Gene mutations Genetic aspects Genetic disorders Glycoproteins Health aspects Humans Kidney diseases Membrane Glycoproteins - genetics Membrane Glycoproteins - metabolism Membrane proteins Mice Mutation Protein folding Protein Transport Uromodulin - genetics Uromodulin - metabolism
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