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A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

URN to cite this document:
urn:nbn:de:bvb:355-epub-523346
DOI to cite this document:
10.5283/epub.52334
Issler, Naomi ; Afonso, Sara ; Weissman, Irith ; Jordan, Katrin ; Cebrian-Serrano, Alberto ; Meindl, Katrin ; Dahlke, Eileen ; Tziridis, Konstantin ; Yan, Guanhua ; Robles-López, José M. ; Tabernero, Lydia ; Patel, Vaksha ; Kesselheim, Anne ; Klootwijk, Enriko D. ; Stanescu, Horia C. ; Dumitriu, Simona ; Iancu, Daniela ; Tekman, Mehmet ; Mozere, Monika ; Jaureguiberry, Graciana ; Outtandy, Priya ; Russell, Claire ; Forst, Anna-Lena ; Sterner, Christina ; Heinl, Elena-Sofia ; Othmen, Helga ; Tegtmeier, Ines ; Reichold, Markus ; Schiessl, Ina Maria ; Limm, Katharina ; Oefner, Peter ; Witzgall, Ralph ; Fu, Lifei ; Theilig, Franziska ; Schilling, Achim ; Shuster Biton, Efrat ; Kalfon, Limor ; Fedida, Ayalla ; Arnon-Sheleg, Elite ; Ben Izhak, Ofer ; Magen, Daniella ; Anikster, Yair ; Schulze, Holger ; Ziegler, Christine ; Lowe, Martin ; Davies, Benjamin ; Böckenhauer, Detlef ; Kleta, Robert ; Falik Zaccai, Tzipora C. ; Warth, Richard
Date of publication of this fulltext: 24 May 2022 14:49



Abstract

Background The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understood. EHD1 belongs to a family of proteins presumably involved in the scission of intracellular vesicles and in ciliogenesis. However, the relevance of ...

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