Article
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Journal of the American Society of Nephrology : JASN - 1 Apr 2022
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
Abstract excerpt
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 EHD1 in human...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.