Cystinosin is involved in Na+/H+ Exchanger 3 trafficking in the proximal tubular cells: new insights in the renal Fanconi syndrome in cystinosis
Veenita Khare, Jean‐Claude Farré, Céline J. Rocca, Mouad Ait Kbaich, Cynthia Tang, Xuan Ma, Kavya Biederman, Ioli Mathur, Rafael A. Badell‐Grau, Anusha Sivakumar, Rola Chen, Sergio Daniel Catz, Stéphanie Cherqui
This study identifies a novel role of cystinosin in NHE3 trafficking in proximal tubular cells, contributing to renal Fanconi syndrome in cystinosis and suggesting new therapeutic targets.
bioRxiv · Feb 12, 2025 · PreprintMolecular Biology