A Drosophila model for Dent disease reveals impaired ER export of Cubilin as pathogenic mechanism
Salómon Christer, Zvonimir Marelja, Hannah Hauschild, Marine Berquez, Indira Dibra, Hetvi Gandhi, Yung-Hsin Shih, Martin Helmstädter, Olivier Devuyst, Matias Simons
This paper establishes a Drosophila model for Dent disease, showing that ClC-c depletion causes Cubilin ER retention and secretory pathway defects, revealing a new pathogenic mechanism.
bioRxiv · Mar 5, 2025 · PreprintCell Biology