A Drosophila model for Dent’s disease type 1 revealed impaired endoplasmic reticulum export of Cubilin as pathogenic mechanism
Our findings suggest that in addition to its endosomal role ClC-c/ClC-5 acts in the secretory pathway to promote surface trafficking of the Cubilin/Amnionless complex. This function may partly explain low-molecular-weight proteinuria in patients with Dent's disease.
Authors
- Marine Berquez (ORCID: https://orcid.org/0000-0001-6909-2060)
- Svenja Aline Keller (ORCID: https://orcid.org/0000-0003-3379-8832)
- Hetvi Gandhi (ORCID: https://orcid.org/0000-0001-5820-1380)
- H Hauschild
- Christoph Schell (ORCID: https://orcid.org/0000-0001-5344-624X)
- Salómon Christer
- Yung-Hsin Shih
- Indira Dibra
- Martin Helmstädter
Institutions
- University of Freiburg (DE)
- University of Zurich (CH)
- Heidelberg University (DE)
- University Medical Center Freiburg (DE)
- University Hospital Heidelberg (DE)
- Institute of Human Genetics (PL)
Publication Details
- Journal
- Kidney International
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.kint.2026.01.016
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00