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A Drosophila model for Dent's disease type 1 revealed impaired endoplasmic reticulum export of Cubilin as pathogenic mechanism.

Kidney international - 1 May 2026

Christer Salómon, Marelja Zvonimir, Dibra Indira, Hauschild Hannah, Berquez Marine, Gandhi Hetvi, Shih Yung-Hsin, Keller Svenja, Helmstädter Martin, Schell Christoph, Devuyst Olivier, Simons Matias

Abstract excerpt

INTRODUCTION: Pathogenic variants in the CLCN5 gene encoding the chloride-hydrogen exchanger ClC-5 cause Dent's disease type 1, a genetic disorder of the endolysosomal pathway in the proximal tubules of the kidneys. A hallmark of this disease is the downregulation of the protein uptake receptor consisting of megalin, cubilin and amnionless, causing low-molecular-weight proteinuria. Why these receptors are...

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Identifiers

PMID: 41690574
DOI: 10.1016/j.kint.2026.01.016

Genes

CLCN5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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