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Article

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Human mutation - 1 Aug 2018

Bignon Yohan, Alekov Alexi, Frachon Nadia, Lahuna Olivier, Jean-Baptiste Doh-Egueli Carine, Deschênes Georges, Vargas-Poussou Rosa, Lourdel Stéphane

Abstract excerpt

Dent disease is an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5, have been reported in patients with Dent disease 1. In vivo studies in mice harboring an artificial mutation in the "gating glutamate" of...

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Identifiers

PMID: 29791050
DOI: 10.1002/humu.23556

Genes

CLCN5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.PMID 29791050Read ↗

A pure chloride channel mutant of CLC-5 causes Dent's disease via insufficient V-ATPase activation.Semantic proximity Read ↗

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.Semantic proximity Read ↗

Heterogeneity in the processing of CLCN5 mutants related to Dent disease.Semantic proximity Read ↗

Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients.Semantic proximity Read ↗

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.Semantic proximity Read ↗

TMEM9 and SEC22B interact with ClC-5 to shape renal proximal tubule function and Dent’s Disease type I pathogenesisSemantic proximity Read ↗

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.Semantic proximity Read ↗

ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5.Semantic proximity Read ↗

ClC-5 chloride channel and kidney stones: what is the link?Semantic proximity Read ↗

Dent disease 1-linked novel CLCN5 mutations result in aberrant location and reduced ion currents.Semantic proximity Read ↗

Functional characterization of a novel missense CLCN5 mutation causing alterations in proximal tubular endocytic machinery in Dent's disease.Semantic proximity Read ↗

Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.Semantic proximity Read ↗

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