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Article

Small molecules restore the function of mutant CLC5 associated with Dent disease.

Journal of cellular and molecular medicine - 1 Jan 2021

Liu Jingshu, Sadeh Tal T, Lippiat Jonathan D, Thakker Rajesh V, Black Graeme C, Manson Forbes

Abstract excerpt

Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl- /H+ exchanger. The CLC5 mutants that have been functionally analysed constitute three major classes based on protein expression, cellular localization and channel function. We tested two small molecules, 4-phenylbutyrate (4PBA) and its analogue 2-naphthoxyacetic acid (2-NOAA), for their effect on mutant CLC5 function and...

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Identifiers

PMID: 33200471
DOI: 10.1111/jcmm.16091
PMCID: PMC7812281

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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