Small molecules restore the function of mutant CLC5 associated with Dent disease.
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ABSTRACT:
SUBMITTER: Liu J
PROVIDER: S-EPMC7812281 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
Small molecules restore the function of mutant CLC5 associated with Dent disease.
Liu Jingshu J Sadeh Tal T TT Lippiat Jonathan D JD Thakker Rajesh V RV Black Graeme C GC Manson Forbes F
Journal of cellular and molecular medicine 20201116 2
Dent disease type 1 is caused by mutations in the CLCN5 gene that encodes CLC5, a 2Cl<sup>-</sup> /H<sup>+</sup> 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 expression by whole-cell patch-clamp and Western blot, respectively. ...[more]
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