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

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‐phen...

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Detalles Bibliográficos
Autores principales: Liu, Jingshu, Sadeh, Tal T., Lippiat, Jonathan D., Thakker, Rajesh V., Black, Graeme C., Manson, Forbes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7812281/
https://www.ncbi.nlm.nih.gov/pubmed/33200471
http://dx.doi.org/10.1111/jcmm.16091