Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

Type III and IV Bartter syndromes (BS) are rare kidney tubulopathies caused by loss-of-function mutations in the CLCNKB and BSND genes coding respectively for the ClC-Kb chloride channels and accessory subunit barttin. ClC-K channels are expressed in the Henle’s loop, distal convoluted tubule, and c...

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Detalles Bibliográficos
Autores principales: Sahbani, Dalila, Strumbo, Bice, Tedeschi, Silvana, Conte, Elena, Camerino, Giulia Maria, Benetti, Elisa, Montini, Giovanni, Aceto, Gabriella, Procino, Giuseppe, Imbrici, Paola, Liantonio, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092721/
https://www.ncbi.nlm.nih.gov/pubmed/32256370
http://dx.doi.org/10.3389/fphar.2020.00327

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