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

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...

Full description

Bibliographic Details
Main Authors: Dalila Sahbani, Bice Strumbo, Silvana Tedeschi, Elena Conte, Giulia Maria Camerino, Elisa Benetti, Giovanni Montini, Gabriella Aceto, Giuseppe Procino, Paola Imbrici, Antonella Liantonio
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Pharmacology
Subjects:
Bartter’s syndrome
barttin
kidney chloride channels
patch clamp
pharmacology
Online Access:https://www.frontiersin.org/article/10.3389/fphar.2020.00327/full

Internet

https://www.frontiersin.org/article/10.3389/fphar.2020.00327/full

Similar Items