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  ClC-K chloride channels: Emerging pathophysiology of Bartter syndrome type 3.

Andrini, O., Keck, M., Briones, R., Lourdel, S., Vargas-Poussou, R., & Teulon, J. (2015). ClC-K chloride channels: Emerging pathophysiology of Bartter syndrome type 3. American Journal of Physiology-Renal Physiology, 308(12), F1324-F1334. doi:10.1152/ajprenal.00004.2015.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0027-BB54-4 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-605B-9
Genre: Journal Article

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 Creators:
Andrini, O., Author
Keck, M., Author
Briones, R.1, Author              
Lourdel, S., Author
Vargas-Poussou, R., Author
Teulon, J., Author
Affiliations:
1Research Group of Computational Biomolecular Dynamics, MPI for biophysical chemistry, Max Planck Society, ou_578573              

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Free keywords: Bartter syndrome; CLC family of chloride transporters and channels; chloride
 Abstract: The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism, but Bartter syndrome type 3 has the most heterogeneous presentation, extending from severe to very mild. A relatively large number of CLCNKB mutations have been reported, including gene deletions and nonsense or missense mutations. However, only 20 CLCNKB mutations have been functionally analyzed, due to technical difficulties regarding ClC-Kb functional expression in heterologous systems. This review provides an overview of recent progress in the functional consequences of CLCNKB mutations on ClC-Kb chloride channel activity. It has been observed that 1) all ClC-Kb mutants have an impaired expression at the membrane; and 2) a minority of the mutants combines reduced membrane expression with altered pH-dependent channel gating. Although further investigation is needed to fully characterize disease pathogenesis, Bartter syndrome type 3 probably belongs to the large family of conformational diseases, in which the mutations destabilize channel structure, inducing ClC-Kb retention in the endoplasmic reticulum and accelerated channel degradation.

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Language(s): eng - English
 Dates: 2015-06-15
 Publication Status: Published online
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1152/ajprenal.00004.2015
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Title: American Journal of Physiology-Renal Physiology
Source Genre: Journal
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Pages: - Volume / Issue: 308 (12) Sequence Number: - Start / End Page: F1324 - F1334 Identifier: -