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J Clin Invest. 2005 Aug;115(8):2039-46.

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.

Author information

1
Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Hamburg, Germany. Jentsch@zmnh.uni-hamburg.de

Abstract

The transport of anions across cellular membranes is crucial for various functions, including the control of electrical excitability of muscle and nerve, transport of salt and water across epithelia, and the regulation of cell volume or the acidification and ionic homeostasis of intracellular organelles. Given this broad range of functions, it is perhaps not surprising that mutations in Cl- channels lead to a large spectrum of diseases. These diverse pathologies include the muscle disorder myotonia, cystic fibrosis, renal salt loss in Bartter syndrome, kidney stones, deafness, and the bone disease osteopetrosis. This review will focus on diseases related to transepithelial transport and on disorders involving vesicular Cl- channels.

PMID:
16075045
PMCID:
PMC1180548
DOI:
10.1172/JCI25470
[Indexed for MEDLINE]
Free PMC Article

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