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Chloride channel diseases resulting from impaired transepithelial transport or vesicular function

Item Type:Review
Title:Chloride channel diseases resulting from impaired transepithelial transport or vesicular function
Creators Name:Jentsch, T.J. and Maritzen, T. and Zdebik, A.A.
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.
Keywords:Chloride Channels, Cytoplasmic Vesicles, Epithelium, Inborn Genetic Diseases, Ion Transport, Animals
Source:Journal of Clinical Investigation
ISSN:0021-9738
Publisher:American Society for Clinical Investigation (U.S.A.)
Volume:115
Number:8
Page Range:2039-2046
Date:August 2005
Official Publication:https://doi.org/10.1172/JCI25470
PubMed:View item in PubMed

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