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Ion channels: function unravelled by dysfunction

Item Type:Review
Title:Ion channels: function unravelled by dysfunction
Creators Name:Jentsch, T.J., Huebner, C.A. and Fuhrmann, J.C.
Abstract:Ion channels allow the passage of specific ions and electrical charge. Plasma membrane channels are, for example, important for electrical excitability and transepithelial transport, whereas intracellular channels have roles in acidifying endosomes or in releasing Ca(2+) from stores. The function of several channels emerged from mutations in humans or mice. The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, cardiac arrhythmias, neurological diseases like epilepsy or deafness and even 'developmental' defects such as osteopetrosis.
Keywords:Biological Transport, Endocytosis, Endosomes, Hydrogen-Ion Concentration, Ion Channels, Mutation, Animals
Source:Nature Cell Biology
Publisher:Nature Publishing Group
Page Range:1039-1047
Date:November 2004
Official Publication:https://doi.org/10.1038/ncb1104-1039
PubMed:View item in PubMed

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