Review abstract
Nature Cell Biology 6, 1039 - 1047 (2004)
doi:10.1038/ncb1104-1039
Ion channels: Function unravelled by dysfunction
Thomas J. Jentsch1, Christian A. Hübner2 & Jens C. Fuhrmann1
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 Ca2+ 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.
- Thomas J. Jentsch and Jens C. Fuhrmann are at the Zentrum für Molekulare Neurobiologie, Universität Hamburg, Falkenried 94, D-20246 Hamburg, Germany
-
Christian A. Hübner is at the Zentrum für Molekulare Neurobiologie, Universität Hamburg, Falkenried 94, D-20246 Hamburg, Germany and the Institut für Humangenetik, Universitätsklinik Eppendorf, Martinstra
e 52, D-20252 Hamburg, Germany.
Correspondence to: Thomas J. Jentsch1 e-mail: jentsch@zmnh.uni-hamburg.de
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