Channelopathies of transepithelial transport and vesicular function.
The transport of ions across cellular membranes is crucial for various functions, including the transport of salt and water across epithelia, the control of electrical excitability of muscle and nerve, and the regulation of cell volume or the acidification and ionic homeostasis of intracellular organelles. This review will focus on ion channel diseases (channelopathies) that are due to impaired transepithelial transport or due to mutations in vesicular ion transporters or channels. When needed for a more comprehensive understanding of organ function, also other ion transport diseases will be mentioned.
Hübner
Christian A
CA
Department of Clinical Chemistry, University Hospital of the Friedrich-Schiller-Universität, Erlanger Allee 101, D-07747 Jena, Germany.
Jentsch
Thomas J
TJ
FMP (Leibniz-Institut für Molekulare Pharmakologie) and MDC (Max-Delbrück-Centrum für Molekulare Medizin), Robert-Rössle-Strasse 10, D-13125 Berlin, Germany.
D000818:Animals; D001692:Biological Transport; D053447:Channelopathies / Q000150:complications / Q000378:metabolism* / Q000503:physiopathology; D004847:Epithelial Cells / Q000378:metabolism*; D006801:Humans; D007668:Kidney / Q000503:physiopathology; D022161:Transport Vesicles / Q000378:metabolism*