Ion channels: Function unravelled by dysfunction
- 1 November 2004
- journal article
- review article
- Published by Springer Nature in Nature Cell Biology
- Vol. 6 (11) , 1039-1047
- https://doi.org/10.1038/ncb1104-1039
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.Keywords
This publication has 96 references indexed in Scilit:
- Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsiesPhysiological Genomics, 2004
- Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal DiabetesNew England Journal of Medicine, 2004
- Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathyAnnals of Neurology, 2004
- Human Hypertension Caused by Mutations in WNK KinasesScience, 2001
- Golgi Localization and Functionally Important Domains in the NH2 and COOH Terminus of the Yeast CLC Putative Chloride Channel Gef1pJournal of Biological Chemistry, 1998
- Mutations in the hminK gene cause long QT syndrome and suppress lKs functionNature Genetics, 1997
- Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancyHuman Molecular Genetics, 1996
- Cystic Fibrosis Airway Epithelia Fail to Kill Bacteria Because of Abnormal Airway Surface FluidCell, 1996
- A calcium channel mutation causing hypokalemic periodic paralysisHuman Molecular Genetics, 1994
- Sodium channel mutations in paramyotonia congenita uncouple inactivation from activationNeuron, 1994