title: Chloride channelopathies.
abstract: Channelopathies, defined as diseases that are caused by mutations in genes encoding ion channels, are associated with a wide variety of symptoms. Impaired chloride transport can cause diseases as diverse as cystic fibrosis, myotonia, epilepsy, hyperekplexia, lysosomal storage disease, deafness, renal salt loss, kidney stones and osteopetrosis. These disorders are caused by mutations in genes belonging to non-related gene families, i.e. CLC chloride channels and transporters, ABC transporters, and GABA- and glycine receptors. Diseases due to mutations in TMEM16E and bestrophin 1 might be due to a loss of Ca++-activated Cl- channels, although this remains to be shown.
authors.affiliation: Centro de Investigación Príncipe Felipe, Valencia, Spain. rplanells@ochoa.fib.es
authors.forename: Rosa
authors.initials: R
authors.lastname: Planells-Cases
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Jentsch
mesh_terms: D000818:Animals; D000075002:Bestrophins; D053447:Channelopathies / Q000503:physiopathology*; D018118:Chloride Channels / Q000235:genetics / Q000378:metabolism*; D002712:Chlorides / Q000378:metabolism*; D003550:Cystic Fibrosis / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D004827:Epilepsy / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009222:Myotonia / Q000503:physiopathology; D011963:Receptors, GABA-A / Q000235:genetics / Q000378:metabolism; D018009:Receptors, Glycine / Q000235:genetics / Q000378:metabolism
chemical_list: C113133:BEST1 protein, human; C440005:BSND protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D002712:Chlorides; D005136:Eye Proteins; D011963:Receptors, GABA-A; D018009:Receptors, Glycine; D019005:Cystic Fibrosis Transmembrane Conductance Regulator