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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.
Mots-clés : Life Sciences
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Journal articles
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Contributor : Hal Peer <>
Submitted on : Monday, July 12, 2010 - 12:39:19 PM
Last modification on : Friday, June 19, 2020 - 9:04:20 AM
Long-term archiving on: : Thursday, December 1, 2016 - 2:49:50 AM


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Rosa Planells-Cases, Thomas J. Jentsch. Chloride channelopathies. Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2009, 1792 (3), pp.173. ⟨10.1016/j.bbadis.2009.02.002⟩. ⟨hal-00501604⟩



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