From molecule to malady.

Frances M Ashcroft

doi:10.1038/nature04707

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PubMed · 16554803

From molecule to malady.

Frances M Ashcroft

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Abstract

Ion channels are membrane proteins, found in virtually all cells, that are of crucial physiological importance. In the past decade, an explosion in the number of crystal structures of ion channels has led to a marked increase in our understanding of how ion channels open and close, and select between permeant ions. There has been a parallel advance in research on channelopathies (diseases resulting from impaired channel function), and mutations in over 60 ion-channel genes are now known to cause human disease. Characterization of their functional consequences has afforded unprecedented and unexpected insights into ion-channel mechanisms and physiological roles.

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Animals Genetic Diseases, Inborn Humans Ion Channel Gating Ion Channels Mutation Protein Conformation Protein Subunits Journal Article Research Support, Non-U.S. Gov't Review

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Frances M Ashcroft. 2006-03-23. From molecule to malady.. https://doi.org/10.1038/nature04707

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