Review Article | Published:

From molecule to malady

Nature volume 440, pages 440447 (23 March 2006) | Download Citation

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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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Acknowledgements

I thank C. Miller and M. Sansom for comments and criticisms on earlier versions of this review. Work in my laboratory is supported by grants from the Royal Society, the Wellcome Trust and the European Union (BioSim and EuroDia).

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Affiliations

  1. University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK. frances.ashcroft@physiol.ox.ac.uk

    • Frances M. Ashcroft

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The author declares no competing financial interests.

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https://doi.org/10.1038/nature04707

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