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The Crossroad of Ion Channels and Calmodulin in Disease.


ABSTRACT: Calmodulin (CaM) is the principal Ca2+ sensor in eukaryotic cells, orchestrating the activity of hundreds of proteins. Disease causing mutations at any of the three genes that encode identical CaM proteins lead to major cardiac dysfunction, revealing the importance in the regulation of excitability. In turn, some mutations at the CaM binding site of ion channels cause similar diseases. Here we provide a summary of the two sides of the partnership between CaM and ion channels, describing the diversity of consequences of mutations at the complementary CaM binding domains.

SUBMITTER: Urrutia J 

PROVIDER: S-EPMC6359610 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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The Crossroad of Ion Channels and Calmodulin in Disease.

Urrutia Janire J   Aguado Alejandra A   Muguruza-Montero Arantza A   Núñez Eider E   Malo Covadonga C   Casis Oscar O   Villarroel Alvaro A  

International journal of molecular sciences 20190118 2


Calmodulin (CaM) is the principal Ca<sup>2+</sup> sensor in eukaryotic cells, orchestrating the activity of hundreds of proteins. Disease causing mutations at any of the three genes that encode identical CaM proteins lead to major cardiac dysfunction, revealing the importance in the regulation of excitability. In turn, some mutations at the CaM binding site of ion channels cause similar diseases. Here we provide a summary of the two sides of the partnership between CaM and ion channels, describi  ...[more]

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