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Ion Channel Phosphorylopathy: a link between genomic variation and human disease.
Author(s) -
Gentile Saverio
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.913.35
Subject(s) - ion channel , mechanism (biology) , neurodegeneration , cytoplasm , kinase , channel (broadcasting) , disease , phosphorylation , biology , computational biology , genetics , medicine , computer science , physics , receptor , quantum mechanics , computer network
Many genomic variations that change amino acids in cytoplasmic domains of ion channels have been found to be associated with several diseases, including cardiac arrhythmias and neurodegeneration. However, a mechanism linking these mutations to ion channel malfunction has not been clearly established and in some cases is totally unknown. Our present work gives an overview on a possible mechanism by which disease‐associated mutations in cytoplasmic domains of several ion channels can affect current activity by creating or disrupting phosphorylation sites for specific kinases. We call these events “Ion Channel Phosphorylopathies”. Understanding Ion Channel Phosphorylopathies offers the opportunity to find a mechanism linking genomic variations to human disease and is crucial to the process of designing an effective pharmacological strategy.