Investigating the functional consequences of cardiac ryanodine receptor (RyR2) polymorphisms on arrhythmia-linked Ca2+ release dysfunction
This data provides compelling evidence that mutation-linked RyR2 channel dysfunction is modulated by common sequence polymorphisms and predicts that a more severe clinical phenotype results from the in cis inheritance of G1885E / L433P. Our studies also show that co-expression of L433P and G1885E su...
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Cardiff University
2010
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.584803 |
| Summary: | This data provides compelling evidence that mutation-linked RyR2 channel dysfunction is modulated by common sequence polymorphisms and predicts that a more severe clinical phenotype results from the in cis inheritance of G1885E / L433P. Our studies also show that co-expression of L433P and G1885E subunits partially restores the functionality of the resultant heterotetrameric channels. The potential therapeutic benefits of positively modulating RyR2 mutant channel dysfunction via such a trans-complementation approach remain to be explored. |
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