Clack, Aaron Ian 2010. Investigating the functional consequences of cardiac ryanodine receptor (RyR2) polymorphisms on arrhythmia-linked Ca2+ release dysfunction. PhD Thesis, Cardiff University. |
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Abstract
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.
Item Type: | Thesis (PhD) |
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Status: | Unpublished |
Schools: | Medicine |
Subjects: | R Medicine > RC Internal medicine |
Funders: | Contica |
Date of First Compliant Deposit: | 30 March 2016 |
Last Modified: | 09 Jan 2018 23:42 |
URI: | https://orca.cardiff.ac.uk/id/eprint/54155 |
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