Article
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.
Journal of molecular and cellular cardiology - 1 Feb 2010
Debold Edward P, Saber Walid, Cheema Yaser, Bookwalter Carol S, Trybus Kathleen M, Warshaw David M, Vanburen Peter
Abstract excerpt
Two cardiomyopathic mutations were expressed in human cardiac actin, using a Baculovirus/insect cell system; E99K is associated with hypertrophic cardiomyopathy whereas R312H is associated with dilated cardiomyopathy. The hypothesis that the divergent phenotypes of these two cardiomyopathies are associated with fundamental differences in the molecular mechanics and thin filament regulation of the underlying actin...
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