Article
Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation.
The FEBS journal - 1 Apr 2005
Vang Søren, Corydon Thomas J, Børglum Anders D, Scott Melissa D, Frydman Judith, Mogensen Jens, Gregersen Niels, Bross Peter
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common hereditary cardiac conditions. Both are frequent causes of sudden death and are often associated with an adverse disease course. Alpha-cardiac actin is one of the disease genes where different missense mutations have been found to cause either HCM or DCM. We have tested the hypothesis that the protein-folding pathway plays a...
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