Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics
Sign Up to like & getrecommendations! Published in 2020 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2006764117
Abstract: Significance Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease and a leading cause of sudden cardiac death in young adults. HCM has been linked to mutations in genes encoding sarcomeric proteins, but how different… read more here.
Keywords: sarcomeric proteins; hcm patients; hypertrophic cardiomyopathy; hcm ... See more keywords
Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms19082234
Abstract: About half of hypertrophic and dilated cardiomyopathies cases have been recognized as genetic diseases with mutations in sarcomeric proteins. The sarcomeric proteins are involved in cardiomyocyte contractility and its regulation, and play a structural role.… read more here.
Keywords: heart; cardiomyopathies related; sarcomeric proteins; heart muscle ... See more keywords