Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
RH Willott, AV Gomes, AN Chang, MS Parvatiyar… - Journal of molecular and …, 2010 - Elsevier
Troponin (Tn) is a critical regulator of muscle contraction in cardiac muscle. Mutations in Tn
subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies …
subunits are associated with hypertrophic, dilated and restrictive cardiomyopathies …
Genetics of inherited cardiomyopathy
D Jacoby, WJ McKenna - European heart journal, 2012 - academic.oup.com
During the past two decades, numerous disease-causing genes for different
cardiomyopathies have been identified. These discoveries have led to better understanding …
cardiomyopathies have been identified. These discoveries have led to better understanding …
Top-down quantitative proteomics identified phosphorylation of cardiac troponin I as a candidate biomarker for chronic heart failure
The rapid increase in the prevalence of chronic heart failure (CHF) worldwide underscores
an urgent need to identify biomarkers for the early detection of CHF. Post-translational …
an urgent need to identify biomarkers for the early detection of CHF. Post-translational …
Sarcomeric proteins and inherited cardiomyopathies
S Morimoto - Cardiovascular research, 2008 - academic.oup.com
Over the last two decades, a large number of mutations have been identified in sarcomeric
proteins as a cause of hypertrophic, dilated or restrictive cardiomyopathy. Functional …
proteins as a cause of hypertrophic, dilated or restrictive cardiomyopathy. Functional …
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
Background: Restrictive cardiomyopathy (RCM) is rare in childhood, but has a grave
prognosis. The cause of disease in most cases is unknown. Objective: To determine the …
prognosis. The cause of disease in most cases is unknown. Objective: To determine the …
Cardiac sarcomere signaling in health and disease
The cardiac sarcomere is a triumph of biological evolution wherein myriad contractile and
regulatory proteins assemble into a quasi-crystalline lattice to serve as the central point …
regulatory proteins assemble into a quasi-crystalline lattice to serve as the central point …
Genetic restrictive cardiomyopathy: causes and consequences—an integrative approach
D Cimiotti, H Budde, R Hassoun, K Jaquet - International Journal of …, 2021 - mdpi.com
The sarcomere as the smallest contractile unit is prone to alterations in its functional,
structural and associated proteins. Sarcomeric dysfunction leads to heart failure or …
structural and associated proteins. Sarcomeric dysfunction leads to heart failure or …
Effects of thin and thick filament proteins on calcium binding and exchange with cardiac troponin C
Understanding the effects of thin and thick filament proteins on the kinetics of Ca 2+
exchange with cardiac troponin C is essential to elucidating the Ca 2+-dependent …
exchange with cardiac troponin C is essential to elucidating the Ca 2+-dependent …
Genetic insights into primary restrictive cardiomyopathy
A Brodehl, B Gerull - Journal of Clinical Medicine, 2022 - mdpi.com
Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction,
ventricular stiffness and dilated atria. In consequence, it induces heart failure often with …
ventricular stiffness and dilated atria. In consequence, it induces heart failure often with …
[HTML][HTML] Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling
M Chintanaphol, BO Orgil, NR Alberson… - Reviews in …, 2022 - imrpress.com
Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is
characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial …
characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial …