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 …

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 …

Top-down quantitative proteomics identified phosphorylation of cardiac troponin I as a candidate biomarker for chronic heart failure

J Zhang, MJ Guy, HS Norman, YC Chen… - Journal of proteome …, 2011 - ACS Publications
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 …

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 …

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

JP Kaski, P Syrris, M Burch, MT Tome-Esteban… - Heart, 2008 - heart.bmj.com
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 …

Cardiac sarcomere signaling in health and disease

AA Martin, BR Thompson, D Hahn… - International journal of …, 2022 - mdpi.com
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 …

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 …

Effects of thin and thick filament proteins on calcium binding and exchange with cardiac troponin C

JP Davis, C Norman, T Kobayashi, RJ Solaro… - Biophysical journal, 2007 - cell.com
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 …

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 …

[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 …