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Cardiac disorders and pathophysiology of sarcomeric proteins
J van der Velden, GJM Stienen - Physiological reviews, 2019 - journals.physiology.org
The sarcomeric proteins represent the structural building blocks of heart muscle, which are
essential for contraction and relaxation. During recent years, it has become evident that …
essential for contraction and relaxation. During recent years, it has become evident that …
Troponin through the looking-glass: emerging roles beyond regulation of striated muscle contraction
Troponin is a heterotrimeric Ca2+-binding protein that has a well-established role in
regulating striated muscle contraction. However, mounting evidence points to novel cellular …
regulating striated muscle contraction. However, mounting evidence points to novel cellular …
[HTML][HTML] Hypertrophic cardiomyopathy mutations increase myofilament Ca2+ buffering, alter intracellular Ca2+ handling, and stimulate Ca2+-dependent signaling
P Robinson, X Liu, A Sparrow, S Patel… - Journal of Biological …, 2018 - Elsevier
Mutations in thin filament regulatory proteins that cause hypertrophic cardiomyopathy (HCM)
increase myofilament Ca 2+ sensitivity. Mouse models exhibit increased Ca 2+ buffering …
increase myofilament Ca 2+ sensitivity. Mouse models exhibit increased Ca 2+ buffering …
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the
heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal …
heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal …
[HTML][HTML] Sarcospan deficiency increases oxidative stress and arrhythmias in hearts after acute ischemia-reperfusion injury
HS Hwang, AR Kahmini, J Prascak… - International Journal of …, 2023 - mdpi.com
The protein sarcospan (SSPN) is an integral member of the dystrophin-glycoprotein complex
(DGC) and has been shown to be important in the heart during the development and the …
(DGC) and has been shown to be important in the heart during the development and the …
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes
Introduction Troponin (TNN)-encoded cardiac troponins (Tn) are critical for sensing calcium
and triggering myofilament contraction. TNN variants are associated with development of …
and triggering myofilament contraction. TNN variants are associated with development of …
Rationally engineered Troponin C modulates in vivo cardiac function and performance in health and disease
V Shettigar, B Zhang, SC Little, HE Salhi… - Nature …, 2016 - nature.com
Abstract Treatment for heart disease, the leading cause of death in the world, has
progressed little for several decades. Here we develop a protein engineering approach to …
progressed little for several decades. Here we develop a protein engineering approach to …
Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2
Hypertrophic cardiomyopathy (HCM) is triggered mainly by mutations in genes encoding
sarcomeric proteins, but a significant proportion of patients lack a genetic diagnosis. We …
sarcomeric proteins, but a significant proportion of patients lack a genetic diagnosis. We …
[HTML][HTML] The effect of variable troponin C mutation thin filament incorporation on cardiac muscle twitch contractions
SM Mijailovich, M Prodanovic, C Poggesi… - Journal of molecular and …, 2021 - Elsevier
One of the complexities of understanding the pathology of familial forms of cardiac diseases
is the level of mutation incorporation in sarcomeres. Computational models of the sarcomere …
is the level of mutation incorporation in sarcomeres. Computational models of the sarcomere …
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations
CM Stevens, K Rayani, G Singh, B Lotfalisalmasi… - Journal of Biological …, 2017 - jbc.org
Cardiac troponin C (cTnC) is the regulatory protein that initiates cardiac contraction in
response to Ca 2+. TnC binding Ca 2+ initiates a cascade of protein–protein interactions …
response to Ca 2+. TnC binding Ca 2+ initiates a cascade of protein–protein interactions …