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 …

[HTML][HTML] Troponin through the looking-glass: emerging roles beyond regulation of striated muscle contraction

JR Johnston, PB Chase, JR Pinto - Oncotarget, 2018 - ncbi.nlm.nih.gov
Troponin is a heterotrimeric Ca 2+-binding protein that has a well-established role in
regulating striated muscle contraction. However, mounting evidence points to novel cellular …

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 …

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 - ASBMB
Mutations in thin filament regulatory proteins that cause hypertrophic cardiomyopathy (HCM)
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

F Girolami, G Frisso, M Benelli, L Crotti… - Journal of …, 2018 - journals.lww.com
Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the
heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal …

Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes

HJ Tadros, CS Life, G Garcia, E Pirozzi… - Journal of molecular and …, 2020 - Elsevier
Introduction Troponin (TNN)-encoded cardiac troponins (Tn) are critical for sensing calcium
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 …

[HTML][HTML] Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2

FJ Alvarado, JM Bos, Z Yuchi, CR Valdivia… - JCI insight, 2019 - ncbi.nlm.nih.gov
Hypertrophic cardiomyopathy (HCM) is triggered mainly by mutations in genes encoding
sarcomeric proteins, but a significant proportion of patients lack a genetic diagnosis. We …

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 - ASBMB
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 …

[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 …