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 …

Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine

MJ Greenberg, JC Tardiff - Journal of General Physiology, 2021 - rupress.org
Genetic cardiomyopathies have been studied for decades, and it has become increasingly
clear that these progressive diseases are more complex than originally thought. These …

Structure and dynamics of endogenous cardiac troponin complex in human heart tissue captured by native nanoproteomics

EA Chapman, DS Roberts, TN Tiambeng… - Nature …, 2023 - nature.com
Protein complexes are highly dynamic entities that display substantial diversity in their
assembly, post-translational modifications, and non-covalent interactions, allowing them to …

Tri-modal regulation of cardiac muscle relaxation; intracellular calcium decline, thin filament deactivation, and cross-bridge cycling kinetics

BJ Biesiadecki, JP Davis, MT Ziolo, PML Janssen - Biophysical reviews, 2014 - Springer
Cardiac muscle relaxation is an essential step in the cardiac cycle. Even when the
contraction of the heart is normal and forceful, a relaxation phase that is too slow will limit …

Disrupted mechanobiology links the molecular and cellular phenotypes in familial dilated cardiomyopathy

SR Clippinger, PE Cloonan… - Proceedings of the …, 2019 - National Acad Sciences
Familial dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death and a
major indicator for heart transplant. The disease is frequently caused by mutations of …

Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy

A Moreau, P Gosselin-Badaroudine… - Journal of General …, 2015 - rupress.org
The gating pore current, also called omega current, consists of a cation leak through the
typically nonconductive voltage-sensor domain (VSD) of voltage-gated ion channels …

Biophysics, pathophysiology, and pharmacology of ion channel gating pores

A Moreau, P Gosselin-Badaroudine… - Frontiers in …, 2014 - frontiersin.org
Voltage sensor domains (VSDs) are a feature of voltage gated ion channels (VGICs) and
voltage sensitive proteins. They are composed of four transmembrane (TM) segments (S1 …

Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility

Y Cheng, M Regnier - Archives of biochemistry and biophysics, 2016 - Elsevier
Cardiac troponin (cTn) acts as a pivotal regulator of muscle contraction and relaxation and is
composed of three distinct subunits (cTnC: a highly conserved Ca 2+ binding subunit, cTnI …

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 …

[HTML][HTML] Inherited cardiomyopathies caused by troponin mutations

QW Lu, XY Wu, S Morimoto - Journal of geriatric cardiology: JGC, 2013 - ncbi.nlm.nih.gov
Genetic investigations of cardiomyopathy in the recent two decades have revealed a large
number of mutations in the genes encoding sarcomeric proteins as a cause of inherited …