Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C

SB Tikunova, J Thuma, JP Davis - International journal of molecular …, 2023 - mdpi.com
Cardiac muscle contraction is regulated via Ca2+ exchange with the hetero-trimeric troponin
complex located on the thin filament. Binding of Ca2+ to cardiac troponin C, a Ca2+ sensing …

Cardiomyocyte dysfunction in inherited cardiomyopathies

R Hassoun, H Budde, A Mügge… - International Journal of …, 2021 - mdpi.com
Inherited cardiomyopathies form a heterogenous group of disorders that affect the structure
and function of the heart. Defects in the genes encoding sarcomeric proteins are associated …

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 …

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 …

The intrinsically disordered C terminus of troponin T binds to troponin C to modulate myocardial force generation

JR Johnston, M Landim-Vieira, MA Marques… - Journal of Biological …, 2019 - ASBMB
Aberrant regulation of myocardial force production represents an early biomechanical defect
associated with sarcomeric cardiomyopathies, but the molecular mechanisms remain poorly …

Structural and functional impact of troponin C-mediated Ca2+ sensitization on myofilament lattice spacing and cross-bridge mechanics in mouse cardiac muscle

D Gonzalez-Martinez, JR Johnston… - Journal of molecular and …, 2018 - Elsevier
Acto-myosin cross-bridge kinetics are important for beat-to-beat regulation of cardiac
contractility; however, physiological and pathophysiological mechanisms for regulation of …

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C

TR Reinoso, M Landim-Vieira, Y Shi… - Journal of muscle …, 2021 - Springer
Familial cardiomyopathy is an inherited disease that affects the structure and function of
heart muscle and has an extreme range of phenotypes. Among the millions of affected …

Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants

M Landim-Vieira, JR Johnston, W Ji, EK Mis… - Frontiers in …, 2020 - frontiersin.org
Familial dilated cardiomyopathy (DCM), clinically characterized by enlargement and
dysfunction of one or both ventricles of the heart, can be caused by variants in sarcomeric …

Amide hydrogens reveal a temperature-dependent structural transition that enhances site-II Ca2+-binding affinity in a C-domain mutant of cardiac troponin C

T Veltri, GAP de Oliveira, EA Bienkiewicz, FL Palhano… - Scientific reports, 2017 - nature.com
The hypertrophic cardiomyopathy-associated mutant D145E, in cardiac troponin C (cTnC) C-
domain, causes generalised instability at multiple sites in the isolated protein. As a result …

Hypertrophic cardiomyopathy cardiac troponin C mutations differentially affect slow skeletal and cardiac muscle regulation

T Veltri, M Landim-Vieira, MS Parvatiyar… - Frontiers in …, 2017 - frontiersin.org
Mutations in TNNC1—the gene encoding cardiac troponin C (cTnC)—that have been
associated with hypertrophic cardiomyopathy (HCM) and cardiac dysfunction may also affect …