Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs

MX Li, PM Hwang - Gene, 2015 - Elsevier
In striated muscle, the protein troponin complex turns contraction on and off in a calcium-
dependent manner. The calcium-sensing component of the complex is troponin C, which is …

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 …

[HTML][HTML] In vivo cardiovascular magnetic resonance diffusion tensor imaging shows evidence of abnormal myocardial laminar orientations and mobility in hypertrophic …

PF Ferreira, PJ Kilner, LA McGill… - Journal of …, 2014 - Elsevier
Background Cardiac diffusion tensor imaging (cDTI) measures the magnitudes and
directions of intramyocardial water diffusion. Assuming the cross-myocyte components to be …

Troponin structural dynamics in the native cardiac thin filament revealed by cryo electron microscopy

CM Risi, B Belknap, J Atherton, IL Coscarella… - Journal of Molecular …, 2024 - Elsevier
Cardiac muscle contraction occurs due to repetitive interactions between myosin thick and
actin thin filaments (TF) regulated by Ca 2+ levels, active cross-bridges, and cardiac myosin …

Genetics of hypertrophic cardiomyopathy

T Konno, S Chang, JG Seidman… - Current opinion in …, 2010 - journals.lww.com
The current repertoire of HCM genes allows effective gene-based diagnosis, information that
enables accurate assessment of disease risk in family members, and provides some insight …

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics

LK Keyt, JM Duran, QM Bui, C Chen… - Frontiers in …, 2022 - frontiersin.org
All muscle contraction occurs due to the cyclical interaction between sarcomeric thin and
thick filament proteins within the myocyte. The thin filament consists of the proteins actin …

Molecular genetics and pathogenesis of cardiomyopathy

A Kimura - Journal of human genetics, 2016 - nature.com
Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and
its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the …

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 …

S-nitrosylation of calcium-handling proteins in cardiac adrenergic signaling and hypertrophy

T Irie, PY Sips, S Kai, K Kida, K Ikeda, S Hirai… - Circulation …, 2015 - ahajournals.org
Rationale: The regulation of calcium (Ca2+) homeostasis by β-adrenergic receptor (βAR)
activation provides the essential underpinnings of sympathetic regulation of myocardial …

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 …