Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology

L Carrier, G Mearini, K Stathopoulou, F Cuello - Gene, 2015 - Elsevier
More than 350 individual MYPBC3 mutations have been identified in patients with inherited
hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations …

Small angle X-ray diffraction as a tool for structural characterization of muscle disease

W Ma, TC Irving - International Journal of Molecular Sciences, 2022 - mdpi.com
Small angle X-ray fiber diffraction is the method of choice for obtaining molecular level
structural information from striated muscle fibers under hydrated physiological conditions …

Under construction: The dynamic assembly, maintenance, and degradation of the cardiac sarcomere

TG Martin, JA Kirk - Journal of Molecular and Cellular Cardiology, 2020 - Elsevier
The sarcomere is the basic contractile unit of striated muscle and is a highly ordered protein
complex with the actin and myosin filaments at its core. Assembling the sarcomere …

Regulation of contraction by the thick filaments in skeletal muscle

M Irving - Biophysical journal, 2017 - cell.com
Contraction of skeletal muscle cells is initiated by a well-known signaling pathway. An action
potential in a motor nerve triggers an action potential in a muscle cell membrane, a transient …

An update on MYBPC3 gene mutation in hypertrophic cardiomyopathy

BS Tudurachi, A Zăvoi, A Leonte, L Țăpoi… - International journal of …, 2023 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited
cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of …

Myosin binding protein-C activates thin filaments and inhibits thick filaments in heart muscle cells

T Kampourakis, Z Yan, M Gautel… - Proceedings of the …, 2014 - National Acad Sciences
Myosin binding protein-C (MyBP-C) is a key regulatory protein in heart muscle, and
mutations in the MYBPC3 gene are frequently associated with cardiomyopathy. However …

Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM

JM Pioner, G Vitale, S Steczina, M Langione… - Circulation …, 2023 - Am Heart Assoc
Background: The pathogenesis of MYBPC3-associated hypertrophic cardiomyopathy (HCM)
is still unresolved. In our HCM patient cohort, a large and well-characterized population …

[HTML][HTML] Thick filament protein network, functions, and disease association

L Wang, J Geist, A Grogan, LYR Hu… - Comprehensive …, 2018 - ncbi.nlm.nih.gov
Sarcomeres consist of highly ordered arrays of thick myosin and thin actin filaments along
with accessory proteins. Thick filaments occupy the center of sarcomeres where they …

The genetic basis of hypertrophic cardiomyopathy in cats and humans

MD Kittleson, KM Meurs, SP Harris - Journal of Veterinary Cardiology, 2015 - Elsevier
Mutations in genes that encode for muscle sarcomeric proteins have been identified in
humans and two breeds of domestic cats with hypertrophic cardiomyopathy (HCM). This …

RBPMS2 is a myocardial-enriched splicing regulator required for cardiac function

AA Akerberg, M Trembley, V Butty… - Circulation …, 2022 - Am Heart Assoc
Background: RBPs (RNA-binding proteins) perform indispensable functions in the post-
transcriptional regulation of gene expression. Numerous RBPs have been implicated in …