Associated Papers
Heterogeneous Dysregulation of Myosin Super-Relaxation and Energetics in Hypertrophic Cardiomyopathy.
Ochala J et al.
Circulation. Heart Failure, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Mechanistic basis for rescuing hypertrophic cardiomyopathy with myosin regulatory light chain phosphorylation.
Liang J et al.
Cytoskeleton (hoboken, N.j.), 2024
Gene Therapy in Cardiology: Is a Cure for Hypertrophic Cardiomyopathy on the Horizon?
Paratz ED et al.
The Canadian Journal of Cardiology, 2024
Phosphorylation Mimetic of Myosin Regulatory Light Chain Mitigates Cardiomyopathy-Induced Myofilament Impairment in Mouse Models of RCM and DCM.
Kazmierczak K et al.
Life (basel, Switzerland), 2023
Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.
Yuan CC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Functional comparison of phosphomimetic S15D and T160D mutants of myosin regulatory light chain exchanged in cardiac muscle preparations of HCM and WT mice.
Kazmierczak K et al.
Frontiers in Cardiovascular Medicine, 2022
Hypertrophic cardiomyopathy associated E22K mutation in myosin regulatory light chain decreases calcium-activated tension and stiffness and reduces myofilament Ca2+ sensitivity.
Zhang J et al.
The Febs Journal, 2021
Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.
Sitbon YH et al.
Journal of Muscle Research and Cell Motility, 2020
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.
De Bortoli M et al.
Circulation. Genomic and Precision Medicine, 2020
The co-segregation of the MYL2 R58Q mutation in Chinese hypertrophic cardiomyopathy family and its pathological effect on cardiomyopathy disarray.
Yin K et al.
Molecular Genetics and Genomics : Mgg, 2019
Therapeutic potential of AAV9-S15D-RLC gene delivery in humanized MYL2 mouse model of HCM.
Yadav S et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.
Yadav S et al.
Pflugers Archiv : European Journal of Physiology, 2019
Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
Kazmierczak K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain.
Yadav S et al.
The Febs Journal, 2019
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Rani DS et al.
Cardiology, 2018
Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.
Yadav S et al.
Biophysical Reviews, 2017
Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.
Huang W et al.
Archives of Biochemistry and Biophysics, 2016
Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants.
Zhou Z et al.
Frontiers in Physiology, 2016
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations.
Huang W et al.
Journal of Muscle Research and Cell Motility, 2015
Myosin regulatory light chain phosphorylation enhances cardiac β-myosin in vitro motility under load.
Karabina A et al.
Archives of Biochemistry and Biophysics, 2015
Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.
Huang W et al.
The Febs Journal, 2015
Getting the skinny on thick filament regulation in cardiac muscle biology and disease.
Sheikh F et al.
Trends in Cardiovascular Medicine, 2014
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
Weterman MA et al.
Brain : a Journal of Neurology, 2013
The effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse hearts.
Muthu P et al.
Journal of Cellular and Molecular Medicine, 2012
Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice.
Kazmierczak K et al.
The Biochemical Journal, 2012
In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.
Harris SP et al.
Circulation Research, 2011
Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.
Landstrom AP et al.
Circulation, 2010
Single molecule kinetics in the familial hypertrophic cardiomyopathy D166V mutant mouse heart.
Muthu P et al.
Journal of Molecular and Cellular Cardiology, 2010
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
Szczesna-Cordary D et al.
Journal of Cell Science, 2005