Mechanical and energetic consequences of HCM-causing mutations (Q37766181)

22 August 2017

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title

Mechanical and energetic consequences of HCM-causing mutations (English)

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22 August 2017

Cecilia Ferrantini

1

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22 August 2017

Alexandra Belus

2

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22 August 2017

Nicoletta Piroddi

3

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22 August 2017

Beatrice Scellini

4

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22 August 2017

Chiara Tesi

5

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22 August 2017

Corrado Poggesi

6

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22 August 2017

language of work or name

English

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publication date

9 October 2009

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22 August 2017

11

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Journal of Cardiovascular Translational Research

inferred from page(s)

published in

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22 August 2017

2

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22 August 2017

4

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22 August 2017

441-451

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https://scigraph.springernature.com/pub.10.1007/s12265-009-9131-8

22 August 2017

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cites work

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Effect of extraction of myosin binding protein C on contractility of rat heart.

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Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein

21 January 2018

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A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

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The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils

21 January 2018

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Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice.

21 January 2018

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12 December 2020

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

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First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

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Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

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Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

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12 December 2020

Insights into the kinetics of Ca2+-regulated contraction and relaxation from myofibril studies

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12 December 2020

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

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Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

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Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy

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Sarcomeric determinants of striated muscle relaxation kinetics

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Relaxation kinetics following sudden Ca(2+) reduction in single myofibrils from skeletal muscle

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12 December 2020

Alterations in Ca2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

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Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

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12 December 2020

Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone

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12 December 2020

Regulation of force and unloaded sliding speed in single thin filaments: effects of regulatory proteins and calcium

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12 December 2020

R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level

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Differential effect of DPI 201-106 on the sensitivity of the myofilaments to Ca2+ in intact and skinned trabeculae from control and myopathic human hearts

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Myocardial contraction is 5-fold more economical in ventricular than in atrial human tissue

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12 December 2020

Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy

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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

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12 December 2020

Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

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12 December 2020

Cardiomyocyte Stiffness in Diastolic Heart Failure

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Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function

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Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

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12 December 2020

Modulation of crossbridge kinetics by myosin isoenzymes in skinned human heart fibers

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From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene

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12 December 2020

Effect of Hypertrophic Cardiomyopathy Mutations in Human Cardiac Muscle α -tropomyosin (Asp175Asn and Glu180Gly) on the Regulatory Properties of Human Cardiac Troponin Determined by in vitro Motility Assay

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Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice

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The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

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The molecular genetic basis for hypertrophic cardiomyopathy

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12 December 2020

Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

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Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

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Heterologous expression of wild-type and mutant beta-cardiac myosin changes the contractile kinetics of cultured mouse myotubes

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12 December 2020

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

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12 December 2020

A mouse model of familial hypertrophic cardiomyopathy

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12 December 2020

Tension generation and relaxation in single myofibrils from human atrial and ventricular myocardium

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12 December 2020

Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy

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12 December 2020

Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

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12 December 2020

Myofibrillar calcium sensitivity of isometric tension is increased in human dilated cardiomyopathies: role of altered beta-adrenergically mediated protein phosphorylation

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12 December 2020

Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication

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12 December 2020

Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy

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12 December 2020

The effect of inorganic phosphate on force generation in single myofibrils from rabbit skeletal muscle

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12 December 2020

Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy

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12 December 2020

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype

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12 December 2020

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

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12 December 2020

Practical limits on the maximal speed of solution exchange for patch clamp experiments

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12 December 2020

Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy

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12 December 2020

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

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12 December 2020

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

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12 December 2020

Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction

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12 December 2020

Alterations of myocardial dynamic stiffness implicating abnormal crossbridge function in human mitral regurgitation heart failure

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12 December 2020

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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12 December 2020

Ca2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy.

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12 December 2020

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

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12 December 2020

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

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12 December 2020

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

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12 December 2020

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

1 reference

12 December 2020

R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts

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12 December 2020

Effects of calcium, inorganic phosphate, and pH on isometric force in single skinned cardiomyocytes from donor and failing human hearts

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12 December 2020

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

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12 December 2020

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments

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12 December 2020

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction

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12 December 2020

Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy

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12 December 2020

Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome

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12 December 2020

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

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12 December 2020

The Genetic Basis for Cardiomyopathy

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12 December 2020

10.1007/S12265-009-9131-8

Identifiers

DOI

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22 August 2017

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