(Q38584470)

4 September 2017

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

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4 September 2017

part of the series

Gene Wiki Review Series

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Konstantina Stathopoulou

3

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author name string

Lucie Carrier

1

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4 September 2017

Giulia Mearini

2

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4 September 2017

Friederike Cuello

4

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4 September 2017

language of work or name

English

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publication date

7 September 2015

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4 September 2017

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4 September 2017

volume

573

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4 September 2017

issue

2

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4 September 2017

page(s)

188-197

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Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C

4 September 2017

cites work

1 reference

12 December 2020

Myosin binding protein C, a phosphorylation-dependent force regulator in muscle that controls the attachment of myosin heads by its interaction with myosin S2

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12 December 2020

A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

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12 December 2020

Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C

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12 December 2020

Changes in cardiac contractility related to calcium-mediated changes in phosphorylation of myosin-binding protein C.

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12 December 2020

Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

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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

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy

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12 December 2020

Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

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12 December 2020

Loaded shortening, power output, and rate of force redevelopment are increased with knockout of cardiac myosin binding protein-C

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12 December 2020

Effect of MyBP-C binding to actin on contractility in heart muscle

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12 December 2020

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes

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12 December 2020

Cardiac myosin binding protein C: its role in physiology and disease

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12 December 2020

Regulation of alternative pre-mRNA splicing

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12 December 2020

Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

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12 December 2020

Binding of myosin binding protein-C to myosin subfragment S2 affects contractility independent of a tether mechanism

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12 December 2020

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

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12 December 2020

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

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12 December 2020

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

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12 December 2020

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

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12 December 2020

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

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12 December 2020

Cardiac myosin-binding protein-C phosphorylation and cardiac function

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12 December 2020

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

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12 December 2020

Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese

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12 December 2020

Length and protein kinase A modulations of myocytes in cardiac myosin binding protein C-deficient mice

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12 December 2020

Ablation of myosin-binding protein-C accelerates force development in mouse myocardium

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12 December 2020

Ablation of cardiac myosin-binding protein-C accelerates stretch activation in murine skinned myocardium

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12 December 2020

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

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12 December 2020

Oxidant-induced activation of type I protein kinase A is mediated by RI subunit interprotein disulfide bond formation

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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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12 December 2020

A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy

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12 December 2020

Effects of the N-terminal domains of myosin binding protein-C in an in vitro motility assay: Evidence for long-lived cross-bridges

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12 December 2020

Cardiac myosin binding protein C phosphorylation is cardioprotective

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12 December 2020

In vivo left ventricular functional capacity is compromised in cMyBP-C null mice

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12 December 2020

Dissecting the N-terminal myosin binding site of human cardiac myosin-binding protein C. Structure and myosin binding of domain C2

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12 December 2020

Decreased phosphorylation levels of cardiac myosin-binding protein-C in human and experimental heart failure

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12 December 2020

Cardiac myosin-binding protein C is required for complete relaxation in intact myocytes

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12 December 2020

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

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12 December 2020

Molecular mechanisms and potential clinical significance of S-glutathionylation.

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12 December 2020

Three-dimensional structure of vertebrate cardiac muscle myosin filaments

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12 December 2020

Shared genetic causes of cardiac hypertrophy in children and adults

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12 December 2020

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

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12 December 2020

The ubiquitin-proteasome system in cardiac dysfunction

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12 December 2020

Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle

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12 December 2020

Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy

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12 December 2020

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

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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

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations

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12 December 2020

A homozygous MYBPC3 gene mutation associated with a severe phenotype and a high risk of sudden death in a family with hypertrophic cardiomyopathy.

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12 December 2020

Top-down high-resolution mass spectrometry of cardiac myosin binding protein C revealed that truncation alters protein phosphorylation state

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12 December 2020

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

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12 December 2020

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

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12 December 2020

The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

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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

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

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12 December 2020

Phosphorylation and function of cardiac myosin binding protein-C in health and disease.

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12 December 2020

Distinct sarcomeric substrates are responsible for protein kinase D-mediated regulation of cardiac myofilament Ca2+ sensitivity and cross-bridge cycling

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12 December 2020

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

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12 December 2020

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation

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12 December 2020

Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies

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12 December 2020

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

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12 December 2020

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

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12 December 2020

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

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12 December 2020

Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle

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12 December 2020

Myosin binding protein C interaction with actin: characterization and mapping of the binding site

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12 December 2020

Protein kinase A-induced myofilament desensitization to Ca(2+) as a result of phosphorylation of cardiac myosin-binding protein C

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12 December 2020

Novel role for p90 ribosomal S6 kinase in the regulation of cardiac myofilament phosphorylation

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12 December 2020

Cardiac Myosin-binding protein C and hypertrophic cardiomyopathy

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12 December 2020

Characterization of potential S-nitrosylation sites in the myocardium

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12 December 2020

Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: mechanisms and therapeutic opportunities

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12 December 2020

Genetic therapies for RNA mis-splicing diseases

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12 December 2020

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype

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12 December 2020

A critical function for Ser-282 in cardiac Myosin binding protein-C phosphorylation and cardiac function

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12 December 2020

Electron microscopy and 3D reconstruction of F-actin decorated with cardiac myosin-binding protein C (cMyBP-C).

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12 December 2020

Direct visualization of myosin-binding protein C bridging myosin and actin filaments in intact muscle.

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12 December 2020

Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors

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12 December 2020

Unique single molecule binding of cardiac myosin binding protein-C to actin and phosphorylation-dependent inhibition of actomyosin motility requires 17 amino acids of the motif domain

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12 December 2020

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

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12 December 2020

Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice

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12 December 2020

cMyBP-C as a promiscuous substrate: phosphorylation by non-PKA kinases and its potential significance.

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12 December 2020

Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy

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12 December 2020

Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

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12 December 2020

Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy

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12 December 2020

Ranolazine improves cardiac diastolic dysfunction through modulation of myofilament calcium sensitivity

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12 December 2020

Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice

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12 December 2020

Spliceosome-mediated trans-splicing: the therapeutic cut and paste

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12 December 2020

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

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12 December 2020

Structure, interactions and function of the N-terminus of cardiac myosin binding protein C (MyBP-C): who does what, with what, and to whom?

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12 December 2020

Pathogenic properties of the N-terminal region of cardiac myosin binding protein-C in vitro

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12 December 2020

Protein kinase D increases maximal Ca2+-activated tension of cardiomyocyte contraction by phosphorylation of cMyBP-C-Ser315

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12 December 2020

Cardiac myosin binding protein-C: redefining its structure and function

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12 December 2020

A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

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12 December 2020

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

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12 December 2020

Tetrahydrobiopterin improves diastolic dysfunction by reversing changes in myofilament properties

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12 December 2020

GSK3β phosphorylates newly identified site in the proline-alanine-rich region of cardiac myosin-binding protein C and alters cross-bridge cycling kinetics in human: short communication

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12 December 2020

Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells

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12 December 2020

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations

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12 December 2020

Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice

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12 December 2020

Repair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy

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12 December 2020

Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice

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12 December 2020

Post-translational control of cardiac hemodynamics through myosin binding protein C

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12 December 2020

Genome engineering using the CRISPR-Cas9 system

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12 December 2020

Novel control of cardiac myofilament response to calcium by S-glutathionylation at specific sites of myosin binding protein C

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12 December 2020

MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction

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12 December 2020

Ubiquitin-proteasome system and hereditary cardiomyopathies

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12 December 2020

Doxorubicin-induced carbonylation and degradation of cardiac myosin binding protein C promote cardiotoxicity

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12 December 2020

Myosin-binding protein C displaces tropomyosin to activate cardiac thin filaments and governs their speed by an independent mechanism

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12 December 2020

Myocardial infarction-induced N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium

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12 December 2020

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene

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12 December 2020

Adeno-associated virus vectors as therapeutic and investigational tools in the cardiovascular system

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12 December 2020

Development and applications of CRISPR-Cas9 for genome engineering

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12 December 2020

Permanent alteration of PCSK9 with in vivo CRISPR-Cas9 genome editing

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12 December 2020

Proteomics of citrullination in cardiovascular disease

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12 December 2020

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

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12 December 2020

Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA

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12 December 2020

Atlas of the clinical genetics of human dilated cardiomyopathy

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12 December 2020

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

1 reference

12 December 2020

Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells

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12 December 2020

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

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12 December 2020

Endothelin-1 induces myofibrillar disarray and contractile vector variability in hypertrophic cardiomyopathy-induced pluripotent stem cell-derived cardiomyocytes

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12 December 2020

Genome editing. The new frontier of genome engineering with CRISPR-Cas9

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12 December 2020

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice

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12 December 2020

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

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12 December 2020

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

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12 December 2020

Cardiac MyBP-C regulates the rate and force of contraction in mammalian myocardium

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12 December 2020

Animal and in silico models for the study of sarcomeric cardiomyopathies

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12 December 2020

Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes

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12 December 2020

Research priorities in sarcomeric cardiomyopathies

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12 December 2020

Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations

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12 December 2020

Genetic advances in sarcomeric cardiomyopathies: state of the art.

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12 December 2020

A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life

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12 December 2020

Myosin-binding protein C corrects an intrinsic inhomogeneity in cardiac excitation-contraction coupling

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12 December 2020

Effects of cholinergic and adrenergic agonists on phosphorylation of a 165,000-dalton myofibrillar protein in intact cardiac muscle

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12 December 2020

Phosphorylation of purified cardiac muscle C-protein by purified cAMP-dependent and endogenous Ca2+-calmodulin-dependent protein kinases

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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

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

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12 December 2020

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

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12 December 2020

Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

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12 December 2020

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

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12 December 2020

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

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12 December 2020

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy

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12 December 2020

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

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12 December 2020

Cardiac myosin binding protein C gene is specifically expressed in heart during murine and human development

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12 December 2020

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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12 December 2020

Cardiac myosin-binding protein C (MyBP-C): identification of protein kinase A and protein kinase C phosphorylation sites

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12 December 2020

10.1016/J.GENE.2015.09.008

Identifiers

DOI

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4 September 2017

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