How do MYBPC3 mutations cause hypertrophic cardiomyopathy? (Q28252351)

5

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Saskia Schlossarek

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Katja Gehmlich

3

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author name string

Steven Marston

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O'Neal Copeland

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Lucie Carrrier

Journal of Muscle Research & Cell Motility

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language of work or name

English

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publication date

May 2012

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published in

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volume

33

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issue

1

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page(s)

75-80

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exact match

https://scigraph.springernature.com/pub.10.1007/s10974-011-9268-3

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cites work

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

1 reference

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

21 January 2018

1 reference

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Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

21 January 2018

1 reference

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

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

21 January 2018

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

21 January 2018

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

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1 reference

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COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

21 January 2018

1 reference

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Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

21 January 2018

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In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament

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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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1 reference

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Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy

21 January 2018

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

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

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How do mutations in contractile proteins cause the primary familial cardiomyopathies?

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C.

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

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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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Cardiac myosin-binding protein-C phosphorylation and cardiac function

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Cardiac myosin binding protein C phosphorylation is cardioprotective

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

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

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Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

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Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse

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Increased Ca2+-sensitivity of the contractile apparatus in end-stage human heart failure results from altered phosphorylation of contractile proteins

21 January 2018

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

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

21 January 2018

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

21 January 2018

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

21 January 2018

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

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PubMed

https://pubmed.ncbi.nlm.nih.gov/22057632

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Troponin phosphorylation and regulatory function in human heart muscle: dephosphorylation of Ser23/24 on troponin I could account for the contractile defect in end-stage heart failure

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22057632