Affinage

MYBPC3

Myosin-binding protein C, cardiac-type · UniProt Q14896

Length
1274 aa
Mass
140.8 kDa
Annotated
2026-06-10
100 papers in source corpus 27 papers cited in narrative 27 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 10/10 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYBPC3 encodes cardiac myosin-binding protein C (cMyBP-C), a thick-filament-associated sarcomeric protein that acts as a mechanical brake on myosin cross-bridges to tune the rate and economy of cardiac contraction (PMID:16973906, PMID:18599866). Its N-terminal domains tether cross-bridges close to the thick filament backbone—genetic ablation or PKA phosphorylation displaces cross-bridges radially toward actin, accelerating force redevelopment and the stretch-activation response, with PKA acting specifically through cMyBP-C (PMID:16973906, PMID:18599866). The N-terminal region binds F-actin at a site that would sterically interfere with myosin head binding and modulate tropomyosin position, providing a structural basis for thin-filament regulation (PMID:21601575), while acute removal of the C0–C7 domains reduces Ca²⁺ sensitivity, raises cross-bridge cycling rate, and triggers auto-oscillatory contractions that recombinant C0–C7 ligation reverses, defining cMyBP-C as a damper of sarcomere oscillations (PMID:32078438). Beyond cross-bridge tethering, cMyBP-C maintains the energy-sparing super-relaxed (SRX) myosin state and restrains the disordered-relaxed (DRX) state, with cMyBP-C level correlating with the SRX fraction (PMID:30674652, PMID:28658286). Phosphorylation by PKA and by PKD at Ser315 relieves tethering and modulates Ca²⁺ sensitivity and maximal tension in a site-specific manner (PMID:22636676, PMID:24606935). The protein is anchored in the sarcomere C-zone through C-terminal C10-domain binding to the light meromyosin region of the myosin heavy chain (PMID:25583989). MYBPC3 mutations cause hypertrophic cardiomyopathy primarily through haploinsufficiency: truncating and many nontruncating variants reduce full-length cMyBP-C in human myocardium without detectable truncated peptide, producing increased myofilament Ca²⁺ sensitivity, enhanced myosin contractility and sliding velocity, and impaired relaxation that precede hypertrophy (PMID:15249187, PMID:19574547, PMID:22465693, PMID:30550750). Distinct loss-of-function routes include premature-termination-codon-triggered nonsense-mediated decay (PMID:30586709), splicing or protein-stability defects (PMID:34097875), and failure of C10-domain missense mutants to incorporate into myofilaments with accelerated degradation (PMID:25583989, PMID:32841044), whereas certain missense variants such as E258K disrupt the myosin-S2 interaction and increase actin affinity (PMID:23980194, PMID:36744470). Disease progression in human engineered tissue evolves from an early hypercontractile state to hypocontractility with Ca²⁺-handling abnormalities (PMID:36893011). Restoring protein level or inhibiting myosin ATPase with MYK-461 rescues the contractile defect (PMID:30674652).

Mechanistic history

Synthesis pass · year-by-year structured walk · 27 steps
  1. 2004 High

    Established that loss of cMyBP-C dosage, rather than a poison peptide, is sufficient to produce HCM-like disease, framing haploinsufficiency as the candidate mechanism.

    Evidence Targeted Mybpc3 deletion in mice with dose-dependent phenotyping by echocardiography and histology

    PMID:15249187

    Open questions at the time
    • Mouse phenotype timing may not map to human disease course
    • Does not resolve the molecular events linking protein loss to hypertrophy
  2. 2006 High

    Resolved how PKA enhances contractile kinetics by showing it acts specifically through cMyBP-C rather than other substrates.

    Evidence Skinned myocardium from WT and cMyBP-C null mice with PKA treatment and force/stretch-activation assays

    PMID:16973906

    Open questions at the time
    • Did not visualize the structural change underlying accelerated kinetics
    • Did not map the responsible phosphosites
  3. 2006 High

    Demonstrated that cMyBP-C is required for β-adrenergic inotropic reserve and adaptation to pressure overload in the intact heart.

    Evidence In vivo pressure-volume and echocardiography with β-agonist and aortic banding in null mice

    PMID:17122190

    Open questions at the time
    • Whole-organ readout does not isolate the sarcomeric mechanism
    • Compensatory remodeling could confound interpretation
  4. 2008 High

    Provided the structural basis for cross-bridge tethering by showing PKA phosphorylation radially displaces cross-bridges toward actin, an effect absent in null myocardium.

    Evidence Synchrotron low-angle x-ray diffraction of skinned trabeculae from WT and null mice with PKA treatment

    PMID:18599866

    Open questions at the time
    • Resting-state measurement does not establish the dynamic effect during cycling
    • Specific domain mediating tethering not defined here
  5. 2009 High

    Provided direct human evidence that MYBPC3 mutations reduce full-length protein without truncated peptide, confirming haploinsufficiency as the primary disease mechanism in patients.

    Evidence Quantitative immunoblotting and RT-PCR of human myectomy samples versus donor controls

    PMID:19574547

    Open questions at the time
    • Did not establish the degradation/quality-control route eliminating truncated peptides
    • ~24% reduction smaller than expected for full allelic loss
  6. 2011 High

    Mapped the actin-binding interface of the N-terminal domains, explaining how cMyBP-C could occlude myosin binding and reposition tropomyosin.

    Evidence Negative-stain EM and 3D helical reconstruction of F-actin decorated with recombinant N-terminal fragments

    PMID:21601575

    Open questions at the time
    • Reconstruction used isolated fragments, not full-length protein in situ
    • Functional consequence of tropomyosin shift inferred structurally
  7. 2011 Medium

    Connected protein-quality-control pathways to disease, revealing UPS impairment specific to truncated-protein-expressing models and shared autophagy defects.

    Evidence Ub(G76V)-GFP reporter mice, proteasome activity and ALP marker assays in Mybpc3 KI and KO mice

    PMID:22189562

    Open questions at the time
    • Causal link between proteostasis defect and contractile phenotype not established
    • Findings in mouse models only
  8. 2012 High

    Identified PKD as a second kinase that binds and phosphorylates cMyBP-C at Ser315, with cMyBP-C specifically required for PKD-driven maximal tension enhancement.

    Evidence Co-IP in contracting cardiomyocytes and permeabilized myocyte force assays in WT and KO mice

    PMID:22636676

    Open questions at the time
    • Single Co-IP for the interaction without reciprocal/structural validation
    • Physiological context for PKD signaling to cMyBP-C unclear
  9. 2012 High

    Showed that Ca²⁺ sensitization and impaired relaxation are early consequences of Mybpc3 mutation that precede hypertrophy, ordering the disease cascade.

    Evidence Skinned trabeculae force-Ca²⁺, intact myocyte Ca²⁺ transients, and echocardiography in heterozygous knock-in mice

    PMID:22465693

    Open questions at the time
    • Knock-in expresses truncated allele, distinct from pure haploinsufficiency
    • Did not define the molecular trigger of Ca²⁺ sensitization
  10. 2013 High

    Defined a missense mechanism distinct from haploinsufficiency by showing E258K abolishes the myosin-S2 interaction while increasing actin affinity, impairing both kinetics and force.

    Evidence Yeast two-hybrid interaction mapping and adenoviral expression in cMyBP-C null engineered cardiac tissue

    PMID:23980194

    Open questions at the time
    • Yeast two-hybrid interaction not confirmed in native myocardium
    • Relationship to later haploinsufficiency finding for E258K not reconciled here
  11. 2014 High

    Localized sarcomere anchoring to the C-terminal C10 domain via binding to light meromyosin and showed an HCM deletion disrupts incorporation and contractility.

    Evidence Co-sedimentation, cross-linking, fractionation, immunofluorescence, and contractile assays in adult rat cardiomyocytes

    PMID:25583989

    Open questions at the time
    • Effect on Ca²⁺ transients excluded but downstream signaling not examined
    • Overexpression in rat cells may not reflect endogenous stoichiometry
  12. 2014 High

    Demonstrated that proteolytic N-terminal fragments produced post-MI act through actin and tropomyosin to depress force and Ca²⁺ sensitivity, identifying a fragment-driven contractile pathology.

    Evidence Recombinant human C0-C1f incorporated into permeabilized human LV myocardium with mechanical and binding assays

    PMID:24509847

    Open questions at the time
    • Endogenous abundance of these fragments in vivo not quantified here
    • Mechanism specific to ischemic context
  13. 2014 High

    Resolved site-specific roles of M-domain phosphorylation, showing combinations like the DAD phosphomimetic markedly alter tension and cross-bridge kinetics.

    Evidence Sinusoidal analysis of muscle fibers from null mice transgenically expressing phosphosite mutants

    PMID:24606935

    Open questions at the time
    • Phosphomimetics approximate but do not equal true phosphorylation
    • In vivo regulation of individual sites not addressed
  14. 2015 High

    Explained gain-of-function Ca²⁺ sensitization for an M-domain HCM variant by showing L348P shifts tropomyosin further toward the open position, phosphorylation-independently.

    Evidence EM 3D reconstruction of thin filaments decorated with WT vs L348P N-terminal fragments

    PMID:26718724

    Open questions at the time
    • Isolated fragment study, not full-length protein in sarcomere
    • Direct tension consequences not measured here
  15. 2016 High

    Contrasted pathogenic mechanisms in a null background, showing truncated protein fails to incorporate (haploinsufficiency) while a missense variant incorporates yet still depresses force (poisoning).

    Evidence AAV expression in cMyBP-C null engineered heart tissue with immunofluorescence and force measurements

    PMID:27108529

    Open questions at the time
    • Viral expression levels may not match endogenous
    • Single missense variant tested
  16. 2017 Medium

    Linked cMyBP-C to the energetic super-relaxed myosin state by showing MYBPC3-mutant human tissue has reduced SRX, with SRX fraction correlating with cMyBP-C level.

    Evidence Single-nucleotide turnover SRX assay on genotyped human myectomy samples

    PMID:28658286

    Open questions at the time
    • Correlative, single-lab measurement
    • Causal direction between cMyBP-C loss and SRX reduction not isolated
  17. 2017 Medium

    Implicated blunted autophagic flux with Akt-mTORC1 activation in disease and showed autophagy-activating interventions partially rescue cardiomyopathy.

    Evidence Autophagy markers/flux assays and rapamycin/caloric-restriction rescue in KI mice plus human myectomy confirmation

    PMID:29021349

    Open questions at the time
    • Whether autophagy defect is cause or consequence unresolved
    • Rescue only partial
  18. 2018 High

    Tied reduced human MyBP-C content directly to enhanced contractile output by showing 40% reduction accelerates myosin sliding velocity specifically in the thick-filament C-zone.

    Evidence Quantitative mass spectrometry and single-particle TIRF sliding assays on native human filaments with analytical modeling

    PMID:30550750

    Open questions at the time
    • In vitro motility may not capture intact-cell regulation
    • Reduced phosphorylation contribution not fully separated from reduced content
  19. 2019 High

    Unified the contractile phenotype with myosin conformation, showing cMyBP-C depletion shifts myosin from SRX toward DRX dose-dependently and that MYK-461 rescues the defect.

    Evidence Genetic/biochemical depletion, myosin conformation assays, and MYK-461 rescue in mouse and human cardiomyocytes

    PMID:30674652

    Open questions at the time
    • Direct structural mechanism of cMyBP-C maintaining SRX not resolved
    • Long-term in vivo efficacy of inhibitor not addressed here
  20. 2019 High

    Established chronic NMD activation as a direct molecular route from premature-termination-codon mutations to aberrant Ca²⁺ handling, reversible by NMD inhibition.

    Evidence Isogenic hiPSC-CMs with MYBPC3 PTCs, NMD inhibition, Ca²⁺ handling, and transcriptome analysis

    PMID:30586709

    Open questions at the time
    • NMD inhibition not therapeutically selective in vivo
    • Link between Ca²⁺ abnormality and structural disease not established
  21. 2020 High

    Revealed protein-level compensation in heterozygous cells via slower MyBP-C degradation that maintains stoichiometry and preserves contractile function despite allelic loss.

    Evidence Stable isotope labeling of synthesis/degradation, contractile assays, and RNA-seq in patient-derived and engineered iPSC-CMs

    PMID:31877118

    Open questions at the time
    • Whether compensation persists with aging/stress unclear
    • Mechanism stabilizing residual protein not identified
  22. 2020 Medium

    Defined a distinct loss-of-function route for C10-domain missense variants through failed myofilament incorporation and accelerated degradation, separating them from C3/C6 variants.

    Evidence Expression of missense mutants in rat ventricular myocytes with localization and degradation assays plus cohort domain mapping

    PMID:32841044

    Open questions at the time
    • Single-lab cellular assay
    • Functional contractile consequence of these variants not measured here
  23. 2020 High

    Defined the N-terminal domains as dampers of sarcomere oscillations through an acute in-situ removal-and-replacement strategy with phosphorylation-dependent rescue.

    Evidence Spy-C mouse with TEV-cleavable C0–C7 and SpyTag/SpyCatcher ligation in permeabilized cardiomyocytes with force-Ca²⁺/ktr assays

    PMID:32078438

    Open questions at the time
    • Acute removal differs from chronic mutation context
    • Phosphorylated C0–C7 incomplete rescue not fully explained
  24. 2021 Medium

    Generalized haploinsufficiency to nontruncating variants by showing ~half alter splicing or protein stability with high specificity for HCM pathogenicity.

    Evidence Cell-based minigene splicing and protein stability assays across 44 classified variants

    PMID:34097875

    Open questions at the time
    • Minigene assays may not reflect native splicing
    • Functional contractile validation not performed for each variant
  25. 2022 Medium

    Extended MYBPC3 biology beyond cardiomyocytes by showing fibroblast expression and that its disruption activates NF-κB/TGF-β1/HIF-1α-driven fibrosis pathways.

    Evidence CRISPR disruption in NIH3T3 fibroblasts with pathway analysis and an R495Q base-edited pig model

    PMID:36357371

    Open questions at the time
    • Fibroblast role not validated in human tissue
    • Mechanism connecting cMyBP-C loss to NF-κB activation unknown
  26. 2023 High

    Demonstrated that the E258K founder mutation produces haploinsufficiency with faster, energetically costly cross-bridge cycling, partly offset by compensatory slowing of excitation-contraction coupling.

    Evidence Myofibril/permeabilized-strip mechanics, Ca²⁺ transients, hiPSC-CMs/EHTs, imaging, and in silico modeling

    PMID:36744470

    Open questions at the time
    • Reconciliation with earlier S2-interaction loss for E258K not detailed
    • Durability of EC-coupling compensation in disease progression unclear
  27. 2023 High

    Mapped the temporal progression of haploinsufficiency from early hypercontractility to hypocontractility with progressive Ca²⁺-handling abnormalities in human engineered tissue.

    Evidence Isogenic heterozygous/homozygous MYBPC3 frameshift iPSC ECTs with longitudinal contractile, Ca²⁺, and RNA-seq analyses

    PMID:36893011

    Open questions at the time
    • Engineered tissue maturation differs from adult myocardium
    • Trigger converting hyper- to hypocontractility not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How cMyBP-C structurally maintains the super-relaxed myosin state, and what molecular trigger converts early hypercontractility into progressive Ca²⁺-handling dysfunction and hypocontractility, remain unresolved.
  • No atomic-resolution model of cMyBP-C maintaining SRX in situ
  • Causal driver of the hyper-to-hypocontractile transition undefined
  • Role of fibroblast-expressed cMyBP-C in human disease unconfirmed

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 4 GO:0008092 cytoskeletal protein binding 3
Localization
GO:0005856 cytoskeleton 2
Pathway
R-HSA-1643685 Disease 4 R-HSA-397014 Muscle contraction 4
Partners
ACTC1MYH7TPM1
Complex memberships
sarcomere thick filament (C-zone)

Evidence

Reading pass · 27 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 PKA phosphorylation of cMyBP-C accelerates cross-bridge cycling kinetics and the stretch activation response in skinned myocardium. Ablation of cMyBP-C mimics PKA treatment (accelerated force redevelopment and stretch activation), but PKA has no additional effect in cMyBP-C null myocardium, indicating that PKA acts specifically through cMyBP-C phosphorylation to enhance contractile kinetics. Skinned ventricular myocardium from wild-type and cMyBP-C null mice; PKA treatment; mechanical measurements of force redevelopment rate and stretch activation response Circulation research High 16973906
2008 PKA-mediated phosphorylation of cMyBP-C increases the proximity of myosin cross-bridges to actin (displaces cross-bridges radially/azimuthally from thick filaments) in resting myocardium, as demonstrated by an ~50% increase in the equatorial x-ray diffraction intensity ratio I(11)/I(10). This effect is absent in cMyBP-C null myocardium, confirming cMyBP-C acts as a tether that restrains cross-bridges and is relieved upon phosphorylation. Synchrotron low-angle x-ray diffraction of skinned trabeculae from wild-type and cMyBP-C null mice; PKA treatment Circulation research High 18599866
2011 The N-terminal domains of cMyBP-C bind to F-actin via subdomain 1, and 3D reconstruction by electron microscopy showed that cMyBP-C density covers a broad portion of actin subdomain 1, extending tangentially toward the pointed end. The binding location would sterically interfere with myosin head binding to actin and could modulate tropomyosin position, providing a structural basis for thin-filament regulation by cMyBP-C. Negative-stain electron microscopy and 3D helical reconstruction of F-actin decorated with bacterially expressed N-terminal cMyBP-C fragments; molecular fitting with atomic Ig-domain structure Journal of molecular biology High 21601575
2015 The HCM-associated cMyBP-C L348P variant (M-domain leucine→proline) causes a larger displacement of tropomyosin on the thin filament—from the blocked position to approximately the open position—compared with wild-type fragments that shift tropomyosin only to the closed position. This enhanced tropomyosin shift is phosphorylation-independent, explaining the gain-of-function Ca²⁺-sensitization conferred by L348P. Electron microscopy and 3D reconstruction of thin filaments decorated with wild-type or L348P cMyBP-C N-terminal fragments; phosphorylated vs. unphosphorylated comparisons Journal of molecular and cellular cardiology High 26718724
2013 The E258K missense HCM mutation in cMyBP-C abolishes the N-terminal cMyBP-C interaction with myosin S2 (detected by yeast two-hybrid), while simultaneously increasing affinity between N-terminal cMyBP-C and actin. Expression of E258K cMyBP-C in murine engineered cardiac tissue lacking endogenous cMyBP-C caused accelerated contractile kinetics and severely reduced twitch force, phenocopying cMyBP-C ablation with respect to kinetics but additionally impairing force. Adenoviral expression in cMyBP-C null murine engineered cardiac tissue; yeast two-hybrid for protein interaction mapping; contractile force measurements The Journal of general physiology High 23980194
2014 The C-terminal C10 domain of cMyBP-C binds the light meromyosin (LMM) region of the myosin heavy chain; the HCM-associated 25-bp deletion mutant (cMyBP-CᶜC10mut) loses this interaction as demonstrated by co-sedimentation and protein cross-linking assays. cMyBP-CᶜC10mut fails to incorporate into the sarcomere C-zone (immunofluorescence and subcellular fractionation), and its adenoviral expression in adult rat cardiomyocytes reduces fractional shortening and sarcomere shortening without altering Ca²⁺ transients. Co-sedimentation and protein cross-linking assays; subcellular fractionation; immunofluorescence; adenoviral expression in adult rat cardiomyocytes; contractile and Ca²⁺ transient measurements The Journal of biological chemistry High 25583989
2014 An N-terminal fragment of cMyBP-C generated by post-MI proteolysis (C0-C1f) incorporated into permeabilized human left ventricular myocardium decreases maximal Ca²⁺-activated force and myofilament Ca²⁺ sensitivity, and increases cross-bridge cycling kinetics and tension cost. These effects occur through direct interaction of C0-C1f with actin and α-tropomyosin, identifying a mechanism by which MI-generated fragments impair cardiac contractility. Recombinant human C0-C1f incorporated into permeabilized human LV myocardium; mechanical property measurements at two sarcomere lengths; biochemical binding assays for actin and tropomyosin interactions The Journal of biological chemistry High 24509847
2019 Stepwise depletion of cMyBP-C causes dose-dependent augmentation of myosin contractility. cMyBP-C depletion enhances the myosin disordered-relaxed (DRX) state that enables ATP hydrolysis and thin-filament interaction, while reducing the super-relaxed (SRX) conformation. A dilated cardiomyopathy missense variant (F764L) in myosin normalizes the increased contractility from cMyBP-C depletion. The myosin ATPase inhibitor MYK-461 rescues relaxation deficits and restores normal contractility in MYBPC3-mutant mouse and human cardiomyocytes. Genetic and biochemical approaches in mouse and human cardiomyocytes; myosin conformation assays; pharmacological rescue with MYK-461; stepwise cMyBP-C depletion models Science translational medicine High 30674652
2017 MYBPC3 mutations causing HCM are associated with a significantly reduced super-relaxed (SRX) myosin state in human LV tissue. MYBPC3-mutant samples showed fewer myosin heads in the SRX and shorter ATP turnover lifetime compared to donors. A positive correlation between cMyBP-C expression level and the proportion of SRX myosin heads indicates that cMyBP-C modulates and maintains the SRX state. Single-nucleotide turnover assay for SRX measurement in human myectomy samples; genotyping of HCM patients; quantitative comparison of MYBPC3-mutant vs. non-mutant vs. donor samples PloS one Medium 28658286
2012 Protein kinase D (PKD) binds to cMyBP-C in contracting cardiomyocytes (shown by immunoprecipitation) and phosphorylates it at Ser315. In permeabilized ventricular myocytes from wild-type mice, PKD increased both myofilament Ca²⁺ sensitivity and maximal Ca²⁺-activated tension (Tmax); in cMyBP-C knockout myocytes, PKD still increased Ca²⁺ sensitivity but failed to increase Tmax, demonstrating that cMyBP-C is specifically required for PKD-mediated Tmax enhancement. Immunoprecipitation in contracting cardiomyocytes; permeabilized myocyte force measurements in wild-type and cMyBP-C knockout mice; PKD treatment American journal of physiology. Heart and circulatory physiology High 22636676
2014 Phosphorylation of cMyBP-C at specific serine residues has site-specific effects on contractile mechanics: the DAD phosphomimetic mutation (Asp273-Ala282-Asp302) causes ~50% reduction in tension, decreased stiffness, altered cross-bridge kinetics (decreased 2πc, increased 2πb), while SAS (Ser273-Ala282-Ser302) and ADA mutations cause minimal changes. The non-phosphorylatable Ala at position 282 combined with phosphomimetic Asp at 273 and/or 302 is particularly detrimental. Sinusoidal analysis of papillary and trabecular muscle fibers from cMyBP-C null mice transgenically expressing site-specific phosphorylation mutants; pCa-tension studies Biophysical journal High 24606935
2004 Heterozygous cMyBP-C null mice with ~50% reduction in cMyBP-C protein develop asymmetric septal hypertrophy with fibrosis at 10–11 months, recapitulating a key feature of human FHC. Homozygous null mice develop eccentric LV hypertrophy with decreased fractional shortening at 3–4 months and markedly impaired relaxation after 9 months, establishing that haploinsufficiency of cMyBP-C is sufficient to cause the HCM-like phenotype. Targeted deletion of Mybpc3 exons 1–2 in mice; echocardiography; morphological and molecular analyses at multiple ages in het and hom mice Cardiovascular research High 15249187
2009 In human myectomy samples, MYBPC3 mutations (both truncating and missense) cause a significant reduction (~24%) in full-length cMyBP-C protein in myofibrils compared with donor and non-MYBPC3 mutant samples, without any detectable truncated peptides. This provides direct evidence that haploinsufficiency (not dominant-negative poison peptide) is the primary disease mechanism for MYBPC3-mutation HCM. Quantitative immunoblotting of myofibrillar fractions from human myectomy samples; RT-PCR for mRNA quantification; comparison of mutation-positive vs. mutation-negative vs. donor samples Circulation research High 19574547
2012 Mybpc3 knock-in heterozygous mice (mimicking human HCM) exhibit increased myofilament Ca²⁺ sensitivity and diastolic dysfunction without LV hypertrophy, demonstrating that myofilament Ca²⁺ sensitization and impaired relaxation are early phenotypic consequences of Mybpc3 mutations that precede the development of hypertrophy. Skinned ventricular trabeculae force-Ca²⁺ measurements; intact myocyte Ca²⁺ transient analysis; in vivo echocardiography and Doppler in heterozygous knock-in mice at 10 weeks Journal of molecular and cellular cardiology High 22465693
2006 In vivo LV systolic and diastolic function are compromised under basal conditions in cMyBP-C null mice. Beta-adrenergic stimulation significantly improves ejection fraction and contractile indices in wild-type but not cMyBP-C null mice. Adaptation to chronic pressure overload (aortic banding) is also diminished in cMyBP-C null mice, demonstrating that cMyBP-C is required for β-adrenergic inotropic reserve and pressure-overload adaptation. In vivo pressure-volume relations; echocardiography; β-adrenergic treatment; aortic banding in cMyBP-C null and wild-type mice American journal of physiology. Heart and circulatory physiology High 17122190
2018 MYBPC3 truncation mutations in human HCM myectomy samples result in 40% reduction in MyBP-C content and reduced MyBP-C phosphorylation (quantified by mass spectrometry) without production of truncated protein, and enhance maximal myofilament sliding velocity specifically within the C-zone of thick filaments as demonstrated by single-particle TIRF microscopy. Analytical modeling confirmed that the 40% MyBP-C reduction is sufficient to explain the enhanced sliding velocity. Quantitative mass spectrometry on human myectomy samples; TIRF microscopy single-particle sliding assay with native thick and thin filaments; analytical modeling Journal of molecular and cellular cardiology High 30550750
2019 iPSC-derived cardiomyocytes carrying MYBPC3 premature termination codon mutations activate nonsense-mediated decay (NMD) and show aberrant Ca²⁺ handling with prolonged decay kinetics and elevated diastolic Ca²⁺ without structural abnormalities. Specific pharmacological inhibition of NMD reversed the molecular phenotype and normalized Ca²⁺ handling, establishing chronic NMD activation as a direct molecular mechanism linking MYBPC3 PTC mutations to HCM pathogenesis. Isogenic hiPSC-CMs with MYBPC3 PTC mutations; NMD pathway inhibition; Ca²⁺ handling measurements; transcriptome analysis Circulation High 30586709
2020 Heterozygous MYBPC3 frameshift mutations cause allelic loss-of-function (reduced wild-type mRNA) but protein-level compensation maintaining normal MyBP-C stoichiometry through a previously uncharacterized mechanism involving reduced MyBP-C synthesis rate but slower MyBP-C degradation. Homozygous mutant iPSCMs showed contractile dysregulation, whereas heterozygous iPSCMs with compensated MyBP-C protein levels had normal contractile function. Stable isotope labeling measured MyBP-C synthesis and degradation rates. Patient-derived and genome-engineered iPSC-CMs; stable isotope labeling to measure synthesis and degradation rates; contractile function measurements; RNA-Seq JCI insight High 31877118
2020 Acute removal of cMyBP-C N-terminal domains (C0–C7) in situ using a cut-and-paste genetic/protein engineering approach reduces myofilament Ca²⁺ sensitivity and increases cross-bridge cycling rate (ktr) at submaximal Ca²⁺, and induces auto-oscillatory (SPOC) contractions. Ligation of recombinant C0–C7 rescues pCa50 and ktr and abolishes oscillations; phosphorylated C0–C7 does not fully rescue these effects, revealing a role for cMyBP-C N-terminal domains in damping sarcomere-driven contractile oscillations. Spy-C mouse model with TEV protease cleavage site and SpyTag; detergent-permeabilized cardiomyocytes; recombinant C0–C7 ligation via SpyCatcher-SpyTag; force-Ca²⁺ and ktr measurements Circulation research High 32078438
2020 Nontruncating MYBPC3 pathogenic variants cluster in the C3, C6, and C10 domains. C10-domain missense variants cause failure of MyBP-C to incorporate into myofilaments with ~90% accelerated degradation (measured in rat ventricular myocytes), while C3 and C6 variants incorporate normally with normal degradation rates, demonstrating that a subset of missense variants cause loss-of-function through a distinct myofilament incorporation failure mechanism. Expression of missense mutant MyBP-C in rat ventricular myocytes; myofilament localization assay; degradation rate measurements; domain mapping in a large HCM cohort Circulation. Genomic and precision medicine Medium 32841044
2016 In engineered heart tissue from Mybpc3 knock-out mouse cardiomyocytes reconstituted with viral expression, missense cMyBP-C (c.1591G>C) incorporates correctly into the sarcomere whereas truncated cMyBP-C does not; both mutations fail to restore force to wild-type levels. This demonstrates different pathogenic mechanisms: haploinsufficiency for truncating variants and sarcomere poisoning/incorrect incorporation for the missense variant. AAV-mediated expression in cMyBP-C null engineered heart tissue; immunofluorescence for sarcomere incorporation; isometric force measurements at multiple Ca²⁺ concentrations Journal of molecular and cellular cardiology High 27108529
2022 MYBPC3 is expressed in cardiac fibroblasts (not only cardiomyocytes), and CRISPR-mediated disruption of Mybpc3 in NIH3T3 fibroblasts activates the NF-κB signaling pathway, increases TGF-β1 expression, promotes HIF-1α-driven aerobic glycolysis, and accelerates fibroblast activation and cardiac fibrosis in a R495Q mutant pig model. Cytosine base editing in pigs (R495Q mutation); CRISPR disruption of Mybpc3 in NIH3T3 fibroblasts; NF-κB and TGF-β1 pathway analysis; glycolysis pathway measurements Cell death & disease Medium 36357371
2011 The ubiquitin-proteasome system (UPS) is activated early in postnatal cardiac hypertrophy in Mybpc3 knock-in and knock-out mice. In aged knock-in mice (expressing truncated cMyBP-C) but not knock-out mice, UPS degradation capacity is specifically impaired (fourfold higher Ub(G76V)-GFP accumulation), while autophagy-lysosome pathway markers are elevated in both models, suggesting defective ALP as a common mechanism and specific UPS impairment when truncated cMyBP-C is present. Ubiquitinated protein levels; proteasomal activity assays; Ub(G76V)-GFP reporter mice; ALP marker analysis in Mybpc3-KI and KO mice Basic research in cardiology Medium 22189562
2017 Autophagic flux is blunted in hearts of aged Mybpc3 knock-in mice and in human HCM myectomies with MYBPC3 mutations, associated with Akt-mTORC1 pathway activation. Treatment with rapamycin or caloric restriction (activating autophagy) partially rescued cardiomyopathy and restored autophagic flux in knock-in mice. LC3-II protein level measurement; autophagic flux assay; flow cytometry; rapamycin treatment; caloric restriction; echocardiography in Mybpc3-KI mice Circulation. Heart failure Medium 29021349
2023 The MYBPC3:c772G>A (E258K) founder mutation reduces cMyBP-C expression (haploinsufficiency) and causes faster cross-bridge cycling and higher energy cost of tension generation in ventricular myofibrils and permeabilized strips. Compensatory slowing of excitation-contraction coupling (prolonged action potentials, slower Ca²⁺ transients) preserves twitch duration despite faster sarcomere kinetics. Mechanical studies in single myofibrils and permeabilized strips; Ca²⁺ transient measurement in native and hiPSC-derived cardiomyocytes; intact trabeculae; hiPSC-EHTs; tissue clearing/optical microscopy; in silico modeling Circulation research High 36744470
2021 Among 44 nontruncating MYBPC3 variants, ~50% of HCM-linked variants showed alterations in RNA splicing or protein stability detectable by a cell-based minigene assay and protein stability assay, both with high specificity for HCM pathogenicity (100% and 94%, respectively). This demonstrates that protein haploinsufficiency, driven by splicing errors or protein instability, is a common pathomechanism even for nontruncating variants. Cell-based minigene splicing assay; protein stability assay; cosegregation and population genetics classification of 44 variants The Journal of biological chemistry Medium 34097875
2023 cMyBP-C haploinsufficiency in human engineered cardiac tissue (ECT) causes a progressive phenotype: initially hypercontractile, progressing to hypocontractility with impaired relaxation and severe force depression in homozygous null ECTs over 6 weeks. Ca²⁺-handling abnormalities develop progressively and are more pronounced with complete cMyBP-C absence, suggesting that while the primary effect may relate to myosin crossbridge orientation, the contractile phenotype is Ca²⁺-mediated. CRISPR-Cas9 heterozygous and homozygous MYBPC3 frameshift in human iPSCs; cardiac micropatterns and ECTs; longitudinal contractile, Ca²⁺-handling, and Ca²⁺-sensitivity measurements; RNA-seq The Journal of general physiology High 36893011

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1997 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. Circulation research 227 9048664
2009 A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature genetics 218 19151713
2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. Circulation research 201 19574547
2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circulation. Cardiovascular genetics 199 20215591
2015 Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. Gene 180 26358504
2019 Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Science translational medicine 160 30674652
2015 Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function. Cell reports 157 26489474
2014 Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice. Nature communications 147 25463264
2012 Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in mice. Journal of molecular and cellular cardiology 125 22465693
2004 Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice. Cardiovascular research 123 15249187
2006 Protein kinase A-mediated acceleration of the stretch activation response in murine skinned myocardium is eliminated by ablation of cMyBP-C. Circulation research 120 16973906
2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. European heart journal 119 14563344
2017 MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. PloS one 108 28658286
2019 A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. Circulation 106 30586709
2008 Protein kinase A-mediated phosphorylation of cMyBP-C increases proximity of myosin heads to actin in resting myocardium. Circulation research 104 18599866
2011 How do MYBPC3 mutations cause hypertrophic cardiomyopathy? Journal of muscle research and cell motility 90 22057632
2011 Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy. Basic research in cardiology 87 22189562
2013 Rescue of cardiomyopathy through U7snRNA-mediated exon skipping in Mybpc3-targeted knock-in mice. EMBO molecular medicine 86 23716398
2018 Contractile deficits in engineered cardiac microtissues as a result of MYBPC3 deficiency and mechanical overload. Nature biomedical engineering 83 31015724
2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proceedings of the National Academy of Sciences of the United States of America 80 28679633
2017 Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes. Molecular therapy. Nucleic acids 79 28624223
2020 Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy. JCI insight 75 31877118
2020 Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 74 32841044
2013 Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice. Journal of molecular and cellular cardiology 65 23896226
2011 Electron microscopy and 3D reconstruction of F-actin decorated with cardiac myosin-binding protein C (cMyBP-C). Journal of molecular biology 62 21601575
2004 Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. European journal of human genetics : EJHG 61 15114369
2013 Repair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy. Molecular therapy. Nucleic acids 60 23820890
2023 An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy. International journal of molecular sciences 59 37445689
2014 Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice. Journal of molecular and cellular cardiology 59 25463273
2008 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC medical genetics 57 18957093
2003 Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. Journal of molecular and cellular cardiology 57 12788380
2017 Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice. Circulation. Heart failure 55 29021349
2014 Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation. Circulation 55 25078086
2016 Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. Journal of molecular and cellular cardiology 53 27108529
2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart (British Cardiac Society) 53 18467358
2018 MYBPC3 truncation mutations enhance actomyosin contractile mechanics in human hypertrophic cardiomyopathy. Journal of molecular and cellular cardiology 52 30550750
2014 Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. American journal of physiology. Heart and circulatory physiology 51 24464755
2013 MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations. Journal of molecular and cellular cardiology 51 24083979
2018 Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy. Pflugers Archiv : European journal of physiology 49 30456444
2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. American heart journal 48 24093860
2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. Circulation. Cardiovascular imaging 46 28193612
2016 Cardiac inflammation in genetic dilated cardiomyopathy caused by MYBPC3 mutation. Journal of molecular and cellular cardiology 43 27955979
2010 The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. International journal of cardiology 42 20542340
2014 Myocardial infarction-induced N-terminal fragment of cardiac myosin-binding protein C (cMyBP-C) impairs myofilament function in human myocardium. The Journal of biological chemistry 41 24509847
2011 Adrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in mice. Journal of muscle research and cell motility 40 22076249
2016 Platelet Activation and Clopidogrel Effects on ADP-Induced Platelet Activation in Cats with or without the A31P Mutation in MYBPC3. Journal of veterinary internal medicine 38 27615120
2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. Journal of medical genetics 38 25740977
2015 Oxidative Stress in Dilated Cardiomyopathy Caused by MYBPC3 Mutation. Oxidative medicine and cellular longevity 38 26508994
2020 Radiomic Analysis of Native T1 Mapping Images Discriminates Between MYH7 and MYBPC3-Related Hypertrophic Cardiomyopathy. Journal of magnetic resonance imaging : JMRI 37 32525266
2015 Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing. Journal of the American Heart Association 37 26163040
2010 Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed. Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology 37 21051304
2020 A Novel "Cut and Paste" Method for In Situ Replacement of cMyBP-C Reveals a New Role for cMyBP-C in the Regulation of Contractile Oscillations. Circulation research 36 32078438
2020 Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 36 32163302
2022 MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis. Cell death & disease 35 36357371
2017 Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation. Circulation. Cardiovascular genetics 35 28794111
2011 cMyBP-C as a promiscuous substrate: phosphorylation by non-PKA kinases and its potential significance. Journal of muscle research and cell motility 35 22089698
2021 Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy. The Journal of biological chemistry 34 34097875
2020 Targeting the population for gene therapy with MYBPC3. Journal of molecular and cellular cardiology 34 33049255
2018 Transcriptome Analysis of Cardiac Hypertrophic Growth in MYBPC3-Null Mice Suggests Early Responders in Hypertrophic Remodeling. Frontiers in physiology 34 30410445
2013 MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction. Pflugers Archiv : European journal of physiology 33 24337823
2025 AAV9-mediated MYBPC3 gene therapy with optimized expression cassette enhances cardiac function and survival in MYBPC3 cardiomyopathy models. Nature communications 31 40038304
2019 Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Human mutation 31 30924982
2018 Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants. JAMA cardiology 31 29641836
2014 Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats. Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology 31 24906243
2006 In vivo left ventricular functional capacity is compromised in cMyBP-C null mice. American journal of physiology. Heart and circulatory physiology 31 17122190
2019 Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 30 30645170
2013 E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction. The Journal of general physiology 30 23980194
2009 From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene. Journal of muscle research and cell motility 29 19219553
2012 A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death. Neonatology 28 22907696
2014 Sexual dimorphic response to exercise in hypertrophic cardiomyopathy-associated MYBPC3-targeted knock-in mice. Pflugers Archiv : European journal of physiology 27 25010737
2011 Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation--the clinical significance of having the mutation. Acta veterinaria Scandinavica 27 21306647
2023 Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM. Circulation research 25 36744470
2011 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. Molecular and cellular biochemistry 25 21959974
2015 A hypertrophic cardiomyopathy-associated MYBPC3 mutation common in populations of South Asian descent causes contractile dysfunction. The Journal of biological chemistry 24 25583989
2014 Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models. American journal of physiology. Heart and circulatory physiology 24 25281569
2022 The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C. FEBS letters 23 35224729
2021 Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3. Circulation. Genomic and precision medicine 23 33657327
2019 Assessment of myocardial oxygenation, strain, and diastology in MYBPC3-related hypertrophic cardiomyopathy: a cardiovascular magnetic resonance and echocardiography study. European heart journal. Cardiovascular Imaging 23 30668650
2018 Variable cardiac myosin binding protein-C expression in the myofilaments due to MYBPC3 mutations in hypertrophic cardiomyopathy. Journal of molecular and cellular cardiology 23 30170119
2015 The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position. Journal of molecular and cellular cardiology 23 26718724
2013 MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation. Pflugers Archiv : European journal of physiology 23 24327208
2021 Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations. Clinical epigenetics 22 33757590
2023 Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 20 37409452
2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 20 23782526
2008 MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. The Canadian journal of cardiology 20 18273486
2022 A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. Human molecular genetics 19 34542152
2014 Phosphorylation of cMyBP-C affects contractile mechanisms in a site-specific manner. Biophysical journal 19 24606935
2013 Molecular modeling of disease causing mutations in domain C1 of cMyBP-C. PloS one 19 23527136
2012 Protein kinase D increases maximal Ca2+-activated tension of cardiomyocyte contraction by phosphorylation of cMyBP-C-Ser315. American journal of physiology. Heart and circulatory physiology 18 22636676
2023 Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy. Gene therapy 17 36765144
2021 Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry. Genes 17 34680864
2015 The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy. PloS one 17 26267065
2013 AT1 blockade abolishes left ventricular hypertrophy in heterozygous cMyBP-C null mice: role of FHL1. Fundamental & clinical pharmacology 17 23600722
2022 Pharmacokinetics of a single dose of Aficamten (CK-274) on cardiac contractility in a A31P MYBPC3 hypertrophic cardiomyopathy cat model. Journal of veterinary pharmacology and therapeutics 16 36382714
2016 Epigallocatechin-3-Gallate Accelerates Relaxation and Ca2+ Transient Decay and Desensitizes Myofilaments in Healthy and Mybpc3-Targeted Knock-in Cardiomyopathic Mice. Frontiers in physiology 16 27994558
2023 cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities. The Journal of general physiology 15 36893011
2020 Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open heart 15 32341788
2016 A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain. Revista espanola de cardiologia (English ed.) 15 28029522
2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy. PloS one 15 23840593
2009 The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. International journal of cardiology 15 19666196

Missed literature

Know a paper Affinage missed for MYBPC3? Flag it for the maintainers and the community.

No submissions yet.