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

scientific article

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1161/CIRCRESAHA.111.300436
P3181OpenCitations bibliographic resource ID3336174
P932PMC publication ID3675884
P698PubMed publication ID23508784
P5875ResearchGate publication ID236061195

P50authorLucie CarrierQ28595187
Jolanda van der VeldenQ28595192
Folkert J ten CateQ42828798
Carolyn HoQ48604633
P2093author name stringAnne M Murphy
Corrado Poggesi
E Rosalie Witjas-Paalberends
Paul J M Wijnker
Vasco Sequeira
Sakthivel Sadayappan
Aref Najafi
Cris Dos Remedios
D Brian Foster
Diederik W D Kuster
Ger J M Stienen
Jessica A Regan
Louise L A M Nijenkamp
Marjon A van Slegtenhorst
Michelle Michels
Nicky Boontje
Ruud Zaremba
Tjeerd Germans
P2860cites workSolution NMR structure of the junction between tropomyosin molecules: implications for actin binding and regulationQ80340057
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin IQ82796150
Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathyQ24291970
Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated formQ24306847
Structural basis for tropomyosin overlap in thin (actin) filaments and the generation of a molecular swivel by troponin-TQ27650626
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyQ28198707
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyQ28236892
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunctionQ28237729
Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filamentQ28255352
Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic functionQ28255692
Increased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in miceQ28263306
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 communicationQ28282353
Length and protein kinase A modulations of myocytes in cardiac myosin binding protein C-deficient miceQ28288922
Phosphorylation specificities of protein kinase C isozymes for bovine cardiac troponin I and troponin T and sites within these proteins and regulation of myofilament propertiesQ28289247
Protein kinase D is a novel mediator of cardiac troponin I phosphorylation and regulates myofilament functionQ28290449
Thin filament mutations: developing an integrative approach to a complex disorderQ28307606
Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin TQ28590907
Multiple Reaction Monitoring to Identify Site-Specific Troponin I Phosphorylated Residues in the Failing Human HeartQ30049005
Effects of a cardiomyopathy-causing troponin t mutation on thin filament function and structure.Q30328020
Phosphorylation of tropomyosin extends cooperative binding of myosin beyond a single regulatory unitQ30438108
Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathyQ30480164
Progression from hypertrophic to dilated cardiomyopathy in mice that express a mutant myosin transgene.Q31722329
How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance.Q33741738
Myofilament length dependent activationQ33787650
Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophyQ33978845
Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathyQ34008230
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) AdultsQ34058337
Tropomyosin ends determine the stability and functionality of overlap and troponin T complexesQ34181125
Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathyQ34195823
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohortQ34201881
Protein kinase A-induced myofilament desensitization to Ca(2+) as a result of phosphorylation of cardiac myosin-binding protein CQ34368485
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyQ34386835
More severe cellular phenotype in human idiopathic dilated cardiomyopathy compared to ischemic heart disease.Q34420272
Myosin head orientation: a structural determinant for the Frank-Starling relationshipQ35056950
The N-terminal extension of cardiac troponin T stabilizes the blocked state of cardiac thin filamentQ36207947
Effects of R92 mutations in mouse cardiac troponin T are influenced by changes in myosin heavy chain isoformQ36235612
Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypesQ36369925
Impact of site-specific phosphorylation of protein kinase A sites Ser23 and Ser24 of cardiac troponin I in human cardiomyocytesQ36528069
Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutantsQ36743165
Myocardial beta adrenoceptors and left ventricular function in hypertrophic cardiomyopathyQ36828757
Myocardial infarction in mice alters sarcomeric function via post-translational protein modificationQ36860519
O-linked GlcNAc modification of cardiac myofilament proteins: a novel regulator of myocardial contractile functionQ37040657
Ala scanning of the inhibitory region of cardiac troponin I.Q37339001
cMyBP-C as a promiscuous substrate: phosphorylation by non-PKA kinases and its potential significance.Q37956980
Cardiac myosin binding protein C phosphorylation in cardiac disease.Q37962818
Single particle analysis of relaxed and activated muscle thin filaments.Q38447830
The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity.Q38454523
Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.Q38458847
The cellular basis of the length-tension relation in cardiac muscleQ39830305
Removal of tropomyosin overlap modifies cooperative binding of myosin S-1 to reconstituted thin filaments of rabbit striated muscleQ41309166
Structural basis for Ca2+-regulated muscle relaxation at interaction sites of troponin with actin and tropomyosinQ41626993
Electron microscopy and 3D reconstruction of F-actin decorated with cardiac myosin-binding protein C (cMyBP-C).Q41836341
Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia.Q41896456
Structure and orientation of troponin in the thin filamentQ43123353
Effects of phosphorylation and mutation R145G on human cardiac troponin I function.Q43809968
Troponin I in the murine myocardium: influence on length-dependent activation and interfilament spacingQ44300159
Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling.Q44324598
Familial hypertrophic cardiomyopathy-related cardiac troponin C mutation L29Q affects Ca2+ binding and myofilament contractilityQ46745076
Characterization of the equilibrium between blocked and closed states of muscle thin filaments.Q54014357
Steric-model for activation of muscle thin filaments 1 1 Edited by P.E. WrightQ58052724
Quantitative analysis of myofilament protein phosphorylation in small cardiac biopsiesQ58087788
Effect of length and cross-bridge attachment on Ca2+ binding to cardiac troponin CQ70033641
Separation and characterization of the two functional regions of troponin involved in muscle thin filament regulationQ70782795
Effect of ionic strength on length-dependent Ca(2+) activation in skinned cardiac muscleQ73367665
Length dependence of Ca(2+)-tension relationship in aequorin-injected ferret papillary musclesQ73757474
Attenuation of length dependence of calcium activation in myofilaments of transgenic mouse hearts expressing slow skeletal troponin IQ74097767
Cross-bridge kinetics in rat myocardium: effect of sarcomere length and calcium activationQ74103856
A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in miceQ74626036
Mechanism of acute mechanical benefit from VDD pacing in hypertrophied heart: similarity of responses in hypertrophic cardiomyopathy and hypertensive heart diseaseQ77066258
Protein kinase A-mediated acceleration of the stretch activation response in murine skinned myocardium is eliminated by ablation of cMyBP-CQ80264868
P433issue11
P407language of work or nameEnglishQ1860
P921main subjecthypertrophic cardiomyopathyQ1364270
P304page(s)1491-505
P577publication date2013-05-24
P1433published inCirculation ResearchQ2599020
P1476titlePerturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations
P478volume112

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cites work (P2860)
Q64068696A step towards understanding the molecular nature of human heart failure: advances using the Sydney Heart Bank collection
Q36394188ADP-stimulated contraction: A predictor of thin-filament activation in cardiac disease.
Q47141059Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes
Q38134256Alpha-tropomyosin mutations in inherited cardiomyopathies
Q34277909Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy
Q58699044Altered Ca and Na Homeostasis in Human Hypertrophic Cardiomyopathy: Implications for Arrhythmogenesis
Q36579173Cardiac Myosin Binding Protein-C Phosphorylation Modulates Myofilament Length-Dependent Activation
Q36444026Cardiac Myosin-binding Protein C and Troponin-I Phosphorylation Independently Modulate Myofilament Length-dependent Activation.
Q28066435Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype
Q38584470Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology
Q38163334Cardiac myosin-binding protein C: hypertrophic cardiomyopathy mutations and structure-function relationships
Q26858986Cardiac thin filament regulation and the Frank-Starling mechanism
Q47170506Cardiomyocyte Hypocontractility and Reduced Myofibril Density in End-Stage Pediatric Cardiomyopathy
Q64971291Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.
Q57095885Cardiomyopathy mutation (F88L) in troponin T abolishes length dependency of myofilament Ca sensitivity
Q38775917Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue
Q37629210Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy
Q42119619Contractility parameters of human β-cardiac myosin with the hypertrophic cardiomyopathy mutation R403Q show loss of motor function.
Q34088867Differences in the regulation of RyR2 from human, sheep, and rat by Ca²⁺ and Mg²⁺ in the cytoplasm and in the lumen of the sarcoplasmic reticulum
Q41957734Distinct contributions of the thin and thick filaments to length-dependent activation in heart muscle
Q47655251Dose-Dependent Effects of the Myosin Activator Omecamtiv Mecarbil on Cross-Bridge Behavior and Force Generation in Failing Human Myocardium
Q41815143ENerGetIcs in hypertrophic cardiomyopathy: traNslation between MRI, PET and cardiac myofilament function (ENGINE study).
Q64284619Extra energy for hearts with a genetic defect: ENERGY trial
Q34430364FHL2 expression and variants in hypertrophic cardiomyopathy
Q35048381Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*
Q42592709Familial hypertrophic cardiomyopathy: is the Frank-Starling law kaput?
Q58087435Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation
Q52662539Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy.
Q51446174Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy.
Q33903336Genotype-specific pathogenic effects in human dilated cardiomyopathy.
Q38184398Heart failure in congenital heart disease: the role of genes and hemodynamics
Q55399715High Fibroblast Growth Factor 23 concentrations in experimental renal failure impair calcium handling in cardiomyocytes.
Q39310653Historical perspective on heart function: the Frank-Starling Law.
Q52371503Hypertrophic Cardiomyopathy: A Vicious Cycle Triggered by Sarcomere Mutations and Secondary Disease Hits.
Q42515078Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Q49923294Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle
Q42877248Hypothesis and theory: mechanical instabilities and non-uniformities in hereditary sarcomere myopathies
Q36200058In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene
Q33707376Influence of a constitutive increase in myofilament Ca(2+)-sensitivity on Ca(2+)-fluxes and contraction of mouse heart ventricular myocytes
Q34080849Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy
Q36563967LRRC10 is required to maintain cardiac function in response to pressure overload.
Q55410018Late sodium current inhibitors to treat exercise-induced obstruction in hypertrophic cardiomyopathy: an in vitro study in human myocardium.
Q50850267Length dependence of striated muscle force generation is controlled by phosphorylation of cTnI at serines 23/24.
Q28308168Length-dependent activation is modulated by cardiac troponin I bisphosphorylation at Ser23 and Ser24 but not by Thr143 phosphorylation
Q34608313Length-dependent changes in contractile dynamics are blunted due to cardiac myosin binding protein-C ablation
Q42320941Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios.
Q39138183Linking myofilaments to sudden cardiac death: recent advances.
Q28242903Long term ablation of protein kinase A (PKA)-mediated cardiac troponin I phosphorylation leads to excitation-contraction uncoupling and diastolic dysfunction in a knock-in mouse model of hypertrophic cardiomyopathy
Q41013371MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
Q38184402Maladaptive modifications in myofilament proteins and triggers in the progression to heart failure and sudden death
Q89829948Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations
Q42622003Mechanical aberrations in hypetrophic cardiomyopathy: emerging concepts
Q92012621Metabolic Alterations in Inherited Cardiomyopathies
Q61651710Metabolic changes in hypertrophic cardiomyopathies: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology
Q28255887Modelling sarcomeric cardiomyopathies in the dish: from human heart samples to iPSC cardiomyocytes
Q37696227Muscle dysfunction in hypertrophic cardiomyopathy: what is needed to move to translation?
Q101224925Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes
Q27314792Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.
Q44354566Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy
Q37009456Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation
Q38895391Myocardial energy depletion and dynamic systolic dysfunction in hypertrophic cardiomyopathy.
Q92948948Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy
Q41710182Myosin filament activation in the heart is tuned to the mechanical task.
Q46650156Omecamtiv Mecarbil Abolishes Length-Mediated Increase in Guinea Pig Cardiac Myofiber Ca2+ Sensitivity
Q41627235Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.
Q38265757Pathomechanisms in heart failure: the contractile connection.
Q28087567Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
Q89046157Phenotyping cardiomyopathy in adult zebrafish
Q28239800Phosphorylation of protein kinase C sites Ser42/44 decreases Ca(2+)-sensitivity and blunts enhanced length-dependent activation in response to protein kinase A in human cardiomyocytes
Q45894311Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations
Q91710630Pressure Overload Is Associated With Low Levels of Troponin I and Myosin Binding Protein C Phosphorylation in the Hearts of Patients With Aortic Stenosis
Q61800649Proposed mechanism for the length dependence of the force developed in maximally activated muscles
Q92027205Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy
Q36339414Rapid large-scale purification of myofilament proteins using a cleavable His6-tag
Q96304601Regulation of Myofilament Contractile Function in Human Donor and Failing Hearts
Q46149450Relationship of cardiac troponin to systolic global longitudinal strain in hypertrophic cardiomyopathy.
Q34219487Remodeling of the heart in hypertrophy in animal models with myosin essential light chain mutations
Q27694507Research priorities in sarcomeric cardiomyopathies
Q42380685Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres
Q26800070Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection
Q34626001Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
Q40042653Selective phosphorylation of PKA targets after β-adrenergic receptor stimulation impairs myofilament function in Mybpc3-targeted HCM mouse model.
Q51128798Sexual dimorphic response to exercise in hypertrophic cardiomyopathy-associated MYBPC3-targeted knock-in mice.
Q28607749Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs
Q39389993The Frank-Starling Law: a jigsaw of titin proportions
Q47687870The continuing evolution of cardiac troponin I biomarker analysis: from protein to proteoform
Q88528489The force and stiffness of myosin motors in the isometric twitch of a cardiac trabecula and the effect of the extracellular calcium concentration
Q90711478The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM
Q36646689Titin strain contributes to the Frank-Starling law of the heart by structural rearrangements of both thin- and thick-filament proteins
Q34302767Troponin I phosphorylation in human myocardium in health and disease.
Q28304882Ubiquitin-proteasome system and hereditary cardiomyopathies
Q36998382Uncoupling of myofilament Ca2+ sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate
Q38743378Untangling the Biology of Genetic Cardiomyopathies with Pluripotent Stem Cell Disease Models
Q28079573Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Q38722030β-adrenergic receptor signalling and its functional consequences in the diseased heart.

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