The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy. (Q64883689)

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6 April 2020

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16 July 2021

The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy (English)

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6 April 2020

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30 June 2019

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6 November 2020

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14 September 2019

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28 September 2019

macromolecular substance

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16 November 2019

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11 December 2019

cytoskeletal proteins

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11 December 2019

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6 November 2020

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16 July 2021

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29997361%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

Steven Marston

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http://europepmc.org/abstract/PMC/6073311

30 June 2019

language of work or name

English

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publication date

11 July 2018

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6 April 2020

6 November 2020

16 July 2021

International Journal of Molecular Sciences

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30 June 2019

14 September 2019

28 September 2019

16 November 2019

11 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29997361%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

6 November 2020

16 July 2021

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6 April 2020

issue

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Creative Commons Attribution

6 April 2020

7 references

30 June 2019

14 September 2019

28 September 2019

16 November 2019

11 December 2019

6 November 2020

16 July 2021

0 references

Natural history of hypertrophic cardiomyopathy in the elderly

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12 December 2020

In vitro motility analysis of actin-tropomyosin regulation by troponin and calcium. The thin filament is switched as a single cooperative unit

1 reference

12 December 2020

The regulatory switch of the muscle thin filament: Ca2+ or myosin heads?

1 reference

12 December 2020

Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament

1 reference

12 December 2020

Molecular genetics of actin function

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Steric-model for activation of muscle thin filaments 1 1 Edited by P.E. Wright

1 reference

12 December 2020

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

1 reference

12 December 2020

The muscle thin filament as a classical cooperative/allosteric regulatory system

1 reference

12 December 2020

Tropomyosin and troponin regulation of wild type and E93K mutant actin filaments from Drosophila flight muscle. Charge reversal on actin changes actin-tropomyosin from on to off state

1 reference

12 December 2020

Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

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12 December 2020

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

1 reference

12 December 2020

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

1 reference

12 December 2020

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The Genetic Basis for Cardiomyopathy

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12 December 2020

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

1 reference

12 December 2020

Three-dimensional image reconstruction of dephosphorylated smooth muscle heavy meromyosin reveals asymmetry in the interaction between myosin heads and placement of subfragment 2

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients

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12 December 2020

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

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12 December 2020

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

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12 December 2020

Production of human skeletal alpha-actin proteins by the baculovirus expression system

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12 December 2020

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

1 reference

12 December 2020

Modulation of thin filament activation by breakdown or isoform switching of thin filament proteins: physiological and pathological implications

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12 December 2020

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

1 reference

12 December 2020

Evolution of expression of cardiac phenotypes over a 4-year period in the beta-myosin heavy chain-Q403 transgenic rabbit model of human hypertrophic cardiomyopathy

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12 December 2020

Hypertrophic cardiomyopathy

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12 December 2020

Expression of a nonpolymerizable actin mutant in Sf9 cells

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12 December 2020

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

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12 December 2020

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

12 December 2020

Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

1 reference

12 December 2020

Sarcomeric protein mutations in dilated cardiomyopathy

1 reference

12 December 2020

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy

1 reference

12 December 2020

E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics

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12 December 2020

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

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12 December 2020

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

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12 December 2020

The pathogenesis of ACTA1-related congenital fiber type disproportion

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12 December 2020

The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation

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12 December 2020

Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation

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12 December 2020

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

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12 December 2020

α-cardiac actin mutations produce atrial septal defects

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12 December 2020

Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.

1 reference

12 December 2020

The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy

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12 December 2020

Head-head and head-tail interaction: a general mechanism for switching off myosin II activity in cells

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12 December 2020

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

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12 December 2020

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies

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12 December 2020

Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

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12 December 2020

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

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12 December 2020

Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin

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12 December 2020

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

1 reference

12 December 2020

Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro

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12 December 2020

Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.

1 reference

12 December 2020

Functional diversity among a family of human skeletal muscle myosin motors

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12 December 2020

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

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12 December 2020

Insights into human beta-cardiac myosin function from single molecule and single cell studies

1 reference

12 December 2020

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?

1 reference

12 December 2020

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

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12 December 2020

Tropomyosin position on F-actin revealed by EM reconstruction and computational chemistry.

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12 December 2020

How Do Mutations in Contractile Proteins Cause the Primary Familial Cardiomyopathies?

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12 December 2020

A New State of Cardiac Myosin with Very Slow ATP Turnover: A Potential Cardioprotective Mechanism in the Heart

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12 December 2020

Inherited Cardiomyopathies

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12 December 2020

Angiotensin II-induced dilated cardiomyopathy in Balb/c but not C57BL/6J mice

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12 December 2020

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse

1 reference

12 December 2020

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

1 reference

12 December 2020

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy

1 reference

12 December 2020

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

1 reference

12 December 2020

Myosinopathies: pathology and mechanisms

1 reference

12 December 2020

Atomic model of the human cardiac muscle myosin filament.

1 reference

12 December 2020

Myosin regulatory light chain (RLC) phosphorylation change as a modulator of cardiac muscle contraction in disease

1 reference

12 December 2020

Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity

1 reference

12 December 2020

Mechanical and energetic properties of papillary muscle from ACTC E99K transgenic mouse models of hypertrophic cardiomyopathy

1 reference

12 December 2020

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients

1 reference

12 December 2020

Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

1 reference

12 December 2020

Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin

1 reference

12 December 2020

Hypertrophic and dilated cardiomyopathy: four decades of basic research on muscle lead to potential therapeutic approaches to these devastating genetic diseases

1 reference

12 December 2020

Structural implications of β-cardiac myosin heavy chain mutations in human disease

1 reference

12 December 2020

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy

1 reference

12 December 2020

Energy landscapes reveal the myopathic effects of tropomyosin mutations

1 reference

12 December 2020

A systematic nomenclature for mammalian tropomyosin isoforms

1 reference

12 December 2020

The dilated cardiomyopathy-causing mutation ACTC E361G in cardiac muscle myofibrils specifically abolishes modulation of Ca(2+) regulation by phosphorylation of troponin I

1 reference

12 December 2020

The myosin mesa and a possible unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathy

1 reference

12 December 2020

The functional effect of dilated cardiomyopathy mutation (R144W) in mouse cardiac troponin T is differently affected by α- and β-myosin heavy chain isoforms

1 reference

12 December 2020

The R21C Mutation in Cardiac Troponin I Imposes Differences in Contractile Force Generation between the Left and Right Ventricles of Knock-In Mice

1 reference

12 December 2020

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

1 reference

12 December 2020

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

1 reference

12 December 2020

Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β-cardiac myosin

1 reference

12 December 2020

Structural determinants of muscle thin filament cooperativity

1 reference

12 December 2020

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.

1 reference

12 December 2020

Myosin light chain phosphorylation enhances contraction of heart muscle via structural changes in both thick and thin filaments

1 reference

12 December 2020

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

1 reference

12 December 2020

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

1 reference

12 December 2020

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

1 reference

12 December 2020

A Small Molecule Inhibitor of Sarcomere Contractility Acutely Relieves Left Ventricular Outflow Tract Obstruction in Feline Hypertrophic Cardiomyopathy

1 reference

12 December 2020

Myofilament Calcium Sensitivity: Role in Regulation of In vivo Cardiac Contraction and Relaxation

1 reference

12 December 2020

The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations

1 reference

12 December 2020

The role of super-relaxed myosin in skeletal and cardiac muscle

1 reference

12 December 2020

Switching Muscles On and Off in Steps: The McKillop-Geeves Three-State Model of Muscle Regulation

1 reference

12 December 2020

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

1 reference

12 December 2020

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

1 reference

12 December 2020

Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light

1 reference

12 December 2020

Age- and strain-related aberrant Ca2+ release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy.

1 reference

12 December 2020

Distortion of the Actin A-Triad Results in Contractile Disinhibition and Cardiomyopathy.

1 reference

12 December 2020

Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes

1 reference

12 December 2020

Tropomyosin Must Interact Weakly with Actin to Effectively Regulate Thin Filament Function.

1 reference

12 December 2020

Interacting-heads motif has been conserved as a mechanism of myosin II inhibition since before the origin of animals

1 reference

12 December 2020

Thick Filament Protein Network, Functions, and Disease Association

1 reference

12 December 2020

Identifiers

DOI

10.3390/IJMS19072020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29997361%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29997361%20AND%20SRC:MED&resulttype=core&format=json

6 April 2020

PubMed publication ID

29997361

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29997361%20AND%20SRC:MED&resulttype=core&format=json