(Q28079573)

title

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

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

Steven B. Marston

series ordinal

1

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language of work or name

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26 September 2016

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published in

Frontiers in Physiology

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

415

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

2 June 2020

cites work

1 reference

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

20 March 2017

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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

20 March 2017

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Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy

20 March 2017

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Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein

20 March 2017

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Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

20 March 2017

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Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization

20 March 2017

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

20 March 2017

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Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

20 March 2017

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

20 March 2017

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

20 March 2017

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

20 March 2017

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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

20 March 2017

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A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation

20 March 2017

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

20 March 2017

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Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

20 March 2017

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Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy

20 March 2017

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Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium

20 March 2017

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

20 March 2017

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Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs

20 March 2017

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Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation

20 March 2017

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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

29 September 2017

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Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Constitutive phosphorylation of cardiac myosin regulatory light chain prevents development of hypertrophic cardiomyopathy in mice

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Uncoupling of myofilament Ca2+ sensitivity from troponin I phosphorylation by mutations can be reversed by epigallocatechin-3-gallate

29 September 2017

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

29 September 2017

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Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-terminus of cardiac troponin T: Effects of familial hypertrophic cardiomyopathy mutations cTnI R145G and cTnT R278C, alone and in combination, on fil

29 September 2017

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Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*

29 September 2017

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Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

29 September 2017

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

29 September 2017

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Effects of R92 mutations in mouse cardiac troponin T are influenced by changes in myosin heavy chain isoform

29 September 2017

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Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

29 September 2017

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Green Tea Catechin Normalizes the Enhanced Ca2+ Sensitivity of Myofilaments Regulated by a Hypertrophic Cardiomyopathy-Associated Mutation in Human Cardiac Troponin I (K206I)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Knock-in mice harboring a Ca(2+) desensitizing mutation in cardiac troponin C develop early onset dilated cardiomyopathy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5035734

Myofibrillar Ca(2+) sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T.

2 June 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Effect of Hypertrophic Cardiomyopathy Mutations in Human Cardiac Muscle α -tropomyosin (Asp175Asn and Glu180Gly) on the Regulatory Properties of Human Cardiac Troponin Determined by in vitro Motility Assay

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Mutations of hydrophobic residues in the N-terminal domain of troponin C affect calcium binding and exchange with the troponin C-troponin I96-148 complex and muscle force production.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Effects of phosphorylation and mutation R145G on human cardiac troponin I function.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Regulation of systolic [Ca2+]i and cellular Ca2+ flux balance in rat ventricular myocytes by SR Ca2+, L-type Ca2+ current and diastolic [Ca2+]i

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Familial hypertrophic cardiomyopathy mutations in troponin I (K183D, G203S, K206Q) enhance filament sliding

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2016.00415

The calcium and magnesium binding sites on cardiac troponin and their role in the regulation of myofibrillar adenosine triphosphatase

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiomyopathic tropomyosin mutations that increase thin filament Ca2+ sensitivity and tropomyosin N-domain flexibility

1 reference

12 December 2020

Estimate of net calcium fluxes and sarcoplasmic reticulum calcium content during systole in rat ventricular myocytes

1 reference

12 December 2020

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes

1 reference

12 December 2020

Identifiers

DOI

10.3389/FPHYS.2016.00415

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27725803%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

PubMed publication ID

27725803

2 references