Thin filament mutations: developing an integrative approach to a complex disorder (Q28307606)

Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies

Europe PubMed Central

title

Thin filament mutations: developing an integrative approach to a complex disorder (English)

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author name string

Jil C Tardiff

series ordinal

1

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language of work or name

English

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publication date

18 March 2011

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published in

Circulation Research

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volume

108

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issue

6

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page(s)

765-82

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cites work

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A novel mutant cardiac troponin C disrupts molecular motions critical for calcium binding affinity and cardiomyocyte contractility

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Phosphorylation-dependent conformational transition of the cardiac specific N-extension of troponin I in cardiac troponin

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Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression

20 March 2017

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Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity

20 March 2017

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Gene mutations in apical hypertrophic cardiomyopathy

20 March 2017

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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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Calcium, thin filaments, and the integrative biology of cardiac contractility

20 March 2017

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Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated 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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Structure of the core domain of human cardiac troponin in the Ca(2 )-saturated form

20 March 2017

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

20 March 2017

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The structure of the carboxyl terminus of striated alpha-tropomyosin in solution reveals an unusual parallel arrangement of interacting alpha-helices

20 March 2017

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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

20 March 2017

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Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in 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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Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

20 March 2017

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Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

20 March 2017

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Deciphering the design of the tropomyosin molecule

20 March 2017

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Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

20 March 2017

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Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

20 March 2017

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

20 March 2017

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Inherited and de novo mutations in the cardiac actin gene cause 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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Actin Mutations in Dilated Cardiomyopathy, a Heritable Form of Heart Failure

20 March 2017

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Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

20 March 2017

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Sudden death due to troponin T mutations

20 March 2017

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Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy

20 March 2017

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Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy

20 March 2017

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

20 March 2017

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Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

20 March 2017

1 reference

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Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

20 March 2017

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A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

20 March 2017

1 reference

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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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Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice

20 March 2017

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Local destabilization of the tropomyosin coiled coil gives the molecular flexibility required for actin binding

20 March 2017

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Regulation of contraction in striated muscle

20 March 2017

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Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.

20 March 2017

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Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy

29 September 2017

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Coupled motions in enzyme catalysis

29 September 2017

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Unidirectional Brownian motion observed in an in silico single molecule experiment of an actomyosin motor

29 September 2017

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Effect of calcium-sensitizing mutations on calcium binding and exchange with troponin C in increasingly complex biochemical systems

29 September 2017

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

29 September 2017

1 reference

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Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2 fluxes

29 September 2017

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Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

29 September 2017

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Investigations into tropomyosin function using mouse models

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Temporal and mutation-specific alterations in Ca2 homeostasis differentially determine the progression of cTnT-related cardiomyopathies in murine models

29 September 2017

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Myofilament Ca2 sensitization causes susceptibility to cardiac arrhythmia in mice.

29 September 2017

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Atomic detail of chemical transformation at the transition state of an enzymatic reaction

29 September 2017

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Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology

29 September 2017

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Structural basis for the regulation of muscle contraction by troponin and tropomyosin

29 September 2017

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Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

29 September 2017

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Negative charges at protein kinase C sites of troponin I stabilize the inactive state of actin

29 September 2017

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R-92L and R-92W mutations in cardiac troponin T lead to distinct energetic phenotypes in intact mouse hearts

29 September 2017

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Disposition and dynamics: interdomain orientations in troponin

29 September 2017

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An atomic model of the thin filament in the relaxed and Ca2 -activated states.

29 September 2017

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Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes

29 September 2017

1 reference

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Regulation of muscle contraction by tropomyosin and troponin: how structure illuminates function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with 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=3075069

Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin

29 September 2017

1 reference

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Transgenesis and cardiac energetics: new insights into cardiac metabolism

29 September 2017

1 reference

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Covalent and noncovalent modification of thin filament action: the essential role of troponin in cardiac muscle regulation.

29 September 2017

1 reference

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Asymmetrical hypertrophy of the heart in young adults

29 September 2017

1 reference

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Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair

29 September 2017

1 reference

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The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Ca(2 )-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial 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=3075069

Alpha-cardiac actin is a novel disease gene in familial 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=3075069

Thin filament-mediated regulation of cardiac contraction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Investigation of a transgenic mouse model of familial 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=3075069

Roles for the troponin tail domain in thin filament assembly and regulation. A deletional study of cardiac troponin T.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Actomyosin interaction in striated muscle

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Calcium sensitive binding of troponin to actin-tropomyosin: a two-site model for troponin action

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

The structure of the amino terminus of tropomyosin is critical for binding to actin in the absence and presence of troponin.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Computational Characterization of Mutations in Cardiac Troponin T Known to Cause Familial Hypertrophic Cardiomyopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

How should hypertrophic cardiomyopathy be classified?

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Prevalence, Clinical Significance, and Genetic Basis of Hypertrophic Cardiomyopathy With Restrictive Phenotype

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Functional effects of the DCM mutant Gly159Asp Troponin C in skinned muscle fibres

27 November 2018

1 reference

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Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy

27 November 2018

1 reference

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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Ca2 -sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3075069

Tropomyosin's periods are quasi-equivalent for actin binding but have specific regulatory functions

27 November 2018

1 reference

12 December 2020

Molecular Arrangement of Troponin-T in the Thin Filament1

1 reference

12 December 2020

Independent FHC-related cardiac troponin T mutations exhibit specific alterations in myocellular contractility and calcium kinetics

1 reference

12 December 2020

Effects of two familial hypertrophic cardiomyopathy-causing mutations on alpha-tropomyosin structure and function

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

A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy

1 reference

12 December 2020

Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2 sensitivity of cardiac muscle contraction

1 reference

12 December 2020

Troponin and tropomyosin: proteins that switch on and tune in the activity of cardiac myofilaments

1 reference

12 December 2020

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

1 reference

12 December 2020

Idiopathic hypertrophic subaortic stenosis. Clinical analysis of 126 patients with emphasis on the natural history

1 reference

12 December 2020

Increased Ca2 affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I

1 reference

12 December 2020

Relation between extent of left ventricular hypertrophy and diastolic filling abnormalities in hypertrophic cardiomyopathy

1 reference

12 December 2020

An interplay between protein disorder and structure confers the Ca2 regulation of striated muscle

1 reference

12 December 2020

Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction

1 reference

12 December 2020

Rescue of tropomyosin-induced familial hypertrophic cardiomyopathy mice by transgenesis

1 reference

12 December 2020

Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease

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

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

1 reference

12 December 2020

Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations

1 reference

12 December 2020

Troponin. I. Preparation and physiological function

1 reference

12 December 2020

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy

1 reference

12 December 2020

Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy

1 reference

12 December 2020

10.1161/CIRCRESAHA.110.224170

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

21415410

1 reference