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

Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca2+-sensitivity and suppress the modulation of Ca2+-sensitivity by troponin I phosphorylation

(2016) Andrew E. Messer et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Primary Effects of HCM Mutations in Humans And Cats

(2016) Andrew E. Messer et al.   BIOPHYSICAL JOURNAL

TPM3deletions cause a hypercontractile congenital muscle stiffness phenotype

(2015) Sandra Donkervoort et al.   ANNALS OF NEUROLOGY

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

(2015) Maria Papadaki et al.   CARDIOVASCULAR RESEARCH

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

(2015) Chad M. Warren et al.   Circulation-Cardiovascular Genetics

In Vivo Analysis of Troponin C Knock-In (A8V) MiceCLINICAL PERSPECTIVE

(2015) Adriano S. Martins et al.   Circulation-Cardiovascular Genetics

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

(2015) Monica X. Li et al.   GENE

Muscle weakness inTPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

(2015) Michaela Yuen et al.   HUMAN MOLECULAR GENETICS

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

(2015) Chen-Ching Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) Chad M. Warren et al.   Circulation-Cardiovascular Genetics

In Vivo Analysis of Troponin C Knock-In (A8V) MiceCLINICAL PERSPECTIVE

(2015) Adriano S. Martins et al.   Circulation-Cardiovascular Genetics

Knock-in mice harboring a Ca2+ desensitizing mutation in cardiac troponin C develop early onset dilated cardiomyopathy

(2015) Bradley K. McConnell et al.   Frontiers in Physiology

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

(2015) Gianina Ravenscroft et al.   BRAIN

Ca2+-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 filament sliding

(2014) Nicolas M. Brunet et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

The Dilated Cardiomyopathy-Causing Mutation ACTC E361G in Cardiac Muscle Myofibrils Specifically Abolishes Modulation of Ca 2+ Regulation by Phosphorylation of Troponin I

(2014) Petr G. Vikhorev et al.   BIOPHYSICAL JOURNAL

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

(2014) Minttu Marttila et al.   HUMAN MUTATION

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

(2013) Weihua Song et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

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

(2013) Nancy Mokbel et al.   BRAIN

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

(2013) Massimiliano Memo et al.   CARDIOVASCULAR RESEARCH

Perturbed Length-Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations

(2013) Vasco Sequeira et al.   CIRCULATION RESEARCH

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

(2013) Steven Marston et al.   HUMAN MOLECULAR GENETICS

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

(2013) Ray E. Hershberger et al.   Nature Reviews Cardiology

Familial Hypertrophic Cardiomyopathy Related Cardiac Troponin C L29Q Mutation Alters Length-Dependent Activation and Functional Effects of Phosphomimetic Troponin I*

(2013) Alison Y. Li et al.   PLoS One

Myofibrillar Ca2+ sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T

(2012) Christopher R. Bayliss et al.   CARDIOVASCULAR RESEARCH

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

(2012) J. Ochala et al.   HUMAN MOLECULAR GENETICS

A Mutation inTNNC1-encoded Cardiac Troponin C, TNNC1-A31S, Predisposes to Hypertrophic Cardiomyopathy and Ventricular Fibrillation

(2012) Michelle S. Parvatiyar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Bodvaël Fraysse et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

(2012) Steven J. Ford et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation

(2012) R. K. Jain et al.   NEUROLOGY

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness inTPM2-related nemaline and cap myopathy

(2011) Minttu Marttila et al.   BIOCHEMICAL JOURNAL

Functional Characterization ofTNNC1Rare Variants Identified in Dilated Cardiomyopathy

(2011) Jose Renato Pinto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) Weihua Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) Steven B. Marston   Journal of Cardiovascular Translational Research

Predicting Cardiomyopathic Phenotypes by Altering Ca2+Affinity of Cardiac Troponin C

(2010) Michelle S. Parvatiyar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Investigation of a transgenic mouse model of familial dilated cardiomyopathy

(2010) Weihua Song et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

(2010) Neal K. Lakdawala et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

(2009) Sebastian Carballo et al.   CIRCULATION RESEARCH

Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients With Dilated Cardiomyopathy

(2009) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Functional Analysis of a Unique Troponin C Mutation, GLY159ASP, that Causes Familial Dilated Cardiomyopathy, Studied in Explanted Heart Muscle

(2009) Emma C. Dyer et al.   Circulation-Heart Failure

A Functional and Structural Study of Troponin C Mutations Related to Hypertrophic Cardiomyopathy

(2009) Jose Renato Pinto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) R. John Solaro et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

(2008) W. Glenn L. Kerrick et al.   FASEB JOURNAL

Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice

(2008) Franz Baudenbacher et al.   JOURNAL OF CLINICAL INVESTIGATION