Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function (Q24338449)

Tropomyosin 2

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Troponin I2, fast skeletal type

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Troponin T3, fast skeletal type

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actin binding

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distal arthrogryposis

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inferred from title

author

Hugh Christian Watkins

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author name string

Paul Robinson

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Simon Lipscomb

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Laura C Preston

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Elissa Altin

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Christopher C Ashley

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Charles S Redwood

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

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language of work or name

English

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publication date

March 2007

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published in

FASEB Journal

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volume

21

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issue

3

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page(s)

896-905

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cites work

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7 January 2021

A revised and extended classification of the distal arthrogryposes

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Distal arthrogryposis type 1: clinical analysis of a large kindred

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Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

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Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility.

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

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Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.

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7 January 2021

Crossbridge and tropomyosin positions observed in native, interacting thick and thin filaments

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Activation and relaxation mechanisms in single muscle fibres.

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The 14-fold periodicity in alpha-tropomyosin and the interaction with actin.

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7 Preparation of myosin and its subfragments from rabbit skeletal muscle

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Purification of muscle actin

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Use of T7 RNA polymerase to direct expression of cloned genes

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7 January 2021

Dual requirement for flexibility and specificity for binding of the coiled-coil tropomyosin to its target, actin

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7 January 2021

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

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Cooperative regulation of myosin-actin interactions by a continuous flexible chain I: actin-tropomyosin systems.

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Cooperative regulation of myosin-actin interactions by a continuous flexible chain II: actin-tropomyosin-troponin and regulation by calcium.

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7 January 2021

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

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7 January 2021

Strain-dependent cross-bridge cycle for muscle.

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Thin filament activation probed by fluorescence of N-((2-(iodoacetoxy)ethyl)-N-methyl)amino-7-nitrobenz-2-oxa-1,3-diazole-labeled troponin I incorporated into skinned fibers of rabbit psoas muscle

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A practical guide to the preparation of Ca2+ buffers

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The Genetic Basis for Cardiomyopathy

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Arthrogryposis multiplex congenita

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7 January 2021

The stability of tropomyosin, a two-stranded coiled-coil protein, is primarily a function of the hydrophobicity of residues at the helix-helix interface.

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7 January 2021

Preferential assembly of the tropomyosin heterodimer: equilibrium studies

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7 January 2021

Functions of tropomyosin's periodic repeats

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7 January 2021

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

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7 January 2021

Cooperativity and switching within the three-state model of muscle regulation.

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7 January 2021

Factors contributing to troponin exchange in myofibrils and in solution

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7 January 2021

Effects of troponin C isoform on the action of the cardiotonic agent EMD 57033.

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7 January 2021

Deciphering the design of the tropomyosin molecule

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7 January 2021

The C terminus of cardiac troponin I is essential for full inhibitory activity and Ca2+ sensitivity of rat myofibrils

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7 January 2021

Mapping subdomains in the C-terminal region of troponin I involved in its binding to troponin C and to thin filament

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7 January 2021

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

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7 January 2021

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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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

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7 January 2021

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

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7 January 2021

A new look at thin filament regulation in vertebrate skeletal muscle.

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7 January 2021

Arthrogryposis Multiplex Congenita

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7 January 2021

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy

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7 January 2021

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

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7 January 2021

Regulation of contraction in striated muscle

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7 January 2021

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

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7 January 2021

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

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7 January 2021