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

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

Distal arthrogryposes (DAs) are a group of disorders characterized by congenital contractures of distal limbs without overt neurological or muscle disease. Unexpectedly, mutations in genes encoding the fast skeletal muscle regulatory proteins troponin T (TnT), troponin I (TnI), and beta-tropomyosin...

Full description

Bibliographic Details
Main Authors:	Robinson, P, Lipscomb, S, Preston, L, Altin, E, Watkins, H, Ashley, C, Redwood, C
Format:	Journal article
Language:	English
Published:	2007

Similar Items

Mutations in fast skeletal troponin I, troponin T and beta-tropomyosin that cause distal arthrogryposis all enhance thin filament activation
by: Robinson, P, et al.
Published: (2005)

Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
by: Robinson, P, et al.
Published: (2003)

Using fluorescence emission spectroscopy to asses the Ca2+ affinity of reconstituted troponin and thin filaments containing cardiomyopathy causing mutations of troponin and alpha-tropomyosin
by: Robinson, P, et al.
Published: (2007)

Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
by: Mirza, M, et al.
Published: (2004)

Dilated cardiomyopathy causing mutations in cardiac troponin T (TNT), cardiac troponin C (TNC), and alpha tropomyosin (TM) reduce CA(2+) sensitivity and maximum calcium activation
by: Redwood, C, et al.
Published: (2004)

Hypertrophic and dilated cardiomyopathycausing mutations of troponin and alpha-tropomyosin have opposite effects on thin filament calcium binding
by: Robinson, P, et al.
Published: (2007)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
by: Burton, D, et al.
Published: (2002)

DCM troponin C mutant Gly159Asp blunts the response to troponin phosphorylation.
by: Preston, L, et al.
Published: (2007)

Effects of troponin C isoform on the action of the cardiotonic agent EMD 57033.
by: Lipscomb, S, et al.
Published: (2005)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
by: Robinson, P, et al.
Published: (2007)

Modulation of the effects of tropomyosin on actin and myosin conformational changes by troponin and Ca2+.
by: Borovikov, Y, et al.
Published: (2009)

The effect of HCM mutations in troponin T and troponin I on the calcium binding of human cardiac troponin
by: Redwood, C, et al.
Published: (2001)

Mechanical effects of human cardiac troponin C mutation Gly159Asp in exchanged rabbit psoas fibres
by: Preston, L, et al.
Published: (2004)

Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres.
by: Preston, L, et al.
Published: (2007)

Fast Skeletal Muscle Troponin and Tropomyosin as a Dietary Source of Antidiabetic and Antihypertensive Bioactive Peptides: An In Silico Study
by: Jorge Andrés Barrero, et al.
Published: (2023-02-01)

A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I.
by: Preston, L, et al.
Published: (2006)

Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin
by: Victoria V. Nefedova, et al.
Published: (2022-12-01)

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
by: Burton, D, et al.
Published: (2002)

Functional investigation of beta-tropomyosin mutations that cause congenital skeletal myopathies
by: Piers, A, et al.
Published: (2011)

Cardiac troponin and tropomyosin bind to F‐actin cooperatively, as revealed by fluorescence microscopy
by: Christopher Solís, et al.
Published: (2020-07-01)

The effect of the arthrogryposis-causing Arg91Gly mutation in beta-skeletal tropomyosin on its position on the thin filament and flexibility during the ATPase cycle
by: Simonyan, A, et al.
Published: (2013)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
by: Elliott, K, et al.
Published: (2000)

AMP-activated protein kinase phosphorylates cardiac troponin I and alters contractility of murine ventricular myocytes.
by: Oliveira, S, et al.
Published: (2012)

AMP-Activated protein kinase phosphorylates cardiac troponin i and alters contractility of murine ventricular myocytes
by: Oliveira, S, et al.
Published: (2012)

AMP-Activated Protein Kinase Phosphorylates Cardiac Troponin I and Alters Contractility of Murine Ventricular Myocytes
by: Oliveira, S, et al.
Published: (2012)

Investigating the Effect of Cardiomyopathy-Causing Mutations in Cardiac Troponin-T on Calcium Buffering In Situ
by: Robinson, P, et al.
Published: (2010)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
by: Abdulrazzak, H, et al.
Published: (2001)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
by: Robinson, P, et al.
Published: (2002)

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.
by: Robinson, P, et al.
Published: (2002)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
by: Elliott, K, et al.
Published: (2000)

Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay.
by: Bing, W, et al.
Published: (2000)

Purification of tropomyosin, paramyosin, actin, tubulin, troponin and kinases for chemiproteomics and its application to different scientific fields.
by: Tomas Erban
Published: (2011-01-01)

Dephosphorylation specificities of protein phosphatase for cardiac troponin I, troponin T, and sites within troponin T
Published: (2006-03-01)

A troponin I mutant known to cause hypertrophic cardiomyopathy shows reduced inhibition of Ca2+ independent tension
by: Burton, D, et al.
Published: (2000)

Cardiac troponin I is a potential novel substrate for AMP-activated protein kinase
by: Oliveira, S, et al.
Published: (2007)

Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
by: Carballo, S, et al.
Published: (2006)

Myofibrillar Ca(2+) sensitivity is uncoupled from troponin I phosphorylation in hypertrophic obstructive cardiomyopathy due to abnormal troponin T.
by: Bayliss, C, et al.
Published: (2013)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
by: Burton, D, et al.
Published: (2000)

Troponin Variants in Congenital Myopathies: How They Affect Skeletal Muscle Mechanics
by: Martijn van de Locht, et al.
Published: (2021-08-01)

Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca2+-sensitivity and suppress the modulation of Ca2+-sensitivity by troponin I phosphorylation
by: Messer, A, et al.
Published: (2016)