Functional investigation of troponin with the homozygous HCM mutation, TNNT2 K280N, obtained from an explanted heart

Functional investigation of troponin with the homozygous HCM mutation, TNNT2 K280N, obtained from an explanted heart

Manylion Llyfryddiaeth
Prif Awduron:	Bayliss, C, Messer, A, Leung, M, Ward, D, Van Der Velden, J, Poggesi, C, Redwood, C, Marston, S
Fformat:	Conference item
Cyhoeddwyd:	2012

Eitemau Tebyg

The HCM-associated cardiac Troponin T mutation K280N causes reduced responsiveness to protein kinase A
gan: Van Der Velden, J, et al.
Cyhoeddwyd: (2012)

The HCM-Associated Cardiac Troponin T Mutation K280N Increases the Energetic Cost of Tension Generation in Human Cardiac Myofibrils
gan: Ferrara, C, et al.
Cyhoeddwyd: (2013)

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

Low expression of the K280N TNNT2 mutation is sufficient to increase basal myofilament activation in human hypertrophy cardiomyopathy
gan: Vasco Sequeira, et al.
Cyhoeddwyd: (2022-09-01)

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

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

In vitro motility studies of HCM and DCM mutations in cardiac muscle actin
gan: Dyer, E, et al.
Cyhoeddwyd: (2007)

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

A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy
gan: James W. McNamara, et al.
Cyhoeddwyd: (2020-11-01)

Evidence for haploinsufficiency as the mechanism of action of MyBP-C mutations that cause HCM
gan: Carballo, S, et al.
Cyhoeddwyd: (2008)

HCM and DCM mutations in thin filament proteins have opposite effects on in vitro motility
gan: Marston, S, et al.
Cyhoeddwyd: (2002)

Cardiac Troponin T (TNNT2) plays a potential oncogenic role in colorectal carcinogenesis
gan: Yifan Liu, et al.
Cyhoeddwyd: (2023-07-01)

HCM and DCM mutations in thin filament proteins have opposite effects on regulation of contractility in vitro
gan: Redwood, C, et al.
Cyhoeddwyd: (2003)

Correction: Cardiac Troponin T (TNNT2) plays a potential oncogenic role in colorectal carcinogenesis
gan: Yifan Liu, et al.
Cyhoeddwyd: (2023-12-01)

HCM and DCM mutations in cardiac thin filament proteins have opposite effects on the regulation of contractility in vitro
gan: Redwood, C, et al.
Cyhoeddwyd: (2003)

Mouse HCM Model Expression E99K ACTC Mutation Reproduces the Clinical HCM Phenotype
gan: Song, W, et al.
Cyhoeddwyd: (2009)

Genotype-Driven Pathogenesis of Atrial Fibrillation in Hypertrophic Cardiomyopathy: The Case of Different TNNT2 Mutations
gan: Josè Manuel Pioner, et al.
Cyhoeddwyd: (2022-04-01)

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

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

Pressure Overload Is Associated With Low Levels of Troponin I and Myosin Binding Protein C Phosphorylation in the Hearts of Patients With Aortic Stenosis
gan: O’neal Copeland, et al.
Cyhoeddwyd: (2020-03-01)

Increased Myocardial Oxygen Consumption Precedes Contractile Dysfunction in Hypertrophic Cardiomyopathy Caused by Pathogenic TNNT2 Gene Variants
gan: Rahana Y. Parbhudayal, et al.
Cyhoeddwyd: (2020-04-01)

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

Nutraceuticals silybin B, resveratrol, and epigallocatechin-3 gallate-bind to cardiac muscle troponin to restore the loss of lusitropy caused by cardiomyopathy mutations in vitro, in vivo, and in silico
gan: Yang, Z, et al.
Cyhoeddwyd: (2024)

Interaction analyses elucidate the pathophysiology of HCM-causing missense mutations in cardiac myosin binding protein-C.
gan: Moolman-Smook, J, et al.
Cyhoeddwyd: (2001)

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

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

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

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

A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt
gan: Heba Sh. Kassem, et al.
Cyhoeddwyd: (2017-10-01)

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
gan: Redwood, C, et al.
Cyhoeddwyd: (2004)

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

Slower calcium handling balances faster cross-bridge cycling in human MYBPC3 HCM
gan: Pioner, JM, et al.
Cyhoeddwyd: (2023)

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
gan: Robinson, P, et al.
Cyhoeddwyd: (2007)

Investigating the role of uncoupling of Troponin I phosphorylation from changes in myofibrillar Ca2+-sensitivity in the pathogenesis of Cardiomyopathy
gan: Andrew Easton Messer, et al.
Cyhoeddwyd: (2014-08-01)

Nutraceuticals silybin B, resveratrol, and epigallocatechin-3 gallate-bind to cardiac muscle troponin to restore the loss of lusitropy caused by cardiomyopathy mutations in vitro, in vivo, and in silico
gan: Zeyu Yang, et al.
Cyhoeddwyd: (2024-12-01)

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

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.
gan: Robinson, P, et al.
Cyhoeddwyd: (2002)

A novel interaction between the C5 and C8 domains of myosin binding protein-C and its modulation by HCM mutations
gan: Flashman, E, et al.
Cyhoeddwyd: (2002)

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

Cardiac Overexpression of XIN Prevents Dilated Cardiomyopathy Caused by TNNT2 ΔK210 Mutation
gan: Bin Li, et al.
Cyhoeddwyd: (2021-06-01)