|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
These CM mutants were found to weakly induce the formation of disordered F-actin assemblies.
|
30844403 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Myosin-thick filaments containing their native complement of MyBP-C, and actin-thin filaments decorated with the troponin/tropomyosin calcium regulatory proteins, were isolated from a subgroup of the HCM (n = 4) and donor (n = 5) heart samples.
|
30550750 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of α-actin gene (ACTC1) is a rare cause of HCM.
|
30600190 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we present functional data showing that four separate HCM mutations located at the myosin head-tail (R249Q, H251N) and head-head (D382Y, R719W) interfaces of a folded-back sequestered state referred to as the interacting heads motif (IHM) lead to a significant increase in the number of heads functionally accessible for interaction with actin.
|
31213605 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
M-class hypertrophic cardiomyopathy cardiac actin mutations increase calcium sensitivity of regulated thin filaments.
|
31481237 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Phosphorylation of cardiac myosin-binding protein C (cMyBP-C), encoded by MYBPC3, increases the availability of myosin heads for interaction with actin thus enhancing contraction. cMyBP-C phosphorylation level is lower in septal myectomies of patients with hypertrophic cardiomyopathy (HCM) than in non-failing hearts.
|
31796859 |
2019 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To gain mechanistic insight and guide pharmacological rescue, this study models HCM using isogenic pairs of human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) carrying the E99K-ACTC1 cardiac actin mutation.
|
30392975 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction.
|
29440008 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Herein, five <i>c-MYBPC3</i> missense variants clinically associated with HCM were investigated; namely V1 (R177H), V2 (A216T), V3 (E258K), V4 (E441K) and double mutation V5 (V3 + V4), all located within the C1 and C2 domains of MyBP-C, a region known to interact with sarcomeric protein, actin.
|
30446606 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Coefficient of variance for cMyBP-C/α-actin staining for each patient showed a significant difference between both groups (17.30 ± 4.08 vs. 5.18 ± 0.65% in MYBPC3<sub>mut</sub> vs. HCM<sub>smn</sub>, p = .02).
|
30170119 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human adults with inheritable hypertrophic cardiomyopathy (HCM) upregulate skeletal actin in ventriculum probably compensating the diseased muscle's inability to meet demand by adjusting βmys force-velocity characteristics.
|
30463911 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Given the high degree of sequence conservation of actin proteins and the range of protein-protein interactions actin participates in, mutations in cardiac actin leading to HCM are particularly interesting.
|
29719515 |
2018 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
C57Bl6 × CBA/Ca mice carrying a cardiac actin ( ACTC) E99K (Glu99Lys) mutation reproduce many aspects of human hypertrophic cardiomyopathy, including increased myofilament Ca<sup>2+</sup> sensitivity and sudden death in a proportion (up to 40%) of young (28-40 day old) animals.
|
28887330 |
2017 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the effect of 7 Hypertrophic Cardiomyopathy (HCM)-causing mutations in troponin T (TnT) on troponin function in thin filaments reconstituted with actin and human cardiac tropomyosin.
|
27036851 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, the development of drugs designed to decrease isometric force by reducing the duty ratio (the proportion of time myosin spends bound to actin during its ATPase cycle) has been proposed for the treatment of hypertrophic cardiomyopathy.
|
28119616 |
2016 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compromised interactions of K206I with actin and hcTnC may lead to impaired relaxation and HCM.
|
26553696 |
2015 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One hypertrophic cardiomyopathy (HCM) causing actin mutant A331P actin was also expressed and studied similarly, and the results were compared to those of the WT actin.
|
24793351 |
2014 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our studies on Tm have demonstrated that: (1) Tm positively enhances the hydrophobic interaction between actin and myosin in the "closed state", which in turn enhances the isometric tension; (2) Tm's seven periodical repeats carry distinct functions, with the 3rd period being essential for the tension enhancement; (3) Tm mutants lead to HCM by impairing the relaxation on one hand, and lead to DCM by over inhibition of the AM interaction on the other hand.
|
23700264 |
2013 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus our data demonstrate that a mutant actin can be integrated into cardiomyocyte thin filaments and by its reduced mode of myosin interaction might be the basis for the initiation of HCM.
|
22643837 |
2012 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two cardiomyopathic mutations were expressed in human cardiac actin, using a Baculovirus/insect cell system; E99K is associated with hypertrophic cardiomyopathy whereas R312H is associated with dilated cardiomyopathy.
|
19799913 |
2010 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypertrophic Cardiomyopathy (HCM) is a common primary cardiac disorder defined by a hypertrophied left ventricle, is one of the main causes of sudden death in young athletes, and has been associated with mutations in most sarcomeric proteins (tropomyosin, troponin T and I, and actin, etc.).
|
18572189 |
2008 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have tested the hypothesis that the protein-folding pathway plays a role in disease development for two actin variants associated with DCM and six associated with HCM.
|
15819894 |
2005 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two families shared a cardiac actin Glu101Lys missense mutation; all members of both families with clinical manifestations of HCM (n=16) had apical hypertrophy.
|
16267253 |
2005 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy.
|
12075240 |
2002 |
|
Hypertrophic Cardiomyopathy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in genes encoding the thin filament proteins actin and tropomyosin cause hypertrophic cardiomyopathy.
|
11273725 |
2001 |