Key result
The actc1a Y169S mutation in zebrafish disrupts cardiac actin polymerization, leading to defective cardiac contractility, altered blood flow, and absent endocardial cushion development.
Population
Zebrafish mutant (s434 mutation) and yeast actin models
Comparison
s434 mutation and phalloidin treatment vs Wild-type (implied)
Design
Preclinical
Authors
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Animal data on actc1a mutation warrant no practice change; leaves open ACTC mechanisms in human congenital heart disease.
The W-loop of alpha-cardiac actin is essential for actin polymerization, cardiac contractility, and endocardial cushion morphogenesis, providing insight into the mechanisms of ACTC mutations in congenital heart disease.
Glenn et al. (2012) studied Cardiac abnormalities (actc1a mutation). actc1a Y169S mutation (s434) / Phalloidin was evaluated on Cardiac actin polymerization, contractility, and endocardial cushion development. The actc1a Y169S mutation in zebrafish disrupts cardiac actin polymerization, leading to defective cardiac contractility, altered blood flow, and absent endocardial cushion development.
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