Article
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.
The Journal of biological chemistry - 5 Aug 2011
Song Weihua, Dyer Emma, Stuckey Daniel J, Copeland O'Neal, Leung Man-Ching, Bayliss Christopher, Messer Andrew, Wilkinson Ross, Tremoleda Jordi Lopez, Schneider Michael D, Harding Sian E, Redwood Charles S, Clarke Kieran, Nowak Kristen, Monserrat Lorenzo, Wells Dominic, Marston Steven B
Abstract excerpt
We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTC E99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation. The actin mutation caused a higher Ca(2+) sensitivity in reconstituted thin filaments measured by in vitro motility assay (2.3-fold for mice and 1.3-fold for humans) and in skinned papillary muscle. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.