Article
De novo TBR1 mutations in sporadic autism disrupt protein functions.
Nature communications - 18 Sept 2014
Deriziotis Pelagia, O'Roak Brian J, Graham Sarah A, Estruch Sara B, Dimitropoulou Danai, Bernier Raphael A, Gerdts Jennifer, Shendure Jay, Eichler Evan E, Fisher Simon E
Abstract excerpt
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.