Article
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
European journal of medical genetics - 1 Jun 2019
Sakaguchi Asami, Yamashita Yukio, Ishii Tomohiro, Uehara Tomoko, Kosaki Kenjiro, Takahashi Takao, Takenouchi Toshiki
Abstract excerpt
Among the many regulators of microRNA formation, Argonaute 1 (AGO1) plays critical roles in RNA interference, which controls a wide range of biological activities. Recent large-scale genomic studies have identified at least five patients with intellectual disability/autism spectrum disorder who had de novo mutations in AGO1, but detailed clinical information was not available. The recognizable clinical features...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.