Article
RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.
Neuron - 13 Sept 2017
Zu Tao, Cleary John D, Liu Yuanjing, Bañez-Coronel Monica, Bubenik Jodi L, Ayhan Fatma, Ashizawa Tetsuo, Xia Guangbin, Clark H Brent, Yachnis Anthony T, Swanson Maurice S, Ranum Laura P W
Abstract excerpt
Several microsatellite-expansion diseases are characterized by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.