Ontology highlight
ABSTRACT:
SUBMITTER: Angelbello AJ
PROVIDER: S-EPMC6475439 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20190329 16
Myotonic dystrophy type 1 (DM1) is an incurable neuromuscular disorder caused by an expanded CTG repeat that is transcribed into r(CUG)<sup>exp</sup> The RNA repeat expansion sequesters regulatory proteins such as Muscleblind-like protein 1 (MBNL1), which causes pre-mRNA splicing defects. The disease-causing r(CUG)<sup>exp</sup> has been targeted by antisense oligonucleotides, CRISPR-based approaches, and RNA-targeting small molecules. Herein, we describe a designer small molecule, Cugamycin, th ...[more]