Ontology highlight
ABSTRACT:
SUBMITTER: Lee JE
PROVIDER: S-EPMC3306674 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Lee Johanna E JE Bennett C Frank CF Cooper Thomas A TA
Proceedings of the National Academy of Sciences of the United States of America 20120227 11
Myotonic dystrophy type 1 (DM1) is an RNA-dominant disease caused by abnormal transcripts containing expanded CUG repeats. The CUG transcripts aggregate in the nucleus to form RNA foci and lead to nuclear depletion of Muscleblind-like 1 (MBNL1) and stabilized expression of CUGBP Elav like family 1 (CELF1), both of which are splicing regulatory proteins. The imbalance of these proteins results in misregulation of alternative splicing and neuromuscular abnormalities. Here, we report the use of ant ...[more]