Ontology highlight
ABSTRACT:
SUBMITTER: Kim YK
PROVIDER: S-EPMC5033491 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Kim Yun K YK Yadava Ramesh S RS Mandal Mahua M Mahadevan Karunasai K Yu Qing Q Leitges Michael M Mahadevan Mani S MS
PloS one 20160922 9
Myotonic dystrophy type 1(DM1) is the prototype for diseases caused by RNA toxicity. RNAs from the mutant allele contain an expanded (CUG)n tract within the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. The toxic RNAs affect the function of RNA binding proteins leading to sequestration of muscleblind-like (MBNL) proteins and increased levels of CELF1 (CUGBP, Elav-like family member 1). The mechanism for increased CELF1 is not very clear. One favored proposition i ...[more]