[HTML][HTML] MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
W Dansithong, S Paul, L Comai, S Reddy - Journal of Biological Chemistry, 2005 - ASBMB
In myotonic dystrophy 1 (DM1), aggregation of the mutant DMPK RNA into RNA-protein
complexes containing MBNL1 and MBNL2 has been linked to aberrant splicing of the insulin
receptor (IR) RNA. In a parallel line of investigation, elevated levels of CUG-binding protein
(CUG-BP) have been shown to result in altered IR splicing in DM1. The relative importance
of MBNL1, MBNL2, and CUG-BP in DM1 pathogenesis is, however, unclear. Here we have
demonstrated that either small interfering RNA-mediated down-regulation of MBNL1 and …
complexes containing MBNL1 and MBNL2 has been linked to aberrant splicing of the insulin
receptor (IR) RNA. In a parallel line of investigation, elevated levels of CUG-binding protein
(CUG-BP) have been shown to result in altered IR splicing in DM1. The relative importance
of MBNL1, MBNL2, and CUG-BP in DM1 pathogenesis is, however, unclear. Here we have
demonstrated that either small interfering RNA-mediated down-regulation of MBNL1 and …