Jae Eun Kwak

CTG repeat expansion disrupts RNA splicing and WNT/BMP–HOX transcriptional programs in patient-derived models of myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by CTG repeat expansion in the DMPK gene, resulting in the formation of nuclear CUG RNA foci, sequestration of MBNL1, and widespread defects in RNA processing. Here, we investigated the molecular consequences of C...