MBNL1

MBNL1, or Muscleblind-like splicing regulator 1, is a key RNA-binding protein with aliases including MBLL. It mediates alternative splicing by recognizing CUG/CCUG repeat motifs in pre-mRNAs, regulating transcript processing critical for muscle and neuronal development.
Dysregulation of MBNL1 drives myotonic dystrophy type 1 (DM1): expanded CUG repeats in DMPK sequester MBNL1, causing aberrant splicing. Current drug development focuses on antisense oligonucleotides to free MBNL1 from toxic repeats and small molecules enhancing its activity, with promising preclinical results for DM1 treatment.