Author

W. van den Broek

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Open access Aug 2026

CRISPR/dCas9-mediated tuning of DMPK transcription reveals a quantitative relationship between toxic repeat RNA expression and MBNL1 activity in myotonic dystrophy.

It is demonstrated that expanded DMPK transcript levels modulate free MBNL1 concentration and alternative splicing in a dose-dependent manner, underscoring the central role of repeat RNA expression in DM1 pathogenesis.

Lise Ripken, Thomas D. Hoekman, M. Willemse et al. · Human Molecular Genetics · 0 citations