Article

Co-opting MBNL-dependent alternative splicing cassette exons to control gene therapy in myotonic dystrophy

2025-01-24

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a multisystemic genetic disorder caused by a CTG repeat expansion that accumulate as toxic CUG repeat RNA. Functional sequestration of muscleblind-like (MBNL) proteins by CUG repeat RNA leads to deleterious, yet predictable changes in alternative splicing in DM. Genetic medicines for DM that reduce CUG repeat RNA or increase MBNL are advancing, but application of a viral-based ap...

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Literature Corpus work: 64046b4a-8be4-583f-beef-cb731bb03f5b
DOI: 10.1101/2025.01.23.634565

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