Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1
Mariapaola Izzo , Jonathan Battistini , Elisabetta Golini , Christine Voellenkle , Claudia Provenzano , Tiziana Orsini , Georgios Strimpakos , Ferdinando Scavizzi , Marcello Raspa , Denisa Baci , Svetlana Frolova , Spyros Tastsoglou , Germana Zaccagnini , Jose Manuel Garcia-Manteiga , Genevieve Gourdon , Silvia Mandillo , Beatrice Cardinali , Fabio Martelli , Germana Falcone
Clinical and Translational Medicine ›› 2025, Vol. 15 ›› Issue (2) : e70227
Muscle-specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1
•In vivo application of a therapeutic gene editing strategy for permanent deletion of the pathogenetic CTG-repeat amplification in the DMPK gene that causes myotonic dystrophy type 1. | |
•Following treatment, diseased mice show a significant improvement of both molecular and phenotypic defects. |
CRISPR/Cas9 / CTG repeats / DM1 / DMPK / DMSXL mouse model / gene editing / muscle / MyoAAV / myotonic dystrophy type 1
2025 The Author(s). Clinical and Translational Medicine published by John Wiley & Sons Australia, Ltd on behalf of Shanghai Institute of Clinical Bioinformatics.
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