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- W2566702924 abstract "Myotonic dystrophy type 1 (DM1) belongs to the group of nucleotide repeat disorders. More specifically this autosomal form of muscular dystrophy is caused by the expansion of the CTG trinucleotide repeat located at the 3’ untranslated region (3’-UTR) of the DMPK gene. Elongated CUG repeats of the mutated DMPK mRNAs become sequestration sites for splicing factors, and induce the formation of stable ribonucleoprotein complexes visualized as foci. As a consequence, the alternative splicing of numerous transcripts is dysregulated, which leads to the DM1 pathological alterations affecting various tissues. We have developed a strategy to delete the CTG repeat expansion in the human DMPK locus by using the CRISPR/Cas9 system. For that purpose, we constructed different expression platforms for small size Cas9 nucleases under either a ubiquitous or a muscle-specific promoter and guide RNAs (sgRNAs) targeting the 3’-UTR of the DMPK gene. Co-transfection of these constructs in DM1 primary myoblasts resulted in the deletion of the CTG repeat. We are currently optimizing the delivery of these Cas9 and sgRNAs constructs in cells by their vectorization in lentiviral and adeno-associated vectors and will present data on in vitro (DM1 patient-derived cell lines) and in vivo (wild-type mice) assays." @default.
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- W2566702924 date "2016-05-01" @default.
- W2566702924 modified "2023-09-30" @default.
- W2566702924 title "322. Genome Editing for Nucleotide Repeat Disorders: Towards a New Therapeutic Approach for Myotonic Dystrophy Type 1" @default.
- W2566702924 doi "https://doi.org/10.1016/s1525-0016(16)33131-8" @default.
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