{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pini V"],"funding":["Medical Research Council","National Institute for Health Research (NIHR)","Muscular Dystrophy UK"],"pagination":["3756"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8904532"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_abstract":["Among the mutations arising in the DMD gene and causing Duchenne Muscular Dystrophy (DMD), 10-15% are multi-exon duplications. There are no current therapeutic approaches with the ability to excise large multi-exon duplications, leaving this patient cohort without mutation-specific treatment. Using CRISPR/Cas9 could provide a valid alternative to achieve targeted excision of genomic duplications of any size. Here we show that the expression of a single CRISPR/Cas9 nuclease targeting a genomic region within a DMD duplication can restore the production of wild-type dystrophin in vitro. We assessed the extent of dystrophin repair following both constitutive and transient nuclease expression by either transducing DMD patient-derived myoblasts with integrating lentiviral vectors or electroporat"],"journal":["Scientific reports"],"pubmed_title":["Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications."],"pmcid":["PMC8904532"],"funding_grant_id":["RA3/3076"],"pubmed_authors":["Farmer S","Conti F","Pini V","Dumonceaux J","O'Neill HC","Counsell J","Muntoni F","Mariot V"],"additional_accession":[]},"is_claimable":false,"name":"Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications.","description":"Among the mutations arising in the DMD gene and causing Duchenne Muscular Dystrophy (DMD), 10-15% are multi-exon duplications. There are no current therapeutic approaches with the ability to excise large multi-exon duplications, leaving this patient cohort without mutation-specific treatment. Using CRISPR/Cas9 could provide a valid alternative to achieve targeted excision of genomic duplications of any size. Here we show that the expression of a single CRISPR/Cas9 nuclease targeting a genomic region within a DMD duplication can restore the production of wild-type dystrophin in vitro. We assessed the extent of dystrophin repair following both constitutive and transient nuclease expression by either transducing DMD patient-derived myoblasts with integrating lentiviral vectors or electroporat","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2025-04-04T08:24:22.872Z","creation":"2025-04-04T08:24:22.872Z"},"accession":"S-EPMC8904532","cross_references":{"pubmed":["35260651"],"doi":["10.1038/s41598-022-07671-w"]}}