{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T08:06:45Z","timestamp":1790842005277,"version":"4.1.0"},"reference-count":39,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T00:00:00Z","timestamp":1664409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000156","name":"Fonds de Recherche du Qu\u00e9bec - Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000156","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Therapy - Nucleic Acids"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.omtn.2022.09.022","type":"journal-article","created":{"date-parts":[[2022,10,2]],"date-time":"2022-10-02T09:58:23Z","timestamp":1664704703000},"page":"272-285","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"special_numbering":"C","title":["Prime editing optimized RTT permits the correction of the c.8713C&gt;T mutation in DMD gene"],"prefix":"10.1016","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6908-4570","authenticated-orcid":false,"given":"Cedric","family":"Happi Mbakam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaoyao","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bigot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamel","family":"Mamchaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Mouly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-9195","authenticated-orcid":false,"given":"Jacques P.","family":"Tremblay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.omtn.2022.09.022_bib1","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/S1071-9091(98)80027-2","article-title":"The psychosocial and cognitive impact of Duchenne\u2019s muscular dystrophy","volume":"5","author":"Polakoff","year":"1998","journal-title":"Semin. Pediatr. Neurol."},{"key":"10.1016\/j.omtn.2022.09.022_bib2","doi-asserted-by":"crossref","first-page":"212","DOI":"10.3390\/children8030212","article-title":"An Integrative review Exploring Psycho-Social impacts and therapeutic Interventions for parent Caregivers of Young People living with Duchenne\u2019s muscular dystrophy","volume":"8","author":"Porteous","year":"2021","journal-title":"Children"},{"key":"10.1016\/j.omtn.2022.09.022_bib3","first-page":"5","article-title":"Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet","volume":"9","author":"Ciafaloni","year":"2016","journal-title":"J.\u00a0Pediatr. Rehabil. Med."},{"key":"10.1016\/j.omtn.2022.09.022_bib4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13023-017-0631-3","article-title":"The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review","volume":"12","author":"Ryder","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.omtn.2022.09.022_bib5","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-020-01430-8","article-title":"Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis","volume":"15","author":"Crisafulli","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.omtn.2022.09.022_bib6","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/sj.embor.7400221","article-title":"Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment","volume":"5","author":"Nowak","year":"2004","journal-title":"EMBO Rep."},{"key":"10.1016\/j.omtn.2022.09.022_bib7","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/j.2040-4603.2015.tb00638.x","article-title":"The Dystrophin Complex: structure, function and implications for therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr. Physiol."},{"key":"10.1016\/j.omtn.2022.09.022_bib8","doi-asserted-by":"crossref","first-page":"baw153","DOI":"10.1093\/database\/baw153","article-title":"GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics","volume":"2016","author":"Piovesan","year":"2016","journal-title":"Database"},{"key":"10.1016\/j.omtn.2022.09.022_bib9","doi-asserted-by":"crossref","DOI":"10.1007\/s13311-022-01197-9","article-title":"CRISPR-Cas9 gene therapy for Duchenne muscular dystrophy","author":"Happi Mbakam","year":"2022","journal-title":"Neurotherapeutics"},{"key":"10.1016\/j.omtn.2022.09.022_bib10","doi-asserted-by":"crossref","first-page":"859930","DOI":"10.3389\/fmed.2022.859930","article-title":"Therapeutic strategies for dystrophin replacement in Duchenne muscular dystrophy","volume":"9","author":"Happi Mbakam","year":"2022","journal-title":"Front. Med."},{"key":"10.1016\/j.omtn.2022.09.022_bib11","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.omtn.2022.09.022_bib12","article-title":"Efficient Restoration of the dystrophin gene reading Frame and protein structure in DMD myoblasts using the CinDel method","volume":"16","author":"Iyombe-Engembe","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2022.09.022_bib13","doi-asserted-by":"crossref","first-page":"2604","DOI":"10.1016\/j.ymthe.2018.08.010","article-title":"CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in\u00a0Vitro and in\u00a0vivo","volume":"26","author":"Duch\u00eane","year":"2018","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2022.09.022_bib14","doi-asserted-by":"crossref","first-page":"eabg4910","DOI":"10.1126\/sciadv.abg4910","article-title":"Precise correction of Duchenne muscular dystrophy exon deletion mutations by base and prime editing","volume":"7","author":"Chemello","year":"2021","journal-title":"Sci. Adv."},{"key":"10.1016\/j.omtn.2022.09.022_bib15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.omtn.2021.03.005","article-title":"Efficient correction of Duchenne muscular dystrophy mutations by SpCas9 and dual gRNAs","volume":"24","author":"Xiang","year":"2021","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.omtn.2022.09.022_bib16","doi-asserted-by":"crossref","first-page":"eaav4324","DOI":"10.1126\/sciadv.aav4324","article-title":"CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells","volume":"5","author":"Min","year":"2019","journal-title":"Sci. Adv."},{"key":"10.1016\/j.omtn.2022.09.022_bib17","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1016\/j.ymthe.2018.03.018","article-title":"Functional Rescue of dystrophin Deficiency in mice caused by Frameshift mutations using Campylobacter jejuni Cas9","volume":"26","author":"Koo","year":"2018","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2022.09.022_bib18","doi-asserted-by":"crossref","first-page":"3719","DOI":"10.1038\/s41467-021-23996-y","article-title":"Efficient precise in\u00a0vivo base editing in adult dystrophic mice","volume":"12","author":"Xu","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2022.09.022_bib19","doi-asserted-by":"crossref","first-page":"6160","DOI":"10.3390\/ijms23116160","article-title":"Prime editing permits the introduction of specific mutations in the gene Responsible for Duchenne muscular dystrophy","volume":"23","author":"Happi Mbakam","year":"2022","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.omtn.2022.09.022_bib20","doi-asserted-by":"crossref","first-page":"20150496","DOI":"10.1098\/rstb.2015.0496","article-title":"CRISPR-Cas: biology, mechanisms and relevance","volume":"371","author":"Hille","year":"2016","journal-title":"Phil. Trans. Biol. Sci."},{"key":"10.1016\/j.omtn.2022.09.022_bib21","doi-asserted-by":"crossref","first-page":"e0228072","DOI":"10.1371\/journal.pone.0228072","article-title":"Challenges associated with homologous directed repair using CRISPR-Cas9 and TALEN to edit the DMD genetic mutation in canine Duchenne muscular dystrophy","volume":"15","author":"L\u00f3pez","year":"2020","journal-title":"PLoS One"},{"key":"10.1016\/j.omtn.2022.09.022_bib22","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","article-title":"Search-and-replace genome editing without double-strand breaks or donor DNA","volume":"576","author":"Anzalone","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.omtn.2022.09.022_bib23","first-page":"1","article-title":"Engineered pegRNAs improve prime editing efficiency","author":"Nelson","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2022.09.022_bib24","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1016\/j.cell.2021.09.018","article-title":"Enhanced prime editing systems by manipulating cellular determinants of editing outcomes","volume":"184","author":"Chen","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.omtn.2022.09.022_bib25","first-page":"1","article-title":"Precise genomic deletions using paired prime editing","author":"Choi","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2022.09.022_bib26","first-page":"1","article-title":"Programmable deletion, replacement, integration and inversion of large DNA sequences with twin prime editing","author":"Anzalone","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2022.09.022_bib27","article-title":"Specific mutations in genes responsible for alzheimer and for duchenne muscular dystrophy introduced by base editing and PRIME editing","author":"Rousseau","year":"2020","journal-title":"bioRxiv"},{"key":"10.1016\/j.omtn.2022.09.022_bib28","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1038\/s41587-020-0537-9","article-title":"Prediction of the sequence-specific cleavage activity of Cas9\u00a0variants","volume":"38","author":"Kim","year":"2020","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.omtn.2022.09.022_bib29","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1126\/science.aba8853","article-title":"Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants","volume":"368","author":"Walton","year":"2020","journal-title":"Science"},{"key":"10.1016\/j.omtn.2022.09.022_bib30","doi-asserted-by":"crossref","first-page":"2001","DOI":"10.1016\/j.ymthe.2021.02.022","article-title":"Engineered prime editors with PAM flexibility","volume":"29","author":"Kweon","year":"2021","journal-title":"Mol. Ther."},{"key":"10.1016\/j.omtn.2022.09.022_bib31","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1038\/s41467-021-22295-w","article-title":"Improved prime editors enable pathogenic allele correction and cancer modelling in adult mice","volume":"12","author":"Liu","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2022.09.022_bib32","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1101\/gr.178335.114","article-title":"Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition","volume":"24","author":"Lujan","year":"2014","journal-title":"Genome Res."},{"key":"10.1016\/j.omtn.2022.09.022_bib33","doi-asserted-by":"crossref","first-page":"e1000189","DOI":"10.1371\/journal.pgen.1000189","article-title":"Human MLH1 protein Participates in genomic damage Checkpoint Signaling in Response to DNA Interstrand Crosslinks, while MSH2 Functions in DNA repair","volume":"4","author":"Wu","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.omtn.2022.09.022_bib34","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1038\/s41467-022-28442-1","article-title":"Prime editing efficiency and fidelity are enhanced in the absence of mismatch repair","volume":"13","author":"Ferreira da Silva","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.omtn.2022.09.022_bib35","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/978-1-4684-5865-7_19","article-title":"Localization of muscle gene products in nuclear domains: does this constitute a problem for myoblast therapy?","volume":"280","author":"Blau","year":"1990","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.omtn.2022.09.022_bib36","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/(SICI)1097-4598(199801)21:1<91::AID-MUS12>3.0.CO;2-3","article-title":"Transplantation of myoblasts from a transgenic mouse overexpressing dystrophin prduced only a relatively small increase of dystrophin-positive membrane","volume":"21","author":"Kinoshita","year":"1998","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.omtn.2022.09.022_bib37","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1113\/jphysiol.2003.045328","article-title":"Number and spatial distribution of nuclei in the muscle fibres of normal mice studied in\u00a0vivo","volume":"551","author":"Bruusgaard","year":"2003","journal-title":"J.\u00a0Physiol."},{"key":"10.1016\/j.omtn.2022.09.022_bib38","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1089\/crispr.2018.0014","article-title":"EditR: a method to quantify base editing from Sanger sequencing","volume":"1","author":"Kluesner","year":"2018","journal-title":"The CRISPR Journal"},{"key":"10.1016\/j.omtn.2022.09.022_bib39","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/s41587-019-0032-3","article-title":"CRISPResso2 provides accurate and rapid genome editing sequence analysis","volume":"37","author":"Clement","year":"2019","journal-title":"Nat. Biotechnol."}],"container-title":["Molecular Therapy - Nucleic Acids"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253122002657?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2162253122002657?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T01:36:04Z","timestamp":1761874564000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2162253122002657"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":39,"alternative-id":["S2162253122002657"],"URL":"https:\/\/doi.org\/10.1016\/j.omtn.2022.09.022","relation":{},"ISSN":["2162-2531"],"issn-type":[{"value":"2162-2531","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene","name":"articletitle","label":"Article Title"},{"value":"Molecular Therapy - Nucleic Acids","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.omtn.2022.09.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors.","name":"copyright","label":"Copyright"}]}}