{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:19:43Z","timestamp":1787239183507,"version":"build-2736575974"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T00:00:00Z","timestamp":1766016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1016\/j.nmd.2025.106306","type":"journal-article","created":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T02:33:55Z","timestamp":1765593235000},"page":"106306","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies"],"prefix":"10.1016","volume":"59","author":[{"given":"Rachele","family":"Rossi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke","family":"Aartsma-Rus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Goyenvalle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2783-688X","authenticated-orcid":false,"given":"Pietro","family":"Spitali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0001","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat Rev Dis Primers"},{"issue":"6074","key":"10.1016\/j.nmd.2025.106306_bib0002","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/322073a0","article-title":"Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy","volume":"322","author":"Kunkel","year":"1986","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.nmd.2025.106306_bib0003","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1080\/15476286.2015.1125074","article-title":"Aartsma-Rus A. Non-sequential and multi-step splicing of the dystrophin transcript","volume":"13","author":"Gazzoli","year":"2016","journal-title":"RNA Biol"},{"issue":"15","key":"10.1016\/j.nmd.2025.106306_bib0004","doi-asserted-by":"crossref","first-page":"3059","DOI":"10.1093\/nar\/24.15.3059","volume":"24","author":"Tennyson","year":"1996","journal-title":"Nucleic Acids Res"},{"issue":"12","key":"10.1016\/j.nmd.2025.106306_bib0005","doi-asserted-by":"crossref","first-page":"4909","DOI":"10.1096\/fj.13-232025","article-title":"DMD transcript imbalance determines dystrophin levels","volume":"27","author":"Spitali","year":"2013","journal-title":"FASEB J"},{"issue":"9","key":"10.1016\/j.nmd.2025.106306_bib0006","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0239467","article-title":"Multiplex in situ hybridization within a single transcript: rNAscope reveals dystrophin mRNA dynamics","volume":"15","author":"Hildyard","year":"2020","journal-title":"PLoS One"},{"issue":"7","key":"10.1016\/j.nmd.2025.106306_bib0007","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.3390\/biomedicines11072082","article-title":"When size really matters: the eccentricities of dystrophin transcription and the hazards of quantifying mRNA from very long genes","volume":"11","author":"Hildyard","year":"2023","journal-title":"Biomedicines"},{"key":"10.1016\/j.nmd.2025.106306_bib0008","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1016\/j.omtn.2022.11.017","article-title":"Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice","volume":"30","author":"Bizot","year":"2022","journal-title":"Mol Ther Nucleic Acids"},{"issue":"28","key":"10.1016\/j.nmd.2025.106306_bib0009","doi-asserted-by":"crossref","first-page":"16456","DOI":"10.1073\/pnas.1910456117","article-title":"Premature termination codons in the DMD gene cause reduced local mRNA synthesis","volume":"117","author":"Garc\u00eda-Rodr\u00edguez","year":"2020","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"10.1016\/j.nmd.2025.106306_bib0010","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1002\/humu.22017","article-title":"Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array","volume":"33","author":"Bovolenta","year":"2012","journal-title":"Hum Mutat"},{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0011","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0012","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13395-024-00360-4","article-title":"Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells","volume":"14","author":"Rossi","year":"2024","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2025.106306_bib0013","doi-asserted-by":"crossref","unstructured":"Hildyard J.C.W., Roskrow L.E., Wells D.J., Piercy R.J. Spatiotemporal analysis of dystrophin expression during muscle repair. BioRxiv 2024.12.06.627177; doi: 10.1101\/2024.12.06.627177.","DOI":"10.1101\/2024.12.06.627177"},{"issue":"2","key":"10.1016\/j.nmd.2025.106306_bib0014","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/embor.2010.208","article-title":"miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy","volume":"12","author":"Cacchiarelli","year":"2011","journal-title":"EMBO"},{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0015","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s00018-024-05188-1","article-title":"The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation","volume":"81","author":"Da Cunha","year":"2024","journal-title":"Cell Mol Life Sci"},{"issue":"2","key":"10.1016\/j.nmd.2025.106306_bib0016","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1006\/bbrc.1997.7328","article-title":"Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy","volume":"238","author":"Araki","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"issue":"4912","key":"10.1016\/j.nmd.2025.106306_bib0017","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1126\/science.2662404","article-title":"The molecular basis of muscular dystrophy in the mdx mouse: a point mutation","volume":"244","author":"Sicinski","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.nmd.2025.106306_bib0018","series-title":"FR: 8th International Congress Myology","article-title":"Evaluation of HDAC inhibitors to increase dystrophin rescue in DMD following exon skipping therapy","author":"Phongsavanh","year":"2024"},{"issue":"4","key":"10.1016\/j.nmd.2025.106306_bib0019","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/humu.24343","article-title":"Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy","volume":"43","author":"Waldrop","year":"2022","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.nmd.2025.106306_bib0020","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.celrep.2014.01.025","article-title":"Long open reading frame transcripts escape nonsense-mediated mRNA decay in yeast","volume":"6","author":"Decourty","year":"2014","journal-title":"Cell Rep"},{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0021","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-023-43134-6","article-title":"mRNA in situ hybridization exhibits unbalanced nuclear\/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies","volume":"13","author":"Falzarano","year":"2023","journal-title":"Sci Rep"},{"issue":"1","key":"10.1016\/j.nmd.2025.106306_bib0022","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1089\/nat.2014.1500","article-title":"Antisense-mediated exon skipping: networking to meet opportunities and to overcome challenges","volume":"24","author":"Aartsma-Rus","year":"2014","journal-title":"Nucleic Acid Ther"},{"issue":"2","key":"10.1016\/j.nmd.2025.106306_bib0023","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1089\/nat.2020.0845","article-title":"The 10th oligonucleotide therapy approved: golodirsen for Duchenne muscular dystrophy","volume":"30","author":"Aartsma-Rus","year":"2020","journal-title":"Nucleic Acid Ther"},{"issue":"3","key":"10.1016\/j.nmd.2025.106306_bib0024","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1007\/s12035-019-01845-w","article-title":"Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy","volume":"57","author":"Naidoo","year":"2020","journal-title":"Mol Neurobiol"},{"issue":"2","key":"10.1016\/j.nmd.2025.106306_bib0025","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1002\/jcsm.12914","article-title":"Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy","volume":"13","author":"Chesshyre","year":"2022","journal-title":"J Cachexia Sarcopenia Muscle"},{"issue":"6","key":"10.1016\/j.nmd.2025.106306_bib0026","doi-asserted-by":"crossref","first-page":"1546","DOI":"10.3390\/ijms19061546","article-title":"Detection of dystrophin Dp71 in Human skeletal muscle using an automated capillary western assay system","volume":"19","author":"Kawaguchi","year":"2018","journal-title":"Int J Mol Sci"},{"issue":"2","key":"10.1016\/j.nmd.2025.106306_bib0027","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.cels.2019.12.003","article-title":"The key parameters that govern translation efficiency","volume":"10","author":"Erdmann-Pham","year":"2020","journal-title":"Cell Syst"},{"issue":"7","key":"10.1016\/j.nmd.2025.106306_bib0028","article-title":"Targeted RNA-seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle","volume":"28","author":"Boug\u00e9","year":"2017","journal-title":"Sci Rep"},{"issue":"12","key":"10.1016\/j.nmd.2025.106306_bib0029","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1016\/j.cell.2022.04.031","article-title":"Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy","volume":"185","author":"Marasco","year":"2020","journal-title":"Cell"},{"issue":"6","key":"10.1016\/j.nmd.2025.106306_bib0030","doi-asserted-by":"crossref","first-page":"2583","DOI":"10.3390\/ijms26062583","article-title":"Valproic acid improves antisense-mediated exon-skipping efficacy in mdx mice","volume":"26","author":"Phongsavanh","year":"2025","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.nmd.2025.106306_bib0031","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.omtm.2020.04.025","article-title":"Long-term efficacy of AAV9-U7snRNA-mediated exon 51 skipping in mdx52 mice","volume":"17","author":"Aupy","year":"2020","journal-title":"Mol Ther Methods Clin Dev"},{"key":"10.1016\/j.nmd.2025.106306_bib0032","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.omtn.2023.03.009","article-title":"Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits in mdx52 mice","volume":"32","author":"Saoudi","year":"2023","journal-title":"Mol Ther Nucleic Acids"},{"issue":"12","key":"10.1016\/j.nmd.2025.106306_bib0033","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.3390\/biomedicines11123243","article-title":"Networking to optimize dmd exon 53 skipping in the brain of mdx52 mouse model","volume":"11","author":"Doisy","year":"2023","journal-title":"Biomedicines"},{"issue":"6","key":"10.1016\/j.nmd.2025.106306_bib0034","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.febslet.2013.01.057","article-title":"Nested introns in an intron: evidence of multi-step splicing in a large intron of the human dystrophin pre-mRNA","volume":"587","author":"Suzuki","year":"2013","journal-title":"FEBS Lett"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896625010338?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896625010338?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:33:39Z","timestamp":1769834019000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896625010338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":34,"alternative-id":["S0960896625010338"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2025.106306","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2025.106306","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"106306"}}