{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T05:20:26Z","timestamp":1787721626844,"version":"build-2784847793"},"reference-count":19,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:00:00Z","timestamp":1756080000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Nucleic Acid Therapeutics"],"published-print":{"date-parts":[[2025,10,1]]},"abstract":"<jats:p>\n                    Mini\/midigene splicing assays are often used to evaluate splicing modulation therapy, for example, employing antisense oligonucleotides (AONs). Twenty-five AONs targeting the splicing defect caused by a recurrent variant in\n                    <jats:italic toggle=\"yes\">ABCA4<\/jats:italic>\n                    (c.768G&gt;T) were tested using a midigene containing a part of intron 5, exon 6, and a part of intron 6 of the\n                    <jats:italic toggle=\"yes\">ABCA4<\/jats:italic>\n                    gene. Surprisingly, almost all AONs showed high efficacy, complicating candidate selection. We hypothesized that the lack of genomic context may lead to a very accessible transcript for AONs. Indeed, the use of an\n                    <jats:italic toggle=\"yes\">ABCA4<\/jats:italic>\n                    maxigene that contains a part of intron 5, exon 6, parts of intron 6, and the genomic region between exons 7 and 11 allowed a clear distinction between efficacious and less efficacious AONs, corroborating the results we recently observed in patient-derived retinal cells. These underscore the necessity of a proper genetic context included in constructs used in splicing assays to assess the potential of splicing modulation therapy.\n                  <\/jats:p>","DOI":"10.1177\/21593337251371582","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T17:15:51Z","timestamp":1759943751000},"page":"241-245","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Context Matters: The Importance of a Comprehensive Genomic Region When Assessing the Therapeutic Potential of Antisense Oligonucleotides in Splicing Assays"],"prefix":"10.1177","volume":"35","author":[{"given":"Dyah W.","family":"Karjosukarso","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia F.","family":"Kiefmann","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Femke","family":"Bukkems","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lonneke","family":"Duijkers","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob W.J.","family":"Collin","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029538"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymeth.2005.07.015"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00503"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24021562"},{"key":"e_1_3_5_6_2","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1167\/tvst.11.6.25","article-title":"Noncanonical splice site and deep intronic FRMD7 variants activate cryptic exons in X-linked infantile nystagmus","volume":"11","author":"Lee J","year":"2022","unstructured":"Lee J, , Jeong H, , Won D, et al. 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In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Hum Mol Genet, 2016; 25:2552\u20132563; doi: 10.1093\/hmg\/ddw118","journal-title":"Hum Mol Genet"},{"key":"e_1_3_5_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22094621"},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-0716-2010-6_9"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtn.2023.02.020"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-041217-010829"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.226621.117"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s43856-024-00712-7"},{"key":"e_1_3_5_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2008.205"}],"container-title":["Nucleic Acid Therapeutics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/21593337251371582","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/21593337251371582","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/21593337251371582","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T04:40:42Z","timestamp":1787719242000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/21593337251371582"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,25]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10,1]]}},"alternative-id":["10.1177\/21593337251371582"],"URL":"https:\/\/doi.org\/10.1177\/21593337251371582","relation":{},"ISSN":["2159-3337","2159-3345"],"issn-type":[{"value":"2159-3337","type":"print"},{"value":"2159-3345","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,25]]}}}