{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:32:41Z","timestamp":1790418761608,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T00:00:00Z","timestamp":1595808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["369424301"],"award-info":[{"award-number":["369424301"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>Dmd<jats:sup>mdx<\/jats:sup>,<\/jats:italic> harbouring the c.2983C&gt;T nonsense mutation in <jats:italic>Dmd<\/jats:italic> exon 23, is a mouse model for Duchenne muscular dystrophy (DMD), frequently used to test therapies aimed at dystrophin restoration. Current translational research is methodologically hampered by the lack of a reporter mouse model, which would allow direct visualization of dystrophin expression as well as longitudinal <jats:italic>in vivo<\/jats:italic> studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We generated a <jats:italic>Dmd<jats:sup>EGFP\u2010mdx<\/jats:sup><\/jats:italic> reporter allele carrying in <jats:italic>cis<\/jats:italic> the <jats:italic>mdx\u2010<\/jats:italic>23 mutation and a C\u2010terminal EGFP\u2010tag. This mouse model allows direct visualization of spontaneously and therapeutically restored dystrophin\u2010EGFP fusion protein either after natural fibre reversion, or for example, after splice modulation using tricyclo\u2010DNA to skip <jats:italic>Dmd<\/jats:italic> exon 23, or after gene editing using AAV\u2010encoded CRISPR\/Cas9 for <jats:italic>Dmd<\/jats:italic> exon 23 excision.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Intravital microscopy in anaesthetized mice allowed live\u2010imaging of sarcolemmal dystrophin\u2010EGFP fusion protein of revertant fibres as well as following therapeutic restoration. Dystrophin\u2010EGFP\u2010fluorescence persisted <jats:italic>ex vivo<\/jats:italic>, allowing live\u2010imaging of revertant and therapeutically restored dystrophin in isolated fibres <jats:italic>ex vivo<\/jats:italic>. Expression of the shorter dystrophin\u2010EGFP isoforms Dp71 in the brain, Dp260 in the retina, and Dp116 in the peripheral nerve remained unabated by the <jats:italic>mdx\u2010<\/jats:italic>23 mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Intravital imaging of <jats:italic>Dmd<jats:sup>EGFP\u2010mdx<\/jats:sup><\/jats:italic> muscle permits novel experimental approaches such as the study of revertant and therapeutically restored dystrophin <jats:italic>in vivo<\/jats:italic> and <jats:italic>ex vivo<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nan.12639","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T16:37:21Z","timestamp":1592930241000},"page":"602-614","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Live\u2010imaging of revertant and therapeutically restored dystrophin in the <i>Dmd<sup>EGFP\u2010mdx<\/sup><\/i> mouse model for Duchenne muscular dystrophy"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8639-0764","authenticated-orcid":false,"given":"M. V.","family":"Petkova","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"},{"name":"Department of Neuropediatrics Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin Berlin Institute of Health (BIH) NeuroCure Clinical Research Center Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4903-6384","authenticated-orcid":false,"given":"A.","family":"Stantzou","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4231-3112","authenticated-orcid":false,"given":"A.","family":"Morin","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4444-3570","authenticated-orcid":false,"given":"O.","family":"Petrova","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Morales\u2010Gonzalez","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin Berlin Institute of Health (BIH) NeuroCure Clinical Research Center Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Seifert","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin Berlin Institute of Health (BIH) NeuroCure Clinical Research Center Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Bellec\u2010Dyevre","sequence":"additional","affiliation":[{"name":"Integrare (UMR_S951) Inserm G\u00e9n\u00e9thon Univ Evry Universit\u00e9 Paris\u2010Saclay Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7403-4447","authenticated-orcid":false,"given":"T.","family":"Manoliu","sequence":"additional","affiliation":[{"name":"Gustave Roussy Universit\u00e9 Paris\u2010Saclay Plate\u2010forme Imagerie et Cytom\u00e9trie. UMS AMMCa. Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3938-1165","authenticated-orcid":false,"given":"A.","family":"Goyenvalle","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"},{"name":"LIA BAHN Centre scientifique de Monaco Monaco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Garcia","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"},{"name":"LIA BAHN Centre scientifique de Monaco Monaco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6505-446X","authenticated-orcid":false,"given":"I.","family":"Richard","sequence":"additional","affiliation":[{"name":"Integrare (UMR_S951) Inserm G\u00e9n\u00e9thon Univ Evry Universit\u00e9 Paris\u2010Saclay Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2885-6073","authenticated-orcid":false,"given":"C.","family":"Laplace\u2010Builh\u00e9","sequence":"additional","affiliation":[{"name":"Gustave Roussy Universit\u00e9 Paris\u2010Saclay Plate\u2010forme Imagerie et Cytom\u00e9trie. UMS AMMCa. Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2824-3891","authenticated-orcid":false,"given":"M.","family":"Schuelke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Charit\u00e9\u2013Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin Humboldt\u2010Universit\u00e4t zu Berlin Berlin Institute of Health (BIH) NeuroCure Clinical Research Center Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1008-719X","authenticated-orcid":false,"given":"H.","family":"Amthor","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay UVSQ Inserm END\u2010ICAP Versailles France"},{"name":"Pediatric Department University Hospital Raymond Poincar\u00e9 Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,27]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0593-87"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0306-4522(98)00023-2"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2006.04.043"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.5.837"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1083"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1254445"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm897"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.148.5.985"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(97)00058-8"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3765"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-018-00687-z"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-016-0095-5"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.4.1189"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aad5143"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302594"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-0934(02)00138-6"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-1435-7_6"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes8100251"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbio.201900217"},{"key":"e_1_2_12_22_1","first-page":"120","article-title":"Russell and Burch\u2019s 3Rs then and now: the need for clarity in definition and purpose","volume":"54","author":"Tannenbaum J.","year":"2015","journal-title":"J Am Assoc Lab Anim Sci"}],"container-title":["Neuropathology and Applied Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnan.12639","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nan.12639","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nan.12639","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nan.12639","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T21:11:16Z","timestamp":1693861876000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nan.12639"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,27]]},"references-count":21,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1111\/nan.12639"],"URL":"https:\/\/doi.org\/10.1111\/nan.12639","archive":["Portico"],"relation":{},"ISSN":["0305-1846","1365-2990"],"issn-type":[{"value":"0305-1846","type":"print"},{"value":"1365-2990","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,27]]},"assertion":[{"value":"2019-12-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}