{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T07:38:23Z","timestamp":1790667503772,"version":"4.1.0"},"reference-count":38,"publisher":"EDP Sciences","issue":"6-7","license":[{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:p>Les avanc\u00e9es en recherches g\u00e9n\u00e9tique et g\u00e9nomique ne cessent d\u2019accro\u00eetre nos connaissances des maladies h\u00e9r\u00e9ditaires. Un nombre croissant de ces maladies rel\u00e8ve d\u2019\u00e9pissages aberrants qui repr\u00e9sentent des cibles id\u00e9ales pour les approches correctives centr\u00e9es sur l\u2019ARN. De nouvelles strat\u00e9gies, en particulier m\u00e9dicamenteuses, visant \u00e0 exclure ou \u00e0 r\u00e9-inclure des exons lors du processus d\u2019\u00e9pissage, ont ainsi \u00e9merg\u00e9 et plusieurs mol\u00e9cules ont r\u00e9cemment obtenu des autorisations de mise sur le march\u00e9, notamment pour le traitement de la dystrophie musculaire de Duchenne et de l\u2019amyotrophie spinale, suscitant de plus en plus d\u2019int\u00e9r\u00eat et d\u2019espoir. Parmi ces mol\u00e9cules, les oligonucl\u00e9otides antisens, ou ASO, ont connu un r\u00e9el essor et font l\u2019objet de progr\u00e8s constants en mati\u00e8re de modifications chimiques et de conception. Toutefois, leur biodistribution apr\u00e8s administration par voie g\u00e9n\u00e9rale demeure souvent limit\u00e9e, et le d\u00e9veloppement de chimies alternatives plus performantes et de nouveaux syst\u00e8mes d\u2019adressage est devenu un axe de recherche tr\u00e8s actif. En parall\u00e8le, l\u2019utilisation de petites mol\u00e9cules pr\u00e9sentant une excellente biodistribution, ou de vecteurs viraux pour v\u00e9hiculer les s\u00e9quences antisens, est \u00e9galement explor\u00e9e. Dans cette Synth\u00e8se, nous pr\u00e9sentons les derni\u00e8res avanc\u00e9es de ces approches de modulation d\u2019\u00e9pissage \u00e0 travers deux exemples de maladies neuromusculaires. Nous discutons de leurs avantages et des principales limitations actuelles.<\/jats:p>","DOI":"10.1051\/medsci\/2021091","type":"journal-article","created":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T08:10:47Z","timestamp":1624867847000},"page":"625-631","source":"Crossref","is-referenced-by-count":4,"title":["Les approches th\u00e9rapeutiques de modulation de l\u2019\u00e9pissage"],"prefix":"10.1051","volume":"37","author":[{"given":"Amel","family":"Saoudi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3938-1165","authenticated-orcid":false,"given":"Aur\u00e9lie","family":"Goyenvalle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2021,6,28]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1073\/pnas.75.1.280","volume":"75","author":"Zamecnik","year":"1978","journal-title":"Proc Natl Acad Sci USA"},{"key":"R2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0165-022X(86)90021-7","volume":"13","author":"Wickstrom","year":"1986","journal-title":"J Biochem Biophys Methods"},{"key":"R3","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1093\/nar\/gky1260","volume":"47","author":"Gaus","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"R4","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/nbt.3779","volume":"35","author":"Crooke","year":"2017","journal-title":"Nat Biotechnol"},{"key":"R5","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1089\/nat.2016.0650","volume":"27","author":"Crooke","year":"2017","journal-title":"Nucleic Acid Ther"},{"key":"R6","doi-asserted-by":"crossref","first-page":"157","DOI":"10.3233\/JND-160146","volume":"3","author":"Goyenvalle","year":"2016","journal-title":"J Neuromuscul Dis"},{"key":"R7","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1089\/oli.1.1997.7.187","volume":"7","author":"Summerton","year":"1997","journal-title":"Antisense Nucleic Acid Drug Dev"},{"key":"R8","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.drudis.2017.09.018","volume":"23","author":"Hagedorn","year":"2018","journal-title":"Drug Discov Today"},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Seth PP, Siwkowski A, Allerson CR, et al. 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