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Recent advances in preclinical research have achieved some success in compensating both muscle and brain dysfunctions associated with DMD, notably using exon skipping strategies. However, this has not been studied for distal mutations in the DMD gene leading to Dp71 loss. In this study, we aimed to restore brain Dp71 expression in the Dp71-null transgenic mouse using an adeno-associated virus (AAV) administrated either by intracardiac injections at P4 (ICP4) or by bilateral intracerebroventricular (ICV) injections in adults. ICP4 delivery of the AAV9-Dp71 vector enabled the expression of 2 to 14% of brain Dp71, while ICV delivery enabled the overexpression of Dp71 in the hippocampus and cortex of adult mice, with anecdotal expression in the cerebellum. The restoration of Dp71 was mostly located in the glial endfeet that surround capillaries, and it was associated with partial localization of Dp71-associated proteins, \u03b11-syntrophin and AQP4 water channels, suggesting proper restoration of a scaffold of proteins involved in blood\u2013brain barrier function and water homeostasis. However, this did not result in significant improvements in behavioral disturbances displayed by Dp71-null mice. The potential and limitations of this AAV-mediated strategy are discussed. This proof-of-concept study identifies key molecular markers to estimate the efficiencies of Dp71 rescue strategies and opens new avenues for enhancing gene therapy targeting cognitive disorders associated with a subgroup of severely affected DMD patients.<\/jats:p>","DOI":"10.3390\/cells13080718","type":"journal-article","created":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T09:53:52Z","timestamp":1713779632000},"page":"718","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9281-843X","authenticated-orcid":false,"given":"Oph\u00e9lie","family":"Vacca","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faouzi","family":"Zarrouki","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5723-3129","authenticated-orcid":false,"given":"Charlotte","family":"Izabelle","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehdi","family":"Belmaati Cherkaoui","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alvaro","family":"Rendon","sequence":"additional","affiliation":[{"name":"Department of Therapeutics, Sorbonne University, Institut de la Vision, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Dalkara","sequence":"additional","affiliation":[{"name":"Department of Therapeutics, Sorbonne University, Institut de la Vision, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8783-8185","authenticated-orcid":false,"given":"Cyrille","family":"Vaillend","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, 91400 Saclay, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations","volume":"58","author":"Ricotti","year":"2016","journal-title":"Dev. 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