AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes

Autor: Ophélie Vacca, Faouzi Zarrouki, Charlotte Izabelle, Mehdi Belmaati Cherkaoui, Alvaro Rendon, Deniz Dalkara, Cyrille Vaillend

Publikováno v: Cells, Vol 13, Iss 8, p 718 (2024)

A deficiency in the shortest dystrophin-gene product, Dp71, is a pivotal aggravating factor for intellectual disabilities in Duchenne muscular dystrophy (DMD). Recent advances in preclinical research have achieved some success in compensating both mu

Externí odkaz: https://doaj.org/article/eca27be8b77145bdab86d84d8f2672b5

Combined Treatment with Peptide-Conjugated Phosphorodiamidate Morpholino Oligomer-PPMO and AAV-U7 Rescues the Severe DMD Phenotype in Mice

Autor: Anne Forand, Antoine Muchir, Nathalie Mougenot, Caroline Sevoz-Couche, Cécile Peccate, Mégane Lemaitre, Charlotte Izabelle, Matthew Wood, Stéphanie Lorain, France Piétri-Rouxel

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 695-708 (2020)

Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by an absence of the dystrophin protein, which is essential for muscle fiber integrity. Among the developed therapeutic strategies for DMD, the exon-skipping approach cor

Externí odkaz: https://doaj.org/article/3c70520b46014bc4a96f7817e4afd124

Cerebellar synapse properties and cerebellum-dependent motor and non-motor performance in Dp71-null mice

Autor: Romain Helleringer, Delphine Le Verger, Xia Li, Charlotte Izabelle, Rémi Chaussenot, Mehdi Belmaati-Cherkaoui, Raoudha Dammak, Paulette Decottignies, Hervé Daniel, Micaela Galante, Cyrille Vaillend

Publikováno v: Disease Models & Mechanisms, Vol 11, Iss 7 (2018)

Recent emphasis has been placed on the role that cerebellar dysfunctions could have in the genesis of cognitive deficits in Duchenne muscular dystrophy (DMD). However, relevant genotype-phenotype analyses are missing to define whether cerebellar defe

Externí odkaz: https://doaj.org/article/0ae68f7ad47a409788dc2408fb3b6b65

Dp71 contribution to the molecular scaffold anchoring aquaporine‐4 channels in brain macroglial cells

Autor: Cyrille Vaillend, Jean-Vianney Barnier, Alvaro Rendon, Charlotte Izabelle, Mehdi Belmaati Cherkaoui, Claire Boulogne, Ophélie Vacca, Martine Cohen-Salmon, Cynthia Gillet, Anne-Cécile Boulay

Publikováno v: Glia
Glia, Wiley, 2021, 69 (4), pp.954-970. ⟨10.1002/glia.23941⟩
Glia, 2021, 69 (4), pp.954-970. ⟨10.1002/glia.23941⟩

International audience; Intellectual disability in Duchenne muscular dystrophy has been associated with the loss of dystrophin-protein 71, Dp71, the main dystrophin-gene product in the adult brain. Dp71 shows major expression in perivascular macrogli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9907e06042850d43fbfedaa22e0fef6
https://doi.org/10.1002/glia.23941

Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy

Autor: Cyrille Vaillend, Amel Saoudi, Catherine Sebrié, Aurélie Goyenvalle, Faouzi Zarrouki, Charlotte Izabelle

Publikováno v: Disease Models & Mechanisms
Disease Models & Mechanisms, 2021, 14 (9), pp.dmm049028. ⟨10.1242/dmm.049028⟩
Disease Models & Mechanisms, Cambridge Company of Biologists, 2021, 14 (9), pp.dmm049028. ⟨10.1242/dmm.049028⟩
Disease Models & Mechanisms, Vol 14, Iss 9 (2021)
article-version (VoR) Version of Record

The exon-52-deleted mdx52 mouse is a critical model of Duchenne muscular dystrophy (DMD), as it features a deletion in a hotspot region of the DMD gene, frequently mutated in patients. Deletion of exon 52 impedes expression of several brain dystrophi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d925b2f297a821e724b3b33ad4221e
https://hal.science/hal-03407894/document