Výsledky vyhledávání - "Aurélie Avril"

Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers

Autor: Luis Garcia, Kariem Ezzat, Claudia Bühr, Kay E. Davies, Thomas Voit, Christian J. Leumann, Arnaud Ferry, Samir El Andaloussi, Helge Amthor, Stefan Schürch, Aurélie Avril, Graziella Griffith, Aurélie Goyenvalle, Rémi Chaussenot, Arran Babbs, Cyrille Vaillend, Matthew J.A. Wood, Branislav Dugovic

Publikováno v: Nature Medicine
Nature Medicine, Nature Publishing Group, 2015, 21 (3), pp.270-275. ⟨10.1038/nm.3765⟩

International audience; Antisense oligonucleotides (AONs) hold promise for therapeutic correction of many genetic diseases via exon skipping, and the first AON-based drugs have entered clinical trials for neuromuscular disorders. However, despite adv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62203964de5cd28ed64a64e68a67102f
https://doi.org/10.1038/nm.3765

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Un nouvel outil pour le traitement de la myopathie de Duchenne : les tricyclo-ADN

Autor: Aurélie Goyenvalle, Aurélie Avril, Luis Garcia, Helge Amthor, Graziella Griffith

Publikováno v: médecine/sciences
médecine/sciences, 2015, 31 (3), pp.253-256. ⟨10.1051/medsci/20153103009⟩
médecine/sciences, EDP Sciences, 2015, 31 (3), pp.253-256. ⟨10.1051/medsci/20153103009⟩

253 m/s n° 3, vol. 31, mars 2015 DOI : 10.1051/medsci/20153103009 6. Marthiens V, Rujano MA, Pennetier C, et al. Centrosome amplification causes microcephaly. Nat Cell Biol 2013 ; 15 : 731-40. 7. Lingle WL, Barrett SL, Negron VC, et al. Centrosome a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac7f5e46f13409f787bd1237fa9e7af
https://hal.science/hal-02407963

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In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs

Autor: Aurélie Avril, M. Goicoechea, Juan Valcárcel, Cyriaque Beley, Ana Aiastui, Lorea Blazquez, Puri Fortes, Luis Garcia, Mafalda Martins de Araujo, Adolfo López de Munain

Publikováno v: Human mutation. 34(10)

Limb-girdle muscular dystrophy type 2A (LGMD2A) is the most frequent autosomal recessive muscular dystrophy. It is caused by mutations in the calpain-3 (CAPN3) gene. The majority of the mutations described to date are located in the coding sequence o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e6a026d0138e6aa7e52d7a6f69ae8e
https://pubmed.ncbi.nlm.nih.gov/23864287

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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

Autor: Cyriaque Beley, Vincent Mouly, Soraya Chaouch, Anthony Behin, Gillian Butler-Browne, Nicolas Wein, Martin Krahn, Pascal Laforêt, Aurélie Avril, Marc Bartoli, Luis Garcia, Nicolas Lévy

Publikováno v: Human Mutation
Human Mutation, Wiley, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩
Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩

International audience; Mutations in DYSF encoding dysferlin cause primary dysferlinopathies, autosomal recessive diseases that mainly present clinically as Limb Girdle Muscular Dystrophy type 213 and Miyoshi myopathy. More than 350 different sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee62e8548dca7737d2b3f3ae8dd2a19
https://hal.archives-ouvertes.fr/hal-01610031

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Aquaporin-3 expression in human fetal airway epithelial progenitor cells

Autor: Aurélie Avril-Delplanque, Ibrahim Casal, Edith Puchelle, Bruno Péault, Jocelyne Hinnrasky, Nicolas Castillon

Publikováno v: Stem cells (Dayton, Ohio)
Stem cells (Dayton, Ohio), 2005, 23 (7), pp.992-1001. ⟨10.1634/stemcells.2004-0197⟩

Airway epithelium stem cells have not yet been prospectively identified, but it is generally assumed that both secretory and basal cells have the capacity to divide and differentiate. Previously, we developed a test for progenitor cells of the human

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a47165ccb18392dc6b135859b8caae3d
https://www.hal.inserm.fr/inserm-00145182

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Regeneration of a well-differentiated human airway surface epithelium by spheroid and lentivirus vector-transduced airway cells

Autor: Nicolas Castillon, Christelle Coraux, Olivier Danos, Christophe Delenda, Edith Puchelle, Aurélie Avril-Delplanque, Bruno Péault

Publikováno v: The Journal of Gene Medicine
The Journal of Gene Medicine, 2004, 6 (8), pp.846-56. ⟨10.1002/jgm.570⟩
The Journal of Gene Medicine, Wiley, 2004, 6 (8), pp.846-56. ⟨10.1002/jgm.570⟩

BACKGROUND: Following injury to the airway epithelium, rapid regeneration of a functional epithelium is necessary in order to restore the epithelial barrier integrity. In the perspective of airway gene/cell therapy, we analyzed the capacity of human

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726e66d9e4d82574e0010d76ed7d4f99
https://pubmed.ncbi.nlm.nih.gov/15293343

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Polarized expression of cystic fibrosis transmembrane conductance regulator and associated epithelial proteins during the regeneration of human airway surface epithelium in three-dimensional culture

Autor: Pascal Corlieu, Nicolas Castillon, Jean-Marie Zahm, Hervé Kaplan, Aurélie Avril-Delplanque, Bruno Péault, Jean-Michel Klossek, Jocelyne Hinnrasky, Edith Puchelle, Karima Taouil, Noël Bonnet

Publikováno v: Laboratory Investigation
Laboratory Investigation, 2002, 82 (8), pp.989-98
Laboratory Investigation, Nature Publishing Group, 2002, 82 (8), pp.989-98

We have previously shown that, in normal human airway tissue, localization of the cystic fibrosis transmembrane conductance regulator (CFTR) can be affected by epithelial maturation, polarity, and differentiation and that CFTR trafficking and apical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e9fb8bd1c62fe30293fdb02dfef647
https://www.hal.inserm.fr/inserm-00149648

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T.O.3 Tricyclo-DNA: A promising chemistry for the synthesis of antisense molecules for splice-switching approaches in DMD

Autor: Aurélie Goyenvalle, Arran Babbs, G. Griffiths, Christian J. Leumann, Kay E. Davies, Aurélie Avril, Branislav Dugovic, Luis Garcia

Publikováno v: Neuromuscular Disorders. 22:907

Duchenne Muscular Dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional protein. Antisense-mediated exon skipping is one of the most promising approaches for the treatme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::81320318f725014f1d3f69953e474ae9
https://doi.org/10.1016/j.nmd.2012.06.340

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