Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Aurélie, Goyenvalle"'
Autor:
Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David-Alexandre Trégouët
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases being unexplained. We identif
Externí odkaz:
https://doaj.org/article/db17dcabceb24f659a6d0a198c2d9022
Autor:
Marika Faiella, Giada Botti, Alessandro Dalpiaz, Lorenzo Gnudi, Aurélie Goyenvalle, Barbara Pavan, Daniela Perrone, Matteo Bovolenta, Elena Marchesi
Publikováno v:
Pharmaceutics, Vol 16, Iss 8, p 1023 (2024)
Delivery represents a major hurdle to the clinical advancement of oligonucleotide therapeutics for the treatment of disorders such as Duchenne muscular dystrophy (DMD). In this preliminary study, we explored the ability of 2′-O-methyl-phosphorothio
Externí odkaz:
https://doaj.org/article/f564dd01072d4f529e4c43386b9bc6fe
Autor:
Amel Saoudi, Sacha Barberat, Olivier le Coz, Ophélie Vacca, Mathilde Doisy Caquant, Thomas Tensorer, Eric Sliwinski, Luis Garcia, Francesco Muntoni, Cyrille Vaillend, Aurélie Goyenvalle
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 173-188 (2023)
The mdx52 mouse model recapitulates a frequent mutation profile associated with brain involvement in Duchenne muscular dystrophy. Deletion of exon 52 impedes expression of two dystrophins (Dp427, Dp140) expressed in brain, and is eligible for therape
Externí odkaz:
https://doaj.org/article/14cbed576c444c01be01ae87e64766c9
Autor:
Flavien Bizot, Remko Goossens, Thomas Tensorer, Sergei Dmitriev, Luis Garcia, Annemieke Aartsma-Rus, Pietro Spitali, Aurélie Goyenvalle
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 30, Iss , Pp 606-620 (2022)
Antisense-mediated exon skipping is one of the most promising therapeutic strategies for Duchenne muscular dystrophy (DMD), and some antisense oligonucleotide (ASO) drugs have already been approved by the US FDA despite their low efficacy. The potent
Externí odkaz:
https://doaj.org/article/9ed6142a650e4457965266ed6794f481
Autor:
Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P. Kelly, Federica Montanaro, Jennifer E. Morgan, Maaike van Putten, Annemieke Aartsma-Rus, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Publikováno v:
Biomedicines, Vol 11, Iss 12, p 3243 (2023)
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that disrupt the open reading frame and thus prevent production of functional dystrophin proteins. Recent advances in DMD treatment, notably exon skipping and AAV gene therapy,
Externí odkaz:
https://doaj.org/article/29a1434a711345e993444660698a38fe
Autor:
Philippine Aupy, Faouzi Zarrouki, Quentin Sandro, Cécile Gastaldi, Pierre-Olivier Buclez, Kamel Mamchaoui, Luis Garcia, Cyrille Vaillend, Aurélie Goyenvalle
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1037-1047 (2020)
Gene therapy and antisense approaches hold promise for the treatment of Duchenne muscular dystrophy (DMD). The advantages of both therapeutic strategies can be combined by vectorizing antisense sequences into an adeno-associated virus (AAV) vector. W
Externí odkaz:
https://doaj.org/article/91dce3aef9fb4e71bff890b0fec6ee34
Autor:
Omar Soukarieh, Caroline Meguerditchian, Carole Proust, Dylan Aïssi, Mélanie Eyries, Aurélie Goyenvalle, David-Alexandre Trégouët
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
High-throughput sequencing (HTS) technologies are revolutionizing the research and molecular diagnosis landscape by allowing the exploration of millions of nucleotide sequences at an unprecedented scale. These technologies are of particular interest
Externí odkaz:
https://doaj.org/article/855c4ba593564fb58cf7a3e3fbf52c62
Autor:
Amel Saoudi, Claire Fergus, Talia Gileadi, Federica Montanaro, Jennifer E. Morgan, Vincent P. Kelly, Thomas Tensorer, Luis Garcia, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Publikováno v:
Cells, Vol 12, Iss 6, p 908 (2023)
Nucleic acid-based therapies have demonstrated great potential for the treatment of monogenetic diseases, including neurologic disorders. To date, regulatory approval has been received for a dozen antisense oligonucleotides (ASOs); however, these che
Externí odkaz:
https://doaj.org/article/beb2afcd99a94239af7d9e7e2d20f5e8
Autor:
Flavien Bizot, Abdallah Fayssoil, Cécile Gastaldi, Tabitha Irawan, Xaysongkhame Phongsavanh, Arnaud Mansart, Thomas Tensorer, Elise Brisebard, Luis Garcia, Rudolph L Juliano, Aurélie Goyenvalle
Publikováno v:
Cells, Vol 12, Iss 5, p 702 (2023)
Nucleic acid-based therapeutics hold great promise for the treatment of numerous diseases, including neuromuscular disorders, such as Duchenne muscular dystrophy (DMD). Some antisense oligonucleotide (ASO) drugs have already been approved by the US F
Externí odkaz:
https://doaj.org/article/ed21f1e23d1241d6b1558a2d8920fe6d
Autor:
Amel Saoudi, Faouzi Zarrouki, Catherine Sebrié, Charlotte Izabelle, Aurélie Goyenvalle, Cyrille Vaillend
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 9 (2021)
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://doaj.org/article/28dee72759884abf88a3d5e1e42ac5d0