Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Aurelie Goyenvalle"'
Autor:
Simon Krooss, Sonja Werwitzke, Johannes Kopp, Alice Rovai, Dirk Varnholt, Amelie S Wachs, Aurelie Goyenvalle, Annemieke Aartsma-Rus, Michael Ott, Andreas Tiede, Jörg Langemeier, Jens Bohne
Publikováno v:
PLoS Genetics, Vol 17, Iss 1, p e1009345 (2021)
[This corrects the article DOI: 10.1371/journal.pgen.1008690.].
Externí odkaz:
https://doaj.org/article/a26d3f4f82404073bcc69a0fa832e943
Autor:
Simon Krooss, Sonja Werwitzke, Johannes Kopp, Alice Rovai, Dirk Varnholt, Amelie S Wachs, Aurelie Goyenvalle, Annemieke Aarstma-Rus, Michael Ott, Andreas Tiede, Jörg Langemeier, Jens Bohne
Publikováno v:
PLoS Genetics, Vol 16, Iss 4, p e1008690 (2020)
Loss-of-function mutations in the human coagulation factor 9 (F9) gene lead to hemophilia B. Here, we dissected the consequences and the pathomechanism of a non-coding mutation (c.2545A>G) in the F9 3' untranslated region. Using wild type and mutant
Externí odkaz:
https://doaj.org/article/f0889bda79284fe9a96709cedc327b4e
Autor:
Saleh Omairi, Kwan-Leong Hau, Henry Collin-Hooper, Federica Montanaro, Aurelie Goyenvalle, Luis Garcia, Ketan Patel
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 9, Iss C, Pp 409-418 (2017)
Exon skipping mediated by tricyclo-DNA (tc-DNA) antisense oligonucleotides has been shown to induce significant levels of dystrophin restoration in mdx, a mouse model of Duchenne muscular dystrophy. This translates into significant improvement in key
Externí odkaz:
https://doaj.org/article/d1b8a4b5cb11485c8560797a0dfebc28
Autor:
Lucía Echevarría, Aurelie Goyenvalle
Publikováno v:
Methods Mol Biol
Methods in Molecular Biology ISBN: 9781071620090
Methods in Molecular Biology ISBN: 9781071620090
Antisense oligonucleotides (ASO) therapeutics hold great promise for the treatment of numerous diseases, and several ASO drugs have now reached market approval, confirming the potential of this approach. However, some candidates have also failed, due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917c0066d5d0efb5ecfd53feb8fea326
https://pubmed.ncbi.nlm.nih.gov/35213032
https://pubmed.ncbi.nlm.nih.gov/35213032
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:
Karima, Relizani, Aurelie, Goyenvalle
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1828
Antisense oligonucleotides (AONs) have been actively developed for more than 30 years as a form of molecular medicine and represent promising therapeutic tools for many disorders. Significant progress has been made toward their clinical development i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::82ef558a77c5cdc50d159ab2063b1ba3
https://pubmed.ncbi.nlm.nih.gov/30171555
https://pubmed.ncbi.nlm.nih.gov/30171555
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:
Karima, Relizani, Aurelie, Goyenvalle
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1687
Antisense oligonucleotides (AONs) hold great promise for therapeutic splice-switching correction in many genetic diseases and in particular for Duchenne muscular dystrophy (DMD), where AONs can be used to reframe the dystrophin transcript and give ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c25389fac4e32546d850808103fd8571
https://pubmed.ncbi.nlm.nih.gov/29067663
https://pubmed.ncbi.nlm.nih.gov/29067663
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