Search Results - "Barbon, Elena"

Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction by Fitzpatrick, Zachary, Leborgne, Christian, Barbon, Elena, Masat, Elisa, Ronzitti, Giuseppe, van Wittenberghe, Laetitia, Vignaud, Alban, Collaud, Fanny, Charles, Séverine, Simon Sola, Marcelo, Jouen, Fabienne, Boyer, Olivier, Mingozzi, Federico

“…Pre-existing immunity to adeno-associated virus (AAV) is highly prevalent in humans and can profoundly impact transduction efficiency. Despite the relevance to…”
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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function by Tajnik, Mojca, Rogalska, Malgorzata Ewa, Bussani, Erica, Barbon, Elena, Balestra, Dario, Pinotti, Mirko, Pagani, Franco

“…Mutations that result in amino acid changes can affect both pre-mRNA splicing and protein function. Understanding the combined effect is essential for correct…”
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In vivo liver targeted genome editing as therapeutic approach: progresses and challenges by Simoni, Chiara, Barbon, Elena, Muro, Andrés F, Cantore, Alessio

“…The liver is an essential organ of the body that performs several vital functions, including the metabolism of biomolecules, foreign substances, and toxins,…”
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Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts by Pignani, Silvia, Zappaterra, Federico, Barbon, Elena, Follenzi, Antonia, Bovolenta, Matteo, Bernardi, Francesco, Branchini, Alessio, Pinotti, Mirko

“…Engineered transcription factors (TF) have expanded our ability to modulate gene expression and hold great promise as bio-therapeutics. The first-generation…”
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Single‐domain antibodies targeting antithrombin reduce bleeding in hemophilic mice with or without inhibitors by Barbon, Elena, Ayme, Gabriel, Mohamadi, Amel, Ottavi, Jean‐François, Kawecki, Charlotte, Casari, Caterina, Verhenne, Sebastien, Marmier, Solenne, van Wittenberghe, Laetitia, Charles, Severine, Collaud, Fanny, Denis, Cecile V, Christophe, Olivier D, Mingozzi, Federico, Lenting, Peter J

“…Novel therapies for hemophilia, including non‐factor replacement and in vivo gene therapy, are showing promising results in the clinic, including for patients…”
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Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System by Lattanzi, Annalisa, Duguez, Stephanie, Moiani, Arianna, Izmiryan, Araksya, Barbon, Elena, Martin, Samia, Mamchaoui, Kamel, Mouly, Vincent, Bernardi, Francesco, Mavilio, Fulvio, Bovolenta, Matteo

“…Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a CRISPR…”
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Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy by Muñoz, Sergio, Bertolin, Joan, Jimenez, Veronica, Jaén, Maria Luisa, Garcia, Miquel, Pujol, Anna, Vilà, Laia, Sacristan, Victor, Barbon, Elena, Ronzitti, Giuseppe, El Andari, Jihad, Tulalamba, Warut, Pham, Quang Hong, Ruberte, Jesus, VandenDriessche, Thierry, Chuah, Marinee K., Grimm, Dirk, Mingozzi, Federico, Bosch, Fatima

“…Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy…”
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Promoterless Gene Targeting Approach Combined to CRISPR/Cas9 Efficiently Corrects Hemophilia B Phenotype in Neonatal Mice by Lisjak, Michela, De Caneva, Alessia, Marais, Thibaut, Barbon, Elena, Biferi, Maria Grazia, Porro, Fabiola, Barzel, Adi, Zentilin, Lorena, Kay, Mark A, Mingozzi, Federico, Muro, Andrés F

“…Many inborn errors of metabolism require life-long treatments and, in severe conditions involving the liver, organ transplantation remains the only curative…”
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Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells by Rossiaud, Lucille, Fragner, Pascal, Barbon, Elena, Gardin, Antoine, Benabides, Manon, Pellier, Emilie, Cosette, Jérémie, El Kassar, Lina, Giraud-Triboult, Karine, Nissan, Xavier, Ronzitti, Giuseppe, Hoch, Lucile

“…Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the gene encoding the glycogen debranching enzyme (GDE). The…”
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Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics by Barbon, Elena, Ferrarese, Mattia, van Wittenberghe, Laetitia, Sanatine, Peggy, Ronzitti, Giuseppe, Collaud, Fanny, Colella, Pasqualina, Pinotti, Mirko, Mingozzi, Federico

“…Disease-causing splicing mutations can be rescued by variants of the U1 small nuclear RNA (U1snRNAs). However, the evaluation of the efficacy and safety of…”
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IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies by Leborgne, Christian, Barbon, Elena, Alexander, Jeffrey, Hanby, Hayley, Delignat, Sandrine, Cohen, Daniel, Collaud, Fanny, Muraleetharan, Saghana, Lupo, Dan, Silverberg, Joseph, Huang, Karen, van Wittengerghe, Laetitia, Marolleau, Béatrice, Miranda, Adeline, Fabiano, Anna, Daventure, Victoria, Beck, Heena, Anguela, Xavier, Ronzitti, Giuseppe, Armour, Sean, Lacroix-Desmazes, Sebastien, Mingozzi, Federico

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Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor by Barbon, Elena, Kawecki, Charlotte, Marmier, Solenne, Sakkal, Aboud, Collaud, Fanny, Charles, Severine, Ronzitti, Giuseppe, Casari, Caterina, Christophe, Olivier, Denis, Cécile, Lenting, Peter J., Mingozzi, Federico

“…Abstract Von Willebrand disease (VWD), the most common inherited bleeding disorder in humans, is caused by quantitative or qualitative defects in von…”
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Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides by Balestra, Dario, Barbon, Elena, Scalet, Daniela, Cavallari, Nicola, Perrone, Daniela, Zanibellato, Silvia, Bernardi, Francesco, Pinotti, Mirko

“…Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here…”
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Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides by Balestra, Dario, Barbon, Elena, Scalet, Daniela, Cavallari, Nicola, Perrone, Daniela, Zanibellato, Silvia, Bernardi, Francesco, Pinotti, Mirko

“…Mutations affecting specific splicing regulatory elements offer suitable models to better understand their interplay and to devise therapeutic strategies. Here…”
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Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor by Barbon, Elena, Kawecki, Charlotte, Marmier, Solenne, Sakkal, Aboud, Collaud, Fanny, Charles, Severine, Ronzitti, Giuseppe, Casari, Caterina, Christophe, Olivier D., Denis, Cécile V., Lenting, Peter J., Mingozzi, Federico

“…Von Willebrand disease (VWD), the most common inherited bleeding disorder in humans, is caused by quantitative or qualitative defects in von Willebrand factor…”
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Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model by Donadon, Irving, Pinotti, Mirko, Rajkowska, Katarzyna, Pianigiani, Giulia, Barbon, Elena, Morini, Elisabetta, Motaln, Helena, Rogelj, Boris, Mingozzi, Federico, Slaugenhaupt, Susan A, Pagani, Franco

“…Abstract Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204+6T>C) that negatively affects the…”
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An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes by Barbon, Elena, Pignani, Silvia, Branchini, Alessio, Bernardi, Francesco, Pinotti, Mirko, Bovolenta, Matteo

“…Tailored approaches to restore defective transcription responsible for severe diseases have been poorly explored. We tested transcription activator-like…”
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IgG-cleaving endopeptidase enables in vivo gene therapy in the presence of anti-AAV neutralizing antibodies by Leborgne, Christian, Barbon, Elena, Alexander, Jeffrey M., Hanby, Hayley, Delignat, Sandrine, Cohen, Daniel M., Collaud, Fanny, Muraleetharan, Saghana, Lupo, Dan, Silverberg, Joseph, Huang, Karen, van Wittengerghe, Laetitia, Marolleau, Béatrice, Miranda, Adeline, Fabiano, Anna, Daventure, Victoria, Beck, Heena, Anguela, Xavier M., Ronzitti, Giuseppe, Armour, Sean M., Lacroix-Desmazes, Sebastien, Mingozzi, Federico

“…Neutralizing antibodies to adeno-associated virus (AAV) vectors are highly prevalent in humans 1 , 2 , and block liver transduction 3 – 5 and vector…”
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Illustrated State‐of‐the‐Art Capsules of the ISTH 2022 Congress by Ariëns, Robert A., Hunt, Beverley J., Agbani, Ejaife O., Ahnström, Josefin, Ahrends, Robert, Alikhan, Raza, Assinger, Alice, Bagoly, Zsuzsa, Balduini, Alessandra, Barbon, Elena, Barrett, Christopher D., Batty, Paul, Carneiro, Jorge David Aivazoglou, Chan, Wee Shian, Maat, Moniek, Wit, Kerstin, Denis, Cécile, Ellis, Martin H., Eslick, Renee, Fu, Hongxia, Hayward, Catherine P. M., Ho‐Tin‐Noé, Benoit, Klok, Frederikus A., Kumar, Riten, Leiderman, Karin, Litvinov, Rustem I., Mackman, Nigel, McQuilten, Zoe, Neal, Matthew D., Parker, William A. E., Preston, Roger J. S., Rayes, Julie, Rezaie, Alireza R., Roberts, Lara N., Rocca, Bianca, Shapiro, Susan, Siegal, Deborah M., Sousa, Lirlândia P., Suzuki‐Inoue, Katsue, Zafar, Tahira, Zhou, Jiaxi

“…The ISTH London 2022 Congress is the first held (mostly) face‐to‐face again since the COVID‐19 pandemic took the world by surprise in 2020. For 2 years we met…”
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Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics by Barbon, Elena, Ferrarese, Mattia, van Wittenberghe, Laetitia, Sanatine, Peggy, Ronzitti, Giuseppe, Collaud, Fanny, Colella, Pasqualina, Pinotti, Mirko, Mingozzi, Federico

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