Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Elena Barbon"'
Publikováno v:
Frontiers in Genome Editing, Vol 6 (2024)
The liver is an essential organ of the body that performs several vital functions, including the metabolism of biomolecules, foreign substances, and toxins, and the production of plasma proteins, such as coagulation factors. There are hundreds of gen
Externí odkaz:
https://doaj.org/article/32109d96a87b414185b62162a0b6742f
Autor:
Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch
Publikováno v:
Molecular Metabolism, Vol 81, Iss , Pp 101899- (2024)
Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death genera
Externí odkaz:
https://doaj.org/article/51f4889c5f3c445fbc764529166584d8
Autor:
Lucille Rossiaud, Pascal Fragner, Elena Barbon, Antoine Gardin, Manon Benabides, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Karine Giraud-Triboult, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The deficiency of this enzyme, involved in cytosolic glycogen degradation, leads to
Externí odkaz:
https://doaj.org/article/3fb7ea44045d4969bdae8d1733b5cf40
Autor:
Robert A. Ariëns, Beverley J. Hunt, Ejaife O. Agbani, Josefin Ahnström, Robert Ahrends, Raza Alikhan, Alice Assinger, Zsuzsa Bagoly, Alessandra Balduini, Elena Barbon, Christopher D. Barrett, Paul Batty, Jorge David Aivazoglou Carneiro, Wee Shian Chan, Moniek deMaat, Kerstin deWit, Cécile Denis, Martin H. Ellis, Renee Eslick, Hongxia Fu, Catherine P. M. Hayward, Benoit Ho‐Tin‐Noé, Frederikus A. Klok, Riten Kumar, Karin Leiderman, Rustem I. Litvinov, Nigel Mackman, Zoe McQuilten, Matthew D. Neal, William A. E. Parker, Roger J. S. Preston, Julie Rayes, Alireza R. Rezaie, Lara N. Roberts, Bianca Rocca, Susan Shapiro, Deborah M. Siegal, Lirlândia P. Sousa, Katsue Suzuki‐Inoue, Tahira Zafar, Jiaxi Zhou
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 6, Iss 5, Pp n/a-n/a (2022)
Abstract 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 virtually, but this year’s in‐person format will allow the ever‐so‐i
Externí odkaz:
https://doaj.org/article/f79ff8eebaef425b98250762e3be6774
Autor:
Michela Lisjak, Alessia De Caneva, Thibaut Marais, Elena Barbon, Maria Grazia Biferi, Fabiola Porro, Adi Barzel, Lorena Zentilin, Mark A. Kay, Federico Mingozzi, Andrés F. Muro
Publikováno v:
Frontiers in Genome Editing, Vol 4 (2022)
Many inborn errors of metabolism require life-long treatments and, in severe conditions involving the liver, organ transplantation remains the only curative treatment. Non-integrative AAV-mediated gene therapy has shown efficacy in adult patients. Ho
Externí odkaz:
https://doaj.org/article/8b673b0e33fa4dbfbfb0304e87ef4951
Autor:
Elena Barbon, Gabriel Ayme, Amel Mohamadi, Jean‐François Ottavi, Charlotte Kawecki, Caterina Casari, Sebastien Verhenne, Solenne Marmier, Laetitia van Wittenberghe, Severine Charles, Fanny Collaud, Cecile V Denis, Olivier D Christophe, Federico Mingozzi, Peter J Lenting
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 4, Pp n/a-n/a (2020)
Abstract Novel therapies for hemophilia, including non‐factor replacement and in vivo gene therapy, are showing promising results in the clinic, including for patients having a history of inhibitor development. Here, we propose a novel therapeutic
Externí odkaz:
https://doaj.org/article/4434607219fc41c0b6465b55049e9dff
Influence of Pre-existing Anti-capsid Neutralizing and Binding Antibodies on AAV Vector Transduction
Autor:
Zachary Fitzpatrick, Christian Leborgne, Elena Barbon, Elisa Masat, Giuseppe Ronzitti, Laetitia van Wittenberghe, Alban Vignaud, Fanny Collaud, Séverine Charles, Marcelo Simon Sola, Fabienne Jouen, Olivier Boyer, Federico Mingozzi
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 9, Iss , Pp 119-129 (2018)
Pre-existing immunity to adeno-associated virus (AAV) is highly prevalent in humans and can profoundly impact transduction efficiency. Despite the relevance to AAV-mediated gene transfer, relatively little is known about the fate of AAV vectors in th
Externí odkaz:
https://doaj.org/article/c07dc0742e12415387c9f3ce99b267af
Autor:
Annalisa Lattanzi, Stephanie Duguez, Arianna Moiani, Araksya Izmiryan, Elena Barbon, Samia Martin, Kamel Mamchaoui, Vincent Mouly, Francesco Bernardi, Fulvio Mavilio, Matteo Bovolenta
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 11-19 (2017)
Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct
Externí odkaz:
https://doaj.org/article/88c9ce137af0434d9ad8ef36a9936d97
Autor:
Mojca Tajnik, Malgorzata Ewa Rogalska, Erica Bussani, Elena Barbon, Dario Balestra, Mirko Pinotti, Franco Pagani
Publikováno v:
PLoS Genetics, Vol 12, Iss 5, p e1006082 (2016)
Mutations that result in amino acid changes can affect both pre-mRNA splicing and protein function. Understanding the combined effect is essential for correct diagnosis and for establishing the most appropriate therapeutic strategy at the molecular l
Externí odkaz:
https://doaj.org/article/aea373d5d7594238a4dfee634632b7f1
Autor:
Elena Barbon, Mattia Ferrarese, Laetitia van Wittenberghe, Peggy Sanatine, Giuseppe Ronzitti, Fanny Collaud, Pasqualina Colella, Mirko Pinotti, Federico Mingozzi
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)
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 modified U1snRNAs as therapeutic tools is limited by the availability of cellular and animal m
Externí odkaz:
https://doaj.org/article/4c15efae9b224fc59c9992b12979aab5