Zobrazeno 1 - 10
of 272
pro vyhledávání: '"Fulvio, Mavilio"'
Autor:
Mégane Brusson, Anne Chalumeau, Pierre Martinucci, Oriana Romano, Tristan Felix, Valentina Poletti, Samantha Scaramuzza, Sophie Ramadier, Cecile Masson, Giuliana Ferrari, Fulvio Mavilio, Marina Cavazzana, Mario Amendola, Annarita Miccio
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 229-246 (2023)
Sickle cell disease (SCD) is due to a mutation in the β-globin gene causing production of the toxic sickle hemoglobin (HbS; α2βS2). Transplantation of autologous hematopoietic stem and progenitor cells (HSPCs) transduced with lentiviral vectors (L
Externí odkaz:
https://doaj.org/article/3980a6e03e034fbb9df4eec0a17d77c9
Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity
Autor:
Michelle Eggers, Charles H Vannoy, Jianyong Huang, Pravinkumar Purushothaman, Jacqueline Brassard, Carlos Fonck, Hui Meng, Mariah J Prom, Michael W Lawlor, Justine Cunningham, Chanchal Sadhu, Fulvio Mavilio
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 1, Pp 1-15 (2021)
Abstract Pompe disease is a severe disorder caused by loss of acid α‐glucosidase (GAA), leading to glycogen accumulation in tissues and neuromuscular and cardiac dysfunction. Enzyme replacement therapy is the only available treatment. AT845 is an
Externí odkaz:
https://doaj.org/article/35fec66cd46f45f6b1e570648c4fe7cb
Autor:
Elizabeth Mercado-Ayón, Nathan Warren, Sarah Halawani, Layne N. Rodden, Lucie Ngaba, Yi Na Dong, Joshua C. Chang, Carlos Fonck, Fulvio Mavilio, David R. Lynch, Hong Lin
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by deficiency of the mitochondrial protein frataxin. Lack of frataxin causes neuronal loss in various areas of the CNS and PNS. In particular, cerebellar neuropathol
Externí odkaz:
https://doaj.org/article/937f332ab4914f01a406fb9a4d915a61
Autor:
Sabine Charrier, Chantal Lagresle-Peyrou, Valentina Poletti, Michael Rothe, Grégory Cédrone, Bernard Gjata, Fulvio Mavilio, Alain Fischer, Axel Schambach, Jean-Pierre de Villartay, Marina Cavazzana, Salima Hacein-Bey-Abina, Anne Galy
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 232-245 (2019)
Genetic deficiency of the nuclease DCLRE1C/Artemis causes radiosensitive severe combined immunodeficiency (RS-SCID) with lack of peripheral T and B cells and increased sensitivity to ionizing radiations. Gene therapy based on transplanting autologous
Externí odkaz:
https://doaj.org/article/3824403f1c8443e1b57c5921ed3b19ae
Autor:
Giandomenico Turchiano, Maria Carmela Latella, Andreas Gogol Döring, Claudia Cattoglio, Fulvio Mavilio, Zsuzsanna Izsvák, Zoltán Ivics, Alessandra Recchia
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0228703 (2020)
[This corrects the article DOI: 10.1371/journal.pone.0112712.].
Externí odkaz:
https://doaj.org/article/8cecaf2f5141488d85d844ad5386fc50
Autor:
Maria Rosa Lidonnici, Ylenia Paleari, Francesca Tiboni, Giacomo Mandelli, Claudia Rossi, Michela Vezzoli, Annamaria Aprile, Carsten Werner Lederer, Alessandro Ambrosi, Franck Chanut, Francesca Sanvito, Andrea Calabria, Valentina Poletti, Fulvio Mavilio, Eugenio Montini, Luigi Naldini, Patrizia Cristofori, Giuliana Ferrari
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 11, Iss , Pp 9-28 (2018)
Gene therapy clinical trials require rigorous non-clinical studies in the most relevant models to assess the benefit-to-risk ratio. To support the clinical development of gene therapy for β-thalassemia, we performed in vitro and in vivo studies for
Externí odkaz:
https://doaj.org/article/fa7c8bf590fd4385824802dbcaeebd2f
Autor:
Valentina Poletti, Fabrizia Urbinati, Sabine Charrier, Guillaume Corre, Roger P. Hollis, Beatriz Campo Fernandez, Samia Martin, Michael Rothe, Axel Schambach, Donald B. Kohn, Fulvio Mavilio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 11, Iss , Pp 167-179 (2018)
Sickle cell disease (SCD) is caused by a mutation (E6V) in the hemoglobin (Hb) β-chain that induces polymerization of Hb tetramers, red blood cell deformation, ischemia, anemia, and multiple organ damage. Gene therapy is a potential alternative to h
Externí odkaz:
https://doaj.org/article/eb2c06bff7d64ce5a72279d990d278a9
Autor:
Leslie Weber, Valentina Poletti, Elisa Magrin, Chiara Antoniani, Samia Martin, Charles Bayard, Hanem Sadek, Tristan Felix, Vasco Meneghini, Michael N. Antoniou, Wassim El-Nemer, Fulvio Mavilio, Marina Cavazzana, Isabelle Andre-Schmutz, Annarita Miccio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 268-280 (2018)
Autologous transplantation of hematopoietic stem cells transduced with a lentiviral vector (LV) expressing an anti-sickling HBB variant is a potential treatment for sickle cell disease (SCD). With a clinical trial as our ultimate goal, we generated L
Externí odkaz:
https://doaj.org/article/86a442d8230844db8aa5394698431fd8
Autor:
Araksya Izmiryan, Clarisse Ganier, Matteo Bovolenta, Alain Schmitt, Fulvio Mavilio, Alain Hovnanian
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 554-567 (2018)
Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VI
Externí odkaz:
https://doaj.org/article/b2ffef89e71c4eed88e785f863c41701
Autor:
Valentina Poletti, Sabine Charrier, Guillaume Corre, Bernard Gjata, Alban Vignaud, Fang Zhang, Michael Rothe, Axel Schambach, H. Bobby Gaspar, Adrian J. Thrasher, Fulvio Mavilio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 9, Iss , Pp 257-269 (2018)
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions. Transplantation of hematopoie
Externí odkaz:
https://doaj.org/article/5801774173f54a5ca585e79a225cd4e4