Zobrazeno 1 - 10
of 250
pro vyhledávání: '"Federico, Mingozzi"'
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:
Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Maple syrup urine disease (MSUD) is a rare inborn error of metabolism, which is currently treated with life-long low-protein diet that can be challenging to maintain. Here the authors develop an AAV8-directed gene therapy providing sustainable diseas
Externí odkaz:
https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179
Autor:
Helena Costa-Verdera, Fanny Collaud, Christopher R. Riling, Pauline Sellier, Jayme M. L. Nordin, G. Michael Preston, Umut Cagin, Julien Fabregue, Simon Barral, Maryse Moya-Nilges, Jacomina Krijnse-Locker, Laetitia van Wittenberghe, Natalie Daniele, Bernard Gjata, Jeremie Cosette, Catalina Abad, Marcelo Simon-Sola, Severine Charles, Mathew Li, Marco Crosariol, Tom Antrilli, William J. Quinn, David A. Gross, Olivier Boyer, Xavier M. Anguela, Sean M. Armour, Pasqualina Colella, Giuseppe Ronzitti, Federico Mingozzi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Pompe disease is currently treated with enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase (GAA). Here, the authors show hepatic-directed gene therapy with AAV vectors enhances GAA bioavailability compared with ERT, result
Externí odkaz:
https://doaj.org/article/ecdd7a66d5fe4b0e825ff6e616f835cf
Autor:
Corinne J. Smith, Nikki Ross, Ali Kamal, Kevin Y. Kim, Elizabeth Kropf, Pascal Deschatelets, Cedric Francois, William J. Quinn, Inderpal Singh, Anna Majowicz, Federico Mingozzi, Klaudia Kuranda
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
AAV gene transfer is a promising treatment for many patients with life-threatening genetic diseases. However, host immune response to the vector poses a significant challenge for the durability and safety of AAV-mediated gene therapy. Here, we charac
Externí odkaz:
https://doaj.org/article/d9b0d374702f4585b36b080c36e4089e
Autor:
Giulia De Sabbata, Florence Boisgerault, Corrado Guarnaccia, Alessandra Iaconcig, Giulia Bortolussi, Fanny Collaud, Giuseppe Ronzitti, Marcelo Simon Sola, Patrice Vidal, Jeremy Rouillon, Severine Charles, Emanuele Nicastro, Lorenzo D’Antiga, Petr Ilyinskii, Federico Mingozzi, Takashi Kei Kishimoto, Andrés F. Muro
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 169-180 (2021)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked liver disorder caused by partial or total loss of OTC enzyme activity. It is characterized by elevated plasma ammonia, leading to neurological impairments, coma, and death in the most severe
Externí odkaz:
https://doaj.org/article/3a96d0d695e64c20a8383d4f8962ab9a
Autor:
Xiaoxia Shi, Sem J. Aronson, Lysbeth ten Bloemendaal, Suzanne Duijst, Robert S. Bakker, Dirk R. de Waart, Giulia Bortolussi, Fanny Collaud, Ronald P. Oude Elferink, Andrés F. Muro, Federico Mingozzi, Giuseppe Ronzitti, Piter J. Bosma
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 287-297 (2021)
A clinical trial using adeno-associated virus serotype 8 (AAV8)-human uridine diphosphate glucuronosyltransferase 1A1 (hUGT1A1) to treat inherited severe unconjugated hyperbilirubinemia (Crigler-Najjar syndrome) is ongoing, but preclinical data sugge
Externí odkaz:
https://doaj.org/article/5f312cc89674405188672f6d384e4ef1
Autor:
Sem J. Aronson, Robert S. Bakker, Sascha Moenis, Remco van Dijk, Giulia Bortolussi, Fanny Collaud, Xiaoxia Shi, Suzanne Duijst, Lysbeth ten Bloemendaal, Giuseppe Ronzitti, Andrés F. Muro, Federico Mingozzi, Ulrich Beuers, Piter J. Bosma
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 250-258 (2020)
Potency assessment of clinical-grade vector lots is crucial to support adeno-associated virus (AAV) vector release and is required for future marketing authorization. We have developed and validated a cell-based, quantitative potency assay that detec
Externí odkaz:
https://doaj.org/article/edb7a29586e044c8b082be4c5aa3a2dd
Autor:
Robert Ariens, Cecilia Becattini, Markus Bender, Wolfgang Bergmeier, Elisabetta Castoldi, Katrien Devreese, Martin Ellis, David Gailani, Vera Ignjatovic, Paula D. James, Steven Kerrigan, Michele Lambert, Lai Heng Lee, Marcel Levi, Norma Maugeri, Joost Meijers, Juan Melero‐Martin, Alan D. Michelson, Federico Mingozzi, Keith Neeves, Heyu Ni, Anna‐Karin Olsson, Zoltán Prohászka, Marie Ranson, Nicoletta Riva, Yotis Senis, Cornelia H. vanOmmen, Douglas E. Vaughan, John Weisel
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 4, Iss 5, Pp 680-713 (2020)
Abstract The 2020 Congress of the International Society of Thrombosis and Haemostasis (ISTH) was held virtually July 12‐15, 2019, due to the coronavirus disease 2019 pandemic. The congress convenes annually to discuss clinical and basic topics in h
Externí odkaz:
https://doaj.org/article/27a44bdfe6e44090b3974f0f056fbfe5
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 1-18 (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
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