Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

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 generally occurs

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Veröffentlicht in:Molecular metabolism (Germany) 2024-03, Vol.81, p.101899-101899, Article 101899
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
AAV
Gene therapy
Glycogen metabolism
Myopathies
Original
Pompe disease
Rat model
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Zusammenfassung: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 generally occurs
ISSN:2212-8778
2212-8778
DOI:10.1016/j.molmet.2024.101899