Ontology highlight
ABSTRACT:
SUBMITTER: Biferi MG
PROVIDER: S-EPMC7725667 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Biferi Maria Grazia MG Cohen-Tannoudji Mathilde M García-Silva Andrea A Souto-Rodríguez Olga O Viéitez-González Irene I San-Millán-Tejado Beatriz B Fernández-Carrera Andrea A Pérez-Márquez Tania T Teijeira-Bautista Susana S Barrera Soraya S Domínguez Vanesa V Marais Thibaut T González-Fernández África Á Barkats Martine M Ortolano Saida S
Molecular therapy. Methods & clinical development 20201022
Fabry disease is a rare X-linked disorder affecting α-galactosidase A, a rate-limiting enzyme in lysosomal catabolism of glycosphingolipids. Current treatments present important limitations, such as low half-life and limited distribution, which gene therapy can overcome. The aim of this work was to test a novel adeno-associated viral vector, serotype 9 (AAV9), ubiquitously expressing human α-galactosidase A to treat Fabry disease (scAAV9-PGK-GLA). The vector was preliminary tested in newborns of ...[more]