Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase.

doi:10.1016/j.ymthe.2020.05.025

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Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase.

Molecular therapy : the journal of the American Society of Gene Therapy - 2 Sept 2020

Cagin Umut, Puzzo Francesco, Gomez Manuel Jose, Moya-Nilges Maryse, Sellier Pauline, Abad Catalina, Van Wittenberghe Laetitia, Daniele Nathalie, Guerchet Nicolas, Gjata Bernard, Collaud Fanny, Charles Severine, Sola Marcelo Simon, Boyer Olivier, Krijnse-Locker Jacomina, Ronzitti Giuseppe, Colella Pasqualina, Mingozzi Federico

Abstract excerpt

Pompe disease is a neuromuscular disorder caused by disease-associated variants in the gene encoding for the lysosomal enzyme acid α-glucosidase (GAA), which converts lysosomal glycogen to glucose. We previously reported full rescue of Pompe disease in symptomatic 4-month-old Gaa knockout (Gaa-/-) mice by adeno-associated virus (AAV) vector-mediated liver gene transfer of an engineered secretable form of GAA...

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PMID: 32526204
DOI: 10.1016/j.ymthe.2020.05.025
PMCID: PMC7474269

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