Article
Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.
International journal of molecular sciences - 4 Jun 2022
Aguilar-González Araceli, González-Correa Juan Elías, Barriocanal-Casado Eliana, Ramos-Hernández Iris, Lerma-Juárez Miguel A, Greco Sara, Rodríguez-Sevilla Juan José, Molina-Estévez Francisco Javier, Montalvo-Romeral Valle, Ronzitti Giuseppe, Sánchez-Martín Rosario María, Martín Francisco, Muñoz Pilar
Abstract excerpt
Pompe disease (PD) is a rare disorder caused by mutations in the acid alpha-glucosidase (GAA) gene. Most gene therapies (GT) partially rely on the cross-correction of unmodified cells through the uptake of the GAA enzyme secreted by corrected cells. In the present study, we generated isogenic murine GAA-KO cell lines resembling severe mutations from Pompe patients. All of the generated GAA-KO cells lacked GAA...
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