Article
Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
EBioMedicine - 1 Nov 2020
Colella Pasqualina, Sellier Pauline, Gomez Manuel J, Biferi Maria G, Tanniou Guillaume, Guerchet Nicolas, Cohen-Tannoudji Mathilde, Moya-Nilges Maryse, van Wittenberghe Laetitia, Daniele Natalie, Gjata Bernard, Krijnse-Locker Jacomina, Collaud Fanny, Simon-Sola Marcelo, Charles Severine, Cagin Umut, Mingozzi Federico
Abstract excerpt
BACKGROUND: Pompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its highly impaired respiratory phenotype. METHODS: Here we developed a new mouse model of PD crossing Gaa KOB6;129 with DBA2/J mice. We subsequently treated Gaa KODBA2/J...
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