Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase

Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, i...

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Udgivet i:Sci Transl Med
Main Authors: Puzzo, Francesco, Colella, Pasqualina, Biferi, Maria G., Bali, Deeksha, Paulk, Nicole K., Vidal, Patrice, Collaud, Fanny, Simon-Sola, Marcelo, Charles, Severine, Hardet, Romain, Leborgne, Christian, Meliani, Amine, Cohen-Tannoudji, Mathilde, Astord, Stephanie, Gjata, Bernard, Sellier, Pauline, van Wittenberghe, Laetitia, Vignaud, Alban, Boisgerault, Florence, Barkats, Martine, Laforet, Pascal, Kay, Mark A., Koeberl, Dwight D., Ronzitti, Giuseppe, Mingozzi, Federico
Format: Artigo
Sprog:Inglês
Udgivet: 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5826611/
https://ncbi.nlm.nih.gov/pubmed/29187643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aam6375
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