Single AAV gene therapy with mini-Glycogen Debranching Enzyme for glycogen storage disease type III
Résumé
Glycogen storage disease type III ( is a rare metabolic disorder that affects the liver, skeletal muscles, and heart It is caused by mutations in the AGL gene, which encodes the glycogen debranching enzyme ( However, the use of the full length GDE cDNA in a single adeno associated virus ( vector strategy is a major challenge due to its large size 4 6 kb) Here, we developed a gene therapy strategy for GSDIII using a truncated version of the GDE enzyme delivered by a single rAAV vector to correct skeletal muscles and heart impairment in Agl mice and rats and to decrease glycogen content in skeletal myotubes differentiated from Agl human pluripotent stem cells hiPSC
Domaines
Sciences du Vivant [q-bio]
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P559_Single AAV gene therapy with mini-Glycogen Debranching Enzyme .pdf (2.45 Mo)
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