Adeno-associated virus vectors encoding modified G6PC and uses thereof
AssigneeThe United States of America, as represented by the Secretary, Department of Health and Human Services
InventorJanice J. Chou
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Abstract
Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-α (G6Pase-α) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-α. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.
Claims10
A recombinant AAV (rAAV) comprising a nucleic acid molecule encoding a modified glucose-6-phosphatase-α(G6Pase-α), wherein the modified G6Pase-α comprises a serine to cysteine substitution at amino acid 298 of human G6Pase-α (SEQ ID NO:
- 2), and wherein the nucleic acid molecule encoding the modified G6Pase-α is operably linked to a promoter.
Dependencies are inferred from the claim text.