Article
Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.
Human gene therapy - 1 Jul 2016
Osmon Karlaina J L, Woodley Evan, Thompson Patrick, Ong Katalina, Karumuthil-Melethil Subha, Keimel John G, Mark Brian L, Mahuran Don, Gray Steven J, Walia Jagdeep S
Abstract excerpt
GM2 gangliosidosis is a group of neurodegenerative diseases caused by β-hexosaminidase A (HexA) enzyme deficiency. There is currently no cure. HexA is composed of two similar, nonidentical subunits, α and β, which must interact with the GM2 activator protein (GM2AP), a substrate-specific cofactor, to hydrolyze GM2 ganglioside. Mutations in either subunit or the activator can result in the accumulation of GM2...
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