Article
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.
Proceedings of the National Academy of Sciences of the United States of America - 22 Jul 1997
Liu Y, Hoffmann A, Grinberg A, Westphal H, McDonald M P, Miller K M, Crawley J N, Sandhoff K, Suzuki K, Proia R L
Abstract excerpt
The GM2 activator deficiency (also known as the AB variant), Tay-Sachs disease, and Sandhoff disease are the major forms of the GM2 gangliosidoses, disorders caused by defective degradation of GM2 ganglioside. Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A. The GM2 activator deficiency is caused by mutations in the GM2A gene...
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