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- W1567305487 endingPage "224" @default.
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- W1567305487 abstract "This chapter includes a discussion on naturally occurring mutations in GM2 gangliosidois: a compendium. The characterization of complementary DNA clones encoding the subunits of α-hexosaminidase (Hex) set the stage for delineating the mutation basis. Guided by elegant biochemical and genetic studies, these analyses rapidly progressed to other populations and individuals with variant forms of both Tay-Sachs and Sandhoff diseases. Two of the genes, Hex A (αβ) and Hex B (ββ) encode α and β subunits. The third gene, GM2 A, encodes the GM2 activator. Only Hex acting on the GM2 ganglioside–GM2 activator complex, hydrolyze the terminal N-acetylgalactosamine of GM2 ganglioside. Mutations in the Hex A gene, leading to deficiency of Hex A activity, cause Tay-Sachs disease or less severely affected variants. Mutations in the Hex B gene, leading to deficiency of both Hex A and Hex B activities, cause Sandhoff disease or its variants. Mutations in the GM2A gene, leading to defects of the GM2 activator while retaining functional Hex A and Hex B, result in the AB variant of GM2 gangliosidosis. Other studies have described genetic and biochemical heterogeneity that has been largely accounted for the discovery of allelic diversity." @default.
- W1567305487 created "2016-06-24" @default.
- W1567305487 creator A5014598652 @default.
- W1567305487 creator A5076675090 @default.
- W1567305487 creator A5081102730 @default.
- W1567305487 date "2001-01-01" @default.
- W1567305487 modified "2023-10-17" @default.
- W1567305487 title "17. Naturally occurring mutations in GM2 gangliosidosis: A compendium" @default.
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