Article
Biochemistry and genetics of Tay-Sachs disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 1991
Gravel R A, Triggs-Raine B L, Mahuran D J
Abstract excerpt
Tay-Sachs disease is one of the few neurodegenerative diseases of known causes. It results from mutations of the HEXA gene encoding the alpha subunit of beta-hexosaminidase, producing a destructive ganglioside accumulation in lysosomes, principally in neurons. With the determination of the protei...
Topics
- Hexosaminidase A
- Humans
- Mutation
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases