Article
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
The Journal of biological chemistry - 18 Feb 1994
Banerjee P, Boyers M J, Berry-Kravis E, Dawson G
Abstract excerpt
Deficiency of the lysosomal enzyme beta-hexosaminidase B (beta-Hex B) (a homodimer, beta beta), caused by a defect in the HEX B gene encoding the beta-chain, is usually accompanied by an absence of beta-Hex A (a heterodimer, alpha beta), thereby causing Sandhoff disease. However, we have earlier...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Cell Line
- Exons
- Female
- Genetic Carrier Screening
- Hexosaminidase A
- Hexosaminidase B
- Humans
- Macromolecular Substances
- Male
- Motor Neuron Disease
- Point Mutation
- Protein Structure, Secondary
- Sandhoff Disease
- Serine