Disease: GM2-gangliosidosis- B- B1- AB variant
- A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease
- A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease
- Biochemical consequences of mutations causing the GM2 gangliosidoses
- Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis
- The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A