Article
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.
Nature genetics - 1 Oct 1995
Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald M P, Crawley J N, Sandhoff K, Suzuki K, Proia R L
Abstract excerpt
Tay-Sachs and Sandhoff diseases are clinically similar neurodegenerative disorders. These two sphingolipidoses are characterized by a heritable absence of beta-hexosaminidase A resulting in defective GM2 ganglioside degradation. Through disruption of the Hexa and Hexb genes in embryonic stem cell...
Topics
- Animals
- Brain
- Carbohydrate Sequence
- Disease Models, Animal
- Gangliosides
- Hexosaminidase A
- Hexosaminidase B
- Humans
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Neurons
- Phenotype
- Restriction Mapping
- Sandhoff Disease