Article
Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.
Human gene therapy - 20 Sept 2001
Teixeira C A, Sena-Esteves M, Lopes L, Sá Miranda M C, Ribeiro M G
Abstract excerpt
Mutations in the alpha-chain of lysosomal hexosaminidase (EC 3.2.1.52) underlie two distinct biochemical phenotypes known as variant B and variant B1 of G(M2) gangliosidosis. This paper shows that the transduction of human B1-type fibroblasts (producing catalytically inactive alpha-chains) with a retroviral vector encoding the human hexosaminidase alpha-chain leads to a complete correction of HexA (alpha beta...
Topics
- 3T3 Cells
- Animals
- Cell Line
- DNA, Complementary
- Dimerization
- Electrophoresis, Polyacrylamide Gel
- Fibroblasts
- G(M2) Ganglioside
- Gangliosidoses, GM2
- Gene Transfer Techniques
- Genetic Vectors
- Hexosaminidase A
- Hexosaminidase B