Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer.
复制标题
通过腺病毒载体介导的基因转移恢复人 Tay-Sachs 成纤维细胞中己糖胺酶 A 的活性。
DOI：
10.1097/00005072-199756060-00007
复制
发表时间：
1996
期刊：
影响因子：
5.1
通讯作者：
L. Poenaru
中科院分区：
文献类型：
--
作者：
S. Akli;J. Guidotti;E. Vigne;M. Perricaudet;K. Sandhoff;A. Kahn;L. Poenaru
Tay-Sachs disease (TSD) is a lysosomal storage disease due to hexosaminidase A deficiency caused by mutations in the gene for alpha-chain (Hex alpha). A human Hex alpha cDNA was subcloned into the adenoviral plasmid pAdRSV. Hex alpha. Replication-deficient adenovirus was generated by homologous recombination in 293 cells. Human fibroblasts from a patient suffering from TSD were infected with the recombinant adenovirus. TSD fibroblasts expressing the recombinant alpha-chain had an enzyme activity on the natural substrate ranging from 40 to 84% of the normal. The corrected cells secreted up to 25 times more Hex alpha than control fibroblasts. The Hex alpha encoded by the adenovirus was shown to be correctly transported into the lysosomes and to normalize the impaired degradation of GM2 ganglioside in TSD fibroblasts.
