Expression of human β-hexosaminidase α-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells

Nature Medicine

Volumn 2, Issue 4, 1996, Pages 424-429

  Lacorazza, H Daniel ^a   Flax, Jonathan D ^b   Snyder, Evan Y ^b   Jendoubi, Moxcef ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL TRANSPLANTATION; CONTROLLED STUDY; FETUS; GENE EXPRESSION; GENE TRANSFER; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MOUSE; NERVE CELL; NEWBORN; NONHUMAN; PRIORITY JOURNAL; RETROVIRUS; STEM CELL; TAY SACHS DISEASE; TRANSGENIC MOUSE;

ANIMALS; BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; BRAIN; CELL TRANSPLANTATION; CELLS, CULTURED; GENE EXPRESSION; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; RETROVIRIDAE; STEM CELLS; TAY-SACHS DISEASE;

ANIMALIA; MUS MUSCULUS; UNIDENTIFIED RETROVIRUS;

EID: 0029898457     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/nm0496-424     Document Type: Article

References (24)

1. M2 gangliosldosis. in The Metabolic Basis of Inherited Disease 6th edn. (eds. Schriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1807-1839 (McGraw Hill, New York, 1989).
2. Gieselmann, V. Lysosomal storage diseases. Biochim. Biophys. Acta 1270, 103-136 (1995).
3. Suhr, S.T. & Gage, F.H. Gene therapy for neurologic disease. Arch. Neural. 50, 1252-1268 (1993).
4. Sabaté, O. et al. Transplantation to the rat brain of human neural progenitors that were genetically modified using adenoviruses. Nature Genet. 9, 256-260 (1995).
5. Snyder, E.Y., Taylor, R.M. & Wolfe, J.H. Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature 374, 367-370 (1995).
6. Onifer, S.M., Whittemore, S.R. & Holets, V.R. Variable morphological differentiation of a raphe-derived neuronal cell line following transplantation into the adult rat CNS. Exp. Neural 122, 130-142 (1993).
7. Anton, R. et al. Neural-targeted gene therapy for rodent and primate hemi-parkinsonism. Exp. Neural. 127, 207-218 (1994).
8. Groves, A.K. et al. Repair of demyelinated lesions by transplantation of purified O-2A progenitor cells. Nature 362, 453-455 (1993).
9. Renfraz, P.J., Cunningham, M.G. & McKay, R.D.G. Region-specific differentiation of the hippocampal stem cell line HiB5 upon implantation into the developing mammalian brain. Cell 66, 713-719 (1991).
10. Snyder, E.Y. et al. Multipotent neural cell lines can engraft and participate in development of mouse cerebellum. Cell 68, 33-51 (1992).
11. Morgenstern, J.P. & Land, H. Advanced mammalian gene transfer: High titer retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line. Nucleic Acids Res. 18, 3587-3596 (1990).
12. loannou, Y.A., Bishop, D.F. & Desnick, R.J. Overexpression of human α-galactosidase A results in its intracellular aggregation, crystallization in lysosomes and selective secretion. J. Cell Biol. 119, 1137-1150 (1992).
13. Braun, S.E. et al. Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. Proc. Natl. Acad. Sci. USA 90, 11830-11834 (1993).
14. Hasilik, A. & Neufeld, E.F. Biosynthesis of lysosomal enzymes in fibroblasts: Synthesis as precursor of higher molecular weight. J. Biol. Chem. 255, 4937-4945 (1980).
15. Proia, R.L., d'Azzo, A. & Neufeld, E.F. Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J. Biol. Chem. 259, 3350-3354 (1984).
16. Lacorazza, H.D. & Jendoubi, M. In situ assessment of β-hexosaminidase activity. Bio Techniques 19, 434-439 (1995).
17. Kresse, H., Fuchs, W., Glossl, J., Holtfrerich, D. & Gilberg, W. Liberation of N-acetylglucosamine-6-sulfate by human β-N-acetylhexosaminidase A. J. Biol. Chem. 256, 12926-12932 (1981).
18. Yamanaka, S., Johnson O.N., Norflus F., Boles D.J. & Proia, R.L. Structure and expression of the mouse β-hexosaminidase genes, Hexa and Hexb. Genomics 21, 588-596 (1994).
19. Wileman, T., Harding, C. & Stahl, P. Receptor-mediated endocytosis. Biochem. J. 232, 1-14 (1985).
20. Nolan, C.M. & Sly, W.S. I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization, in The Metabolic Basis of Inherited Disease, 6th edn. (eds. Schriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1589-1601 (McGraw Hill, New York, 1989).
21. Leinekugel, P., Michel, S., Conzelmann, E. & Sandhoff, K. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum. Genet. 88, 513-523 (1992).
22. Yamanaka, S. et al. Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc. Natl. Acad. Sci. USA 91, 9975-9979 (1994).
23. Chen, A.C. & Okayama, H. Calcium phosphate-mediated gene transfer: A highly efficient transfection system for stably transforming cells with plasmid DNA. Bio Tecliniques 6, 632-638 (1988).
24. Chirgwin, J.M., Przybyla, A.E., MacDonald, R.J. & Rutter, W.J. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18, 5294-5299 (1979).