Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblasts by an enzyme inhibitor

Nature Medicine

Volumn 5, Issue 1, 1999, Pages 112-115

  Fan, Jian Qiang ^a,e   Ishii, Satoshi ^b   Asano, Naoki ^c   Suzuki, Yoshiyuki ^d  

^a Department of Membrane Biochemistry ^*  (Japan)

^b Usuki Bio Research Center   (Japan)

^c HOKURIKU UNIVERSITY   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1 DEOXYMANNONOJIRIMYCIN; GALACTOSIDASE; GLYCOSPHINGOLIPID;

ARTICLE; CLINICAL FEATURE; COMPETITIVE INHIBITION; DISEASE ASSOCIATION; DRUG EFFECT; ENZYME ACTIVITY; ENZYME INHIBITION; FABRY DISEASE; HEART INFARCTION; HUMAN; HUMAN CELL; KIDNEY FAILURE; LIPID METABOLISM; PRIORITY JOURNAL;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; ANIMALS; BIOLOGICAL TRANSPORT; CELLS, CULTURED; ENZYME INHIBITORS; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HUMANS; HYDROGEN-ION CONCENTRATION; LYSOSOMES; MICE; MICE, TRANSGENIC;

MUS MUSCULUS;

EID: 0033018496     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/4801     Document Type: Article

References (22)

1. Brady, R.O. et al. Enzymatic defect in Fabry's disease. N. Engl. J. Med. 276, 1163-1167 (1967).
2. Desnick, R.J., Ioannou, Y.A. & Eng, C.M. in The Metabolic and Molecular Bases of Inherited Disease (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2741-2784 (McCraw-Hill, New York, 1995).
3. Romeo, C. et al. Residual activity of α-galactosidase A in Fabry's disease. Biochem. Genet. 13, 615-628 (1975).
4. Bishop, D.F., Grabowski, G.A. & Desnick, R.J. Fabry disease: An asymptomatic hemizygote with significant residual α-galactosidase A activity. Am. J. Hum. Genet. 33, 71A (1981).
5. Ishii, S., Kase, R., Sakuraba, H. & Suzuki, Y. Characterization of a mutant α-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem. Biophys. Res. Comm. 197, 1585-1589 (1993).
6. Lemansky, P. et al. Synthesis and processing of α-galactosidase A in human fibroblasts. J. Biol. Chem. 262, 2062-2065 (1987).
7. Ishii, S. et al. Aggregation of the inactive form of human α-galactosidase in the endoplasmic reticulum. Biochem. Biophys. Res. Comm. 220, 812-815 (1996).
8. Sakuraba, H. et al. Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am. J. Hum. Genet. 47, 784-789 (1990).
9. Ishii, S., Sakuraba, H. & Suzuki, Y. Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum. Genet. 89, 29-32 (1992).
10. Ishii, S. et al. α-Galactosidase transgenic mouse: Heterogenous gene expression and posttranslational glycosylation in tissues. Glycoconj. J. 15, 591-594 (1998).
11. Gilliland, C., Perrin, S., Blanchard, K. & Bunn, H.F. Analysis of cytokine mRNA and DNA: Detection and quantitation by competitive polymerase chain reaction. Proc. Natl. Acad. Sci. USA 87, 2725-2729 (1990).
12. Fleischer, S. & Kervina, M. Subcellular fractionation of rat liver. Methods Enzymol. 31, 6-41 (1974).
13. Hurtley, S.M. & Helenius, A. Protein oligomerization in the endoplasmic reticulum. Annu. Rev. Cell Biol. 5, 277-307 (1989).
14. Dale, M. P. et al. Reversible inhibitors of β-glucosidase. Biochemistry 24, 3530-3539 (1985).
15. Asano, N., Oseki, K., Kizu, H. & Matsui, K. Nitrogen-in-the-ring pyranoses and furanoses: Structural basis of inhibition of mammalian glycosidases. J. Med. Chem. 37, 3701-3706 (1994).
16. Asano, N. et al. Homonojirimycin isomers and glycosides from Aglaonema treubii. J. Nat. Prod. 60, 98-101 (1997).
17. Block, T.M. et al. Treatment of chronic hepadnavirus infection in a woodchuck animal model with an inhibitor of protein folding and trafficking. Nature Med. 4, 610-614 (1998).
18. Goss, P.E. et al. A phase I study of swainsonine in patients with advanced malignancies. Cancer Res. 54, 1450-1457 (1994).
19. Abe, A., Radin, N. S. & Shayman, J.A. Induction of glucosylceramide synthase by synthase inhibitors and ceramide. Biochim. Biophys. Acta 1299, 333-341 (1996).
20. Neuenhofer, S., Schwarzmann, G., Egge, H. & Sandhoff, K. Synthesis of lysogangliosides. Biochemistry 24, 525-532 (1985).
21. 14C]-Ceramide synthesis by sphingolipid ceramide N-deacylase: New assay for ceramidase activity detection. Anal. Biochem. 247, 52-57 (1997).
22. Oshima, A. et al. Intracellular processing and maturation of mutant gene products in hereditary β-galactosidase deficiency (β-galactosidosis). Hum. Genet. 93, 109-114 (1994).