Processing of sphingolipid activator proteins and the topology of lysosomal digestion

Acta Biochimica Polonica

Volumn 45, Issue 2, 1998, Pages 373-384

  Sandhoff, Konrad ^a   Kolter, Thomas ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Endosomes; Lysosomal storage diseases; Saposins; Sphingolipid activator proteins; Sphingolipidoses

Indexed keywords

GLYCOPROTEIN; GLYCOSPHINGOLIPID; PSAP PROTEIN, HUMAN; PSAP PROTEIN, MOUSE; SPHINGOLIPID ACTIVATOR PROTEIN;

ANIMAL; CELL MEMBRANE; ENDOCYTOSIS; HUMAN; INTRACELLULAR MEMBRANE; LYSOSOME; LYSOSOME STORAGE DISEASE; METABOLISM; MOUSE; REVIEW;

ANIMALS; CELL MEMBRANE; ENDOCYTOSIS; GLYCOPROTEINS; GLYCOSPHINGOLIPIDS; HUMANS; INTRACELLULAR MEMBRANES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MICE; SAPOSINS; SPHINGOLIPID ACTIVATOR PROTEINS;

EID: 0032246118     PISSN: 0001527X     EISSN: None     Source Type: Journal    
DOI: 10.18388/abp.1998_4232     Document Type: Review

References (52)

1. Bradova, V., Smid, F., Ulrich-Bott, B., Roggendorf, W., Paton, B.C. & Harzer, K. (1993) Prosaposin deficiency: Further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. Hum. Genet. 92, 143-152.
2. Braulke, T. (1996) Origin of lysosomal proteins; in Subcellular Biochemistry (Lloyd, I.E. & Mason, R.W., eds.) vol. 27, Biology of the Lysosome, pp. 15-49, Plenum Press, New York.
3. Burkhardt, J.K., Hüttler, S., Klein, A., Möbius, W., Habermann, A., Griffiths, G. & Sandhoff, K. (1997) Accumulation of sphingolipids in SAP-precursor (prosaposin) deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor. Eur. J. Cell Biol. 73, 10-18.
4. Carlsson, S.R., Roth, J., Piller, F. & Fukuda, M. (1988) Isolation and characterization of human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. J. Biol. Chem. 263, 18911-18919.
5. Christomanou, H., Aignesberger, A. & Linke, R.P. (1986) Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro-Absence of one of them in a human Gaucher disease variant. Biol. Chem. Hoppe-Seyler 367, 879-890.
6. M2. Eur. J. Biochem. 123, 455-464.
7. von Figura, K., Hasilik, A. (1986) Lysosomal enzymes and their receptors. Annu Rev. Biochem. 55, 167-193.
8. Fujibayashi, S. & Wenger, D.A. (1986). Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts. Biochim. Biophys. Acta 875, 554-562.
9. Fujita, N., Suzuki, K., Vanier, M.T., Popko, B., Maeda, N., Klein, A., Henseler, M., Sandhoff, K., Nakayasu, H. & Suzuki, K. (1996) Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5, 711-725.
10. Fürst, W. & Sandhoff, K. (1992) Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim. Biophys. Acta 1126, 1-16.
11. Fürst, W., Machleidt, W. & Sandhoff, K. (1988) The precursor of sulfatide activator protein a processed to three different proteins. Biol. Chem. Hoppe-Seyler 369, 317-328.
12. Fürst, W., Schubert, J., Machleidt, W., Meyer, E.H. & Sandhoff, K. (1990) The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. Eur. J. Biochem. 192, 709-714.
13. Glombitza, G.J., Becker, E., Kaiser, H.W. & Sandhoff, K. (1997) Biosynthesis, processing, and intracellular transport of GM2 activator protein in human epidermal keratinocytes. Thetysosomal targeting of the GM2 activator is independent of a mannose-6-phosphate signal. J. Biol. Chem. 272, 5199-5207.
14. Gravel, R.A., Clarke, J.T.R., Kaback, M.M., Mahuran, D., Sandhoff, K. & Suzuki, K. (1995) The GM2 ganglisidoses; in The Metabolic and Molecular Basis of Inherited Disease (Scriver, C., Beaudet, A.L., Sly, W.S. & Valle, D., eds.) pp. 2839-2879, McGraw-Hill.
15. Griffiths, G.W., Hoflack, B., Simons, K., Mellman, I.S. & Kornfeld, S. (1988) The mannose-6-phosphate receptor and the biogenesis of lysosomes. Cell 52, 329-341.
16. Hahn, C.N., del Pilar, M., Schröder, M., Vanier, M.T., Hara, Y., Suzuki, K., Suzuki, K. & d'Azzo, A. (1997) Generalized CNS disease and massive G(M1)-ganglioside accumulation in mice defective in lysosomal acid betagalactosidase. Hum. Mol. Genet. 6, 205-211.
17. Hakomori, S. (1981) Glycosphingolipids in cellular interactions, differentiation and oncogenesis. Annu. Rev. Biochem. 50, 733-764.
18. Harzer, K., Paton, B.C. & Poulos, A. (1989) Sphingolipid activator protein (SAP) deficiency in a 16-week old atypical Gaucher disease patient and his fetal sibling; biochemical signs of combined sphingolipidoses. Eur. J. Pediatr. 149, 31-39.
19. Ho, M.W. & O'Brien, J.S. (1971) Gaucher's Disease: Deficiency of 'acid' beta-glucosidase and reconstitution of enzyme activity in vitro. Proc. Natl. Acad. Sci. U.S.A. 68, 2810-2813.
20. Holmgren, J., Lönnroth, I., Mansson, J.-E. & Svenerholm, L. (1975) Interaction of cholera toxin and membrane GM1 ganglioside of small intestine. Proc. Natl. Acad. Sci. U.S.A. 72, 2520-2524.
21. Karlsson, K.-A. (1989) Animal glycosphingolipids as membrane attachment sites for bacteria. Annu. Rev. Biochem. 58, 309-350.
22. Klein, A., Henseler, M., Klein, C., Suzuki, K., Harzer, K. & Sandhoff, K. (1994) Sphingolipid activator Protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem. Biophys. Res. Commun. 200, 1440-1448.
23. M2-activator protein in Escherichia coli. Biochem. J. 292, 571-576.
24. Kornfeld, S. & Mellman, I. (1989) The biogenesis of lysosomes. Annu. Rev. Cell. Biol. 5, 483-525.
25. Koval, M. & Pagano, R.E. (1989) Lipid recycling between the plasma membrane and intracellular compartments: Transport and metabolism of fluorescent sphingomyelin analogues in cultured fibroblasts. J. Cell Biol. 108, 2169-2181.
26. M2 activator protein with hexosaminidase A. J. Biol Chem. 260, 7568-7572.
27. Li, S.-C., Sonnino, S., Tettamanti, G. & Li, Y.-T. (1988) Characterization of a nonspecific activator protein for the enzymatic hydrolysis of glycolipids. J. Biol. Chem. 263, 6588-6591.
28. M2 activator deficiency manifests cerebellar ganglioside storage and motor impairment. Proc. Natl. Acad. Sci. U.S.A. 94, 8138-8143.
29. Markwell, M.A.K., Svennerholm, L. & Paulson, J.C. (1981) Specific gangliosides function as host cell receptors for Sendai virus. Proc. Natl. Acad. Sci. U.S.A. 78, 5406-5410.
30. Mehl, E. & Jatzkewitz, H. (1964) Eine Cerebrosidsulfatase aus Schweineniere. Hoppe-Seyler's Z. Physiol. Chem. 339, 260-276.
31. M2 activator protein: A substrate specific cofactor of β-hexosaminidase A. J. Biol. Chem. 266, 1879-1887.
32. Nagai, Y. & Iwamori, M. (1995) Cellular biology of gangliosides; in Biology of the Sialic Acids (Rosenberg, A., ed.) pp. 197-241, Plenum Press, New York.
33. Nakano, T., Sandhoff, K., Stumper, J., Christomanou, H. & Suzuki, K. (1989) Structure of fulllength cDNA coding for sulfatide activator, a co-beta-glucosidase and two other homologous proteins: Two alternate forms of the sulfatide activator. J. Biochem. 105, 152-154.
34. O'Brien, J.S., Kretz, K.A., Dewji, N., Wenger, D.A., Esch, F. & Fluharty, A.L. (1988) Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241, 1098-1101.
35. x. Science 250, 1130-1132.
36. Platt, F.M., Neises, G.R., Reinkensmeier, G., Townsend, M.J., Perry, V.H., Proia, R.L., Winchester, B., Dwek, R.A. & Butters, T.D. (1997) Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276, 428-431.
37. Sandhoff, K. & Kolter, T. (1996) Topology of glycosphingolipid degradation. Trends Cell Biol. 6, 98-103.
38. Sandhoff, K., Conzelmann, E., Neufeld, E., Kaback, M.M. & Suzuki, K. (1989) The GM2 gangliosidoses; in The Metabolic Basis of Inherited Disease (Scriver, C., Beaudet, A.L., Sly, W. S., Valle, D., eds.) pp. 1807-1839, McGraw-Hill.
39. Sandhoff, K., Harzer, K. & Fürst, W. (1995) Sphingolipid Activator Proteins; in The Metabolic and Molecular Basis of Inherited Disease (Scriver, C., Beaudet, A.L., Sly, W.S. & Valle, D., eds.) pp. 2427-2441, McGraw-Hill.
40. 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. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genetics 11, 170-176.
41. Sango, K., McDonald, M.P., Crawley, J.N., Mack, M.L., Tifft, C.J., Skop, E, Starr, C.M., Hoffmann, A., Sandhoff, K., Suzuki, K. & Proia, R.L, (1996) Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nature Genetics 14, 348-352.
42. M2-gangliosidosis AB variant. Am. J. Hum. Genet. 59, 1048-1056.
43. Schnabel, D., Schroder, M. & Sandhoff, K. (1991) Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett. 284, 57-59.
44. Schnabel, D., Schroder, M., Fürst, W., Klein, A., Hurwitz, R., Zenk, T., Weber, J., Harzer, K., Paton, B.C., Poulos, A., Suzuki, K. & Sandhoff, K. (1992) Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J. Biol. Chem. 267, 3312-3315.
45. M2-gangliosidosis variant AB. FEBS Lett. 290, 1-3.
46. M2 gangliosidosis AB variant: A novel mutation and expression in BHK cells. Hum. Genet. 92, 437-440.
47. Spiegel, S., Foster, D. & Kolesnick, R. (1996) Signal transduction through lipid second messengers. Curr. Opin. Cell Biol. 8, 159-167.
48. Taniike, M., Yamanaka, S., Proia, R.L., Langaman, C., Bonc-Turentine, T. & Suzuki, K. (1995) Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. Acta Neuropathol. 89, 296-304.
49. Vielhaber, G., Hurwitz, R. & Sandhoff, K. (1997) Biosynthesis, processing, and targeting of sphingolipid activator protein (SAP) precursor in cultured human fibroblasts. Mannose 6-phosphate receptor-independent endocytosis of SAP precursor. J. Biol. Chem. 272, 32438-32446.
50. X determinant on myeloid and tumor cells. Science 250, 1132-1135.
51. Wiegandt, H. (1985) Gangliosides; in New Comprehensive Biochemistry (Neuberger, V.A. & van Deenen, L.L.M., eds.) vol. 10, pp. 199-260, Elsevier, Amsterdam.
52. Yamanaka, S., Johnson, M.D., Grinberg, A., Westphal, H., Crawley, J.N., Taniike, M., Suzuki, K. & Proia, R.L. (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc. Natl. Acad. Sci. U.S.A. 91, 9975-9979.