Substrate reduction therapy

Lysosomal Storage Disorders

Volumn , Issue , 2007, Pages 153-168

  Platt, Frances M ^a   Butters, Terry D ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79956225016     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-387-70909-3_11     Document Type: Chapter

References (71)

1. Aerts, J. M., & Hollak, C. E. (1997). Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol, 10(4), 691-709.
2. Andersson, U., Butters, T. D., Dwek, R. A., & Platt, F. M. (2000). N-butyldeoxygalac-tonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochem Pharmacol, 59(7), 821-829.
3. Andersson, U., Reinkensmeier, G., Butters, T. D., Dwek, R. A., & Platt, F. M. (2004). Inhibition of glycogen breakdown by imino sugars in vitro and in vivo. Biochem Pharmacol, 67(4), 697-705.
4. Andersson, U., Smith, D., Jeyakumar, M., Butters, T. D., Borja, M. C., Dwek, R. A., et al. (2004). Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. Neurobiol Dis, 16(3), 506-515.
5. Beck, M. (2001). Variable clinical presentation in lysosomal storage disorders. J Inherit Metab Dis, 24 Suppl 2, 47-51; discussion 45-46.
6. Beutler, E., & Grabowski, G. (2001). Gaucher disease. In C. R. Scriver, A. L. Beadet, D. Valle & W. S. Sly (Eds.), The metabolic and molecular bases of inherited diseases (8 ed., Vol. 3, pp. 3636-3668). New York: McGraw Hill.
7. Block, T. M., Lu, X. Y., Mehta, A. S., Blumberg, B. S., Tennant, B., Ebling, M., et al. (1998). Treatment of chronic hepadnavirus infection in a woodchuck animal model with an inhibitor of protein folding and trafficking. Nature Med, 4(5), 610-614.
8. Brady, R. O. (2003). Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies. Acta Paediatr Suppl, 92(443), 19-24.
9. Butters, T. D., Dwek, R. A., & Platt, F. M. (2000). Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders. Chem Rev, 100, 4683-4696.
10. Butters, T. D., Dwek, R. A., & Platt, F. M. (2003). Therapeutic applications of imino sugars in lysosomal storage disorders. Curr Top Med Chem, 3(5), 561-574.
11. Butters, T. D., Mellor, H. R., Narita, K., Dwek, R. A., & Platt, F. M. (2003). Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Philos Trans R Soc Lond B Biol Sci, 358(1433), 927-945.
12. Butters, T. D., van den Broek, L. A. G. M., Fleet, G. W. J., Krulle, T. M., Wormald, M. R., Dwek, R. A., et al. (2000). Molecular requirements of imino sugars for the selective control of N-linked glycosylation and glycospingolipid biosynthesis. Tetrahedron Assymetry, 11, 113-124.
13. Cabrera-Salazar, M. A., Novelli, E., & Barranger, J. A. (2002). Gene therapy for the lysosomal storage disorders. Curr Opin Mol Ther, 4(4), 349-358.
14. Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., et al. (1997). Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeo-stasis. Science, 277(5323), 228-231.
15. Cox, T., Lachmann, R., Hollak, C., Aerts, J., van Weely, S., Hrebicek, M., et al. (2000). Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet, 355(9214), 1481-1485.
16. Cox, T. M., Aerts, J. M., Andria, G., Beck, M., Belmatoug, N., Bembi, B., et al. (2003). The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis, 26(6), 513-526.
17. Dobrenis, K. (2004). Cell-mediated delivery systems. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal Disorders of the Brain (pp. 339-380). Oxford: Oxford University Press.
18. Durantel, D., Branza-Nichita, N., Carrouee-Durantel, S., Butters, T. D., Dwek, R. A., & Zitzmann, N. (2001). Study of the Mechanism of Antiviral Action of Iminosugar Derivatives against Bovine Viral Diarrhea Virus. J Virol, 75(19), 8987-8998.
19. Dwek, R. A., Butters, T. D., Platt, F. M., & Zitzmann, N. (2002). Targetting glycosyla-tion as a therapeutic approach. Nature drug discovery, 1(1), 65-75.
20. Elstein, D., Hollak, C., Aerts, J. M., Van Weely, S., Maas, M., Cox, T. M., et al. (2004). Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT-918) in type 1 Gaucher disease. J Inherit Metab Dis, In Press.
21. Fischer, P. B., Collin, M., Karlsson, G. B., James, W., Butters, T. D., Davis, S. J., et al. (1995). The alpha-glucosidase inhibitor N-butyldeoxynojirimycin inhibits human immunodeficiency virus entry at the level of post-CD4 binding. J Virol, 69(9), 5791-5797.
22. Ginzburg, L., Kacher, Y., & Futerman, A. H. (2004). The pathogenesis of glycosphingo-lipid storage disorders. Semin Cell Dev Biol, 15(4), 417-431.
23. Heitner, R., Elstein, D., Aerts, J., Weely, S., & Zimran, A. (2002). Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis, 28(2), 127-133.
24. Hopwood, J. J., Crawley, A. C., & Taylor, R. M. (2004). Spontaneous and engineered mammalian storage disease models. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal disorders of the brain (Vol. 1, pp. 257-289). Oxford: Oxford University Press.
25. Ikonen, E., & Holtta-Vuori, M. (2004). Cellular pathology of Niemann-Pick type C disease. Semin Cell Dev Biol, 15(4), 445-454.
26. Jeyakumar, M., Butters, T. D., Cortina-Borja, M., Hunnam, V., Proia, R. L., Perry, V. H., et al. (1999). Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc Natl Acad Sci U S A, 96(11), 6388-6393.
27. Jeyakumar, M., Smith, D. A., Williams, I. M., Borja, M. C., Neville, D. C., Butters, T. D., et al. (2004). NSAIDs increase survival in the Sandhoff disease mouse: Synergy with N-butyldeoxynojirimycin. Ann Neurol, 56(5), 642-649.
28. Jeyakumar, M., Thomas, R., Elliot-Smith, E., Smith, D. A., van der Spoel, A. C., d'Azzo, A., et al. (2003). Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain, 126(Pt 4), 974-987.
29. Ko, D. C., Binkley, J., Sidow, A., & Scott, M. P. (2003). The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. Proc Natl Acad Sci U S A, 100(5), 2518-2525.
30. Krivit, W. (2002). Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr, 49, 359-378.
31. Krivit, W., Sung, J. H., Shapiro, E. G., & Lockman, L. A. (1995). Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell-Transplant, 4(4), 385-392.
32. Lachmann, R. H. (2003). Miglustat. Oxford GlycoSciences/Actelion. Curr Opin Investig Drugs, 4(4), 472-479.
33. Lachmann, R. H., & Platt, F. M. (2001). Substrate reduction therapy for glycos-phingolipid storage disorders. Exp. Opin. Invest. Drugs, 10, 455-466.
34. Lachmann, R. H., te Vruchte, D., Lloyd-Evans, E., Reinkensmeier, G., Sillence, D. J., Fernandez-Guillen, L., et al. (2004). Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis, 16(3), 654-658.
35. Liscum, L. (2000). Niemann-Pick type C mutations cause lipid traffic jam. Traffic, 1(3), 218-225.
36. Mayran, N., Parton, R. G., & Gruenberg, J. (2003). Annexin II regulates multivesicular endosome biogenesis in the degradation pathway of animal cells. Embo J, 22(13), 3242-3253.
37. Mellor, H. R., Neville, D. C., Harvey, D. J., Platt, F. M., Dwek, R. A., & Butters, T. D. (2004). Cellular effects of deoxynojirimycin analogues: uptake, retention and inhibition of glycosphingolipid biosynthesis. Biochem J, 381(Pt 3), 861-866.
38. Mellor, H. R., Nolan, J., Pickering, L., Wormald, M. R., Platt, F. M., Dwek, R. A., et al. (2002). Preparation, biochemical characterization and biological properties of radio-labelled N-alkylated deoxynojirimycins. Biochem J, 366(Pt 1), 225-233.
39. Mellor, H. R., Platt, F. M., Dwek, R. A., & Butters, T. D. (2003). Membrane disruption and cytotoxicity of hydrophobic N-alkylated imino sugars is independent of the inhibition of protein and lipid glycosylation. Biochem J, 374(Pt 2), 307-314.
40. Moyses, C. (2003). Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. Philos Trans R Soc Lond B Biol Sci, 358(1433), 955-960.
41. Neufeld, E. F. (2004). Enzyme replacement therapy. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal disorders of the brain (pp. 327-338). Oxford: Oxford University Press.
42. Ohgami, N., Ko, D. C., Thomas, M., Scott, M. P., Chang, C. C., & Chang, T. Y. (2004). Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Proc Natl Acad Sci U S A, 101(34), 12473-12478.
43. Pastores, G. M., Barnett, N. L., Bathan, P., & Kolodny, E. H. (2003). A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis, 26(7), 641-645.
44. Patterson, M. C., Vecchio, D., Prady, H., Abel, L., Ait-Alissa, N., & Wraith, J. E. (2006). Oral miglustat in Niemann-Pick type C (NPC) disease. Rev Neurol (separata) 43, 8.
45. Platt, F. M., & Butters, T. D. (2004). Inhibition of substrate synthesis: a pharmacological approach for glycosphingolipid storage disease therapy. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal Disorders of the Brain (pp. 381-408). Oxford: Oxford University Press.
46. Platt, F. M., Jeyakumar, M., Andersson, U., Heare, T., Dwek, R. A., & Butters, T. D. (2003). Substrate reduction therapy in mouse models of the glycosphingolipidoses. Phil. Trans. R. Soc. Lond. B, 358, 947-954.
47. Platt, F. M., Neises, G. R., Dwek, R. A., & Butters, T. D. (1994). N-butyldeoxy-nojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem, 269(11), 8362-8365.
48. Platt, F. M., Neises, G. R., Karlsson, G. B., Dwek, R. A., & Butters, T. D. (1994a). N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem, 269(43), 27108-27114.
49. Platt, F. M., Neises, G. R., Reinkensmeier, G., Townsend, M. J., Perry, V. H., Proia, R. L., et al. (1997). Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science, 276(5311), 428-431.
50. Puri, V., Watanabe, R., Dominguez, M., Sun, X., Wheatley, C. L., Marks, D. L., et al. (1999). Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases. Nat Cell Biol, 1(6), 386-388.
51. Radin, N. S. (1996). Treatment of Gaucher disease with an enzyme inhibitor. Glycoconj J, 13(2), 153-157.
52. Rapola, J. (1994). Lysosomal storage diseases in adults. Pathol Res Pract, 190(8), 759-766.
53. Ringden, O., Groth, C. G., Erikson, A., Granqvist, S., Mansson, J. E., & Sparrelid, E. (1995). Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation, 59(6), 864-870.
54. Sands, M. S. (2004). Gene therapy. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal Disorders of the Brain (pp. 409-430). Oxford: Oxford University Press.
55. Sango, K., Yamanaka, S., Hoffmann, A., Okuda, Y., Grinberg, A., Westphal, H., et al. (1995). Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic pheno-type and ganglioside metabolism. Nat Genet, 11(2), 170-176.
56. Sleat, D. E., Wiseman, J. A., El-Banna, M., Price, S. M., Verot, L., Shen, M. M., et al. (2004). Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A, 101(16), 5886-5891.
57. Snyder, E. Y., Daley, G. Q., & Goodell, M. (2004). Taking stock and planning for the next decade: realistic prospects for stem cell therapies for the nervous system. J Neurosci Res, 76(2), 157-168.
58. te Vruchte, D., Lloyd-Evans, E., Veldman, R. J., Neville, D. C., Dwek, R. A., Platt, F. M., et al. (2004). Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem, 279(25), 26167-26175.
59. van der Spoel, A. C., Jeyakumar, M., Butters, T. D., Charleton, H. M., Moore, H. D., Dwek, R. A., et al. (2002). Reversible infertility in male mice following oral administration of alkylated imino sugars: a non-hormonal approach to male contraception. Proc. Natl. Acad. Sci. U. S. A., In Press.
60. Vanier, M. T., & Millat, G. (2003). Niemann-Pick disease type C. Clin Genet, 64(4), 269-281.
61. Vunnam, R. R., & Radin, N. S. (1980). Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain. Chem-Phys-Lipids, 26(3), 265-278 issn: 0009-3084.
62. Wada, R., Tifft, C. J., & Proia, R. L. (2000). Microglial activation precedes acute neurodegeneration in Sandhoff disease and is supressed by bone marrow transplant-tation. Proc Natl Acad Sci USA, 97(20), 10954-10959.
63. Walkley, S. U. (2004). Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol, 15(4), 433-444.
64. Winchester, B. (2004). Primary defects in lysosomal enzymes. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal Disorders of the Brain (pp. 81-130). Oxford: Oxford University Press.
65. Wraith, J. E. (2002). Lysosomal disorders. Semin Neonatol, 7(1), 75-83.
66. Wraith, J. E. (2004). Clinical aspects and diagnosis. In F. M. Platt & S. U. Walkley (Eds.), Lysosomal disorders of the brain (pp. 50-77). Oxford: Oxford University Press.
67. Wu, Y. P., & Proia, R. L. (2004). Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci U S A, 101(22), 8425-8430.
68. Yamanaka, S., Johnson, M. D., Grinberg, A., Westphal, H., Crawley, J. N., Taniike, M., et al. (1994). Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci USA, 91(21), 9975-9979.
69. Zervas, M., Somers, K. L., Thrall, M. A., & Walkley, S. U. (2001). Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol, 11(16), 1283-1287.
70. Zimran, A., & Elstein, D. (2003). Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci, 358(1433), 961-966.
71. Zitzmann, N., Mehta, A. S., Carrouee, S., Butters, T. D., Platt, F. M., McCauley, J., et al. (1999). Imino sugars inhibit the formation and secretion of bovine viral diarrhea virus, a pestivirus model of hepatitis C virus: implications for the development of broad spectrum anti-hepatitis virus agents. Proc Natl Acad Sci U S A, 96(21), 11878-11882.