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Review

Substrate reduction therapy for glycosphingolipid storage disorders

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Pages 455-466 | Published online: 24 Feb 2005

Bibliography

  • BARTON NW, BRADY RO, DAMBROSIA JM et al.: Replace- ment therapy for inherited enzyme deficiency-macr oph age-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. (1991) 324:1464–1470.
  • ••First use of ERT to treat an inherited disease.
  • COX TM: Therapeutic advances in Gaucher's disease: a model for the treatment of lysosomal storage diseases. Trend. Exp. Clin. Med. (1994) 4:144–160.
  • GRABOWSKI GA, BARTON NW, PASTORES G et al.: Enzyme therapy in Type 1 Gaucher disease: compara-tive efficacy of mannose-terminated glucocerebrosi-dase from natural and recombinant sources. Ann. Intern. Med. (1995) 122:33–39.
  • BEUTLER E: Enzyme replacement therapy for Gaucher's disease. Baillieres Clin. Haematol. (1997) 1 0:751–763.
  • •Good review of efficacy data for ERT in Gaucher's disease.
  • BEUTLER E, GRABOWSKI GA: Gaucher's disease. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (Eds.) McGraw-Hill New York, USA (1995):2641–2670.
  • •Comprehensive review of Gaucher's disease.
  • COX TM, SCHOFIELD JP: Gaucher's disease: clinical features and natural history. Baillieres Clin. Haematol. (1997) 10:657–689.
  • ERIKSON A, BEMBI B, SCHIFFMANN R: Neuronopathic forms of Gaucher's disease. Baillieres Clin. Haematol. (1997) 10:711–723.
  • ERIKSON A, GROTH CG, MANSSON JE, PERCY A, RINGDEN 0, SVENNERHOLM L: Clinical and biochemical outcome of marrow transplantation for Gaucher's disease of the Norrbottnian type. Acta Paediatr. Scand. (1990) 79:680–685.
  • RINGDEN 0, GROTH CG, ERIKSON A, GRANQVIST S, MANSSON JE, SPARRELID E: Ten years' experience of bone marrow transplantation for Gaucher's disease. Transplantation (1995) 59:864–870.
  • SALVETTI A, HEARD JM, DANOS 0: Gene therapy of lysosomal storage disorders. Br. Med. Bul. (1995) 51:106–122.
  • SVENDSEN CN, CALDWELL MA, OSTENFELD T: Human neural stem cells: isolation, expansion and transplan-tation. Brain Pathol. (1999) 9:499–513.
  • VESCOVI AL, SNYDER EY: Establishment and properties of neural stem cell clones: plasticity in vitro and in vivo. Brain Pathol. (1999) 9:569–598.
  • PLATT FM, BUTTERS TD: New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem. Pharmacol. (1998) 56:421–430.
  • RADIN NS: Treatment of Gaucher disease with anenzyme inhibitor. Glycoconj J. (1996) 13:153–157.
  • INOKUCHI J, RADIN NS: Preparation of the active isomer of 1-pheny1-2-decanoylamino-3-morpholino-1-propanol, inhibitor of murine glucocerebroside synthetase. J. Lipid Res. (1987) 28:565–571.
  • ••Description and characterisation of first class of glycolipidbiosynthesis inhibitors.
  • LEE L, ABE A, SHAYMAN JA: Improved inhibitors of glucosylceramide synthase. J. Biol. Chem. (1999) 274:14662–14669.
  • ABE A, GREGORY S, LEE L et al.: Reduction of globotriao-sylcer amide in Fabry disease mice by substrate deprivation. J. Clin. Invest. (2000) 105:1563–1571.
  • BUTTERS TD, DWEK RA, PLATT FM: The inhibition of the biosynthesis of glycosphingolipids: application to lysosomal storage disorders. Chem. Rev. (2000) 100:4683–4696.
  • •Review of imino-sugar glycolipid biosynthesis inhibitors.
  • PLATT FM, BUTTERS TD: Inhibitors of glycosphin-golipid biosynthesis. Trends in Glycosc. Glycotechnol. (1995) 7:495–511.
  • PLATT FM, NEISES GR, DWEK RA, BUTTERS TD: N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem. (1994) 269:8362–8365.
  • ••First description of M3-DNJ as an inhibitor of glycolipidbiosynthesis.
  • PLATT FM, KARLSSON GB, JACOB GS: Modulation of cell-surface transferrin receptor by the imino sugar N-butyldeoxynojirimycin. Eur. J. Biochem. (1992) 208:187–193.
  • PETRESCU SM, PETRESCU AJ, TITU HN, DWEK RA, PLATT FM: Inhibition of N-glycan processing in B16 melanoma cells results in inactivation of tyrosinase but does not prevent its transport to the melanosome. J. Biol. Chem. (1997) 272:15796–15803.
  • PETRESCU SM, BRANZA-NICHITA N, NEGROIU G, PETRESCU AJ, DWEK RA: Tyrosinase and glycoprotein folding: roles of chaperones that recognize glycans. Biochemistry (2000) 39:5229–5237.
  • FISCHER PB, COLLIN M, KARLSSON GB et al.: The alpha-glucosidase inhibitor N-butyldeoxynojirimycin inhibits human immunodeficiency virus entry at the level of post-CD4 binding. J Viral. (1995) 69:5791–5797.
  • FISCHER PB, KARLSSON GB, BUTTERS TD, DWEK RA, PLATT FM: N-butyldeoxynojirimycin-mediated inhibi-tion of human immunodeficiency virus entry correlates with changes in antibody recognition of the V1 /V2 region of gp120. J. Viral. (1996) 70:7143–7152.
  • BLOCK TM, LU X, PLATT FM et al.: Secretion of human hepatitis B virus is inhibited by the imino sugar N-butyldeoxynojirimycin. Proc. Nail. Acad. Sci. USA (1994) 91:2235–2239.
  • ZITZMAN N, MEHTA AS, CARROUEE S et al.: Imino sugars inhibit the formation and secretion of bovine diarrhea virus, a pestivirus model of hepatitis C virus: implica-tions for the development of broad spectrum anti-hepatitis virus agents. Proc. Natl. Acad. Sci. USA (1999) 96:11878–11882.
  • FISCHL MA, RESNICK L, COOMBS R et al.: The safety and efficacy of combination N-butyl-deoxynojirimycin (Sc- 48334) and zidovudine in patients with HIV-1 infection and 200-500 CD4 cells/mm3. J. Acquir. Immune Defic. Syndr. (1994) 7:139–147.
  • •Clinical use of /VE3-DNJ in AIDS patients.
  • WINCHESTER B, FLEET GW: Amino-sugar glycosidase inhibitors: versatile tools for glycobiologists. Glycobiology (1992) 2:199–210.
  • KARLSSON GB, BUTTERS TD, DWEK RA, PLATT FM: Effects of the imino sugar N-butyldeoxynojirimycin on the N-glycosylation of recombinant gp120. J. Biol. Chem. (1993) 268:570–576.
  • BUTTERS TD, VAN DEN BROEK LAGM, FLEET GWJ et al.:Molecular requirements of imino sugars for the selective control of N-linked glycosylation and glycosphingolipid biosynthesis. Tetrahedron: Asymmetry (2000) 11:113–124.
  • PLATT FM, NEISES GR, KARLSSON GB, DWEK RA,BUTTERS TD:N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J. Biol. Chem. (1994) 269:27108–27114.
  • PLATT FM, BUTTERS TD: Substrate deprivation: A newtherapeutic approach for the glycosphingolipid lysosomal storage diseases. Exp. Rev. Mol. Med. (2000) vol: 2000 http://www-ermm.cbcu.cam.ac.uk.
  • SUZUKI K, PROIA RL: Mouse models of humanlysosomal diseases. Brain Pathol. (1998) 8:195–215.
  • •Review of mouse models of glycolipid storage diseases.
  • Platt FM, REINKENSMEIER G, DWEK RA, BUTTERS TD:Extensive glycosphingolipid depletion in the liver and lymphoid organs of mice treated with N-butyldeoxyn-ojirimycin. J. Biol. Chem. (1997) 272:19365–19372.
  • YAMANAKA S, JOHNSON MD, GRINBERG A et al.: Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc. Nail. Acad. Sci. USA (1994) 91:9975–9979.
  • TANIIKE M, YAMANAKA S, PROIA RL, LANGAMAN C, BONE-TURRENTINE T, SUZUKI K: Neuropathology of mice with targeted disruption of Hex a gene, a model of Tay-Sachs disease. Acta Neuropathol. Ben. (1995) 89:296–304.
  • SANGO K, YAMANAKA S, HOFFMANN A et al.: Mousemodels of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genet. (1995) 11:170–176.
  • PLATT FM, NEISES GR, REINKENSMEIER G et al.: Preven-tion of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science (1997) 276:428–431.
  • ••Demonstration that /VE3-DNJ can prevent glycolipid storagein the CNS.
  • JEYAKUMAR M, BUTTERS TD, CORTINA-BORJA M et al.:Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxyn-ojirimycin. Proc. Nati Acad. Sci. USA (1999) 96:6388-6393. Demonstration of therapeutic efficacy of /VB-DNJ in a mouse model of GSL storage disease with CNS involvement.
  • NORFLUS F, TIFFT CJ, MCDONALD MP et al.: Bonemarrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice. J. Clin. Invest. (1998) 101:1881–1888.
  • JEYAKUMAR M, NORFLUS F, TIFFT CJ et al.: Enhancedsurvival in Sandhoff disease mice receiving a combina-tion of substrate deprivation therapy and bone marrow transplantation. Blood (2001) 97:327–329.
  • COX T, LACHMANN R, HOLLAK C et al.: Novel oral treatment of Gaucher's disease with N-butyldeoxyn-ojirimycin (OGT 918) to decrease substrate biosyn-thesis. Lancet (2000) 355:1481–1485.
  • ••Clinical trial demonstrating therapeutic efficacy of /VB-DNJin Type 1 Gaucher's disease.
  • LACHMANN RH, COX TM, HOLLACK C et al.: Substratebalance with N-butyl-deoxynojirimycin (OGT-918): adverse effects observed in clinical trials of OGT-918. Fourth Meeting of the European Working Group on Gaucher's Disease, Jerusalem, Israel (2000).
  • PASTORES GM, SIBILLE AR, GRABOWSKI GA: Enzyme therapy in Gaucher disease Type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood (1993) 82:408–416.
  • ZIMRAN A, ELSTEIN D, KANNAI R et al.: Low-doseenzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype and clinical features on response to treatment. Am. J Med. (1994) 97:3–13.
  • BEUTLER E, DEMINA A, LAUBSCHER K et al.: The clinicalcourse of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mal. Dis. (1995) 21:86–108.
  • HOLLAK CE, AERTS JM, GOUDSMIT Ret al.: Individual-ised low-dose alglucerase therapy for Type 1 Gaucher's disease. Lancet (1995) 345:1474–1478.
  • ZIMRAN A, ELSTEIN D, LEVY-LAHAD E et al.: Replace-ment therapy with imiglucerase for Type 1 Gaucher's disease. Lancet (1995) 345:1479–1480.
  • MISTRY PK: Treatment of Gaucher's disease with OGT918. Lancet (2000) 356:676–677.
  • HOLLAK CE, VAN WEELY S, VAN OERS MH, AERTS JM:Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin. Invest. (1994) 93:1288–1292.
  • YOUNG E, CHATTERTON C, VELLODI A, WINCHESTER B:Plasma chitotriosidase activity in Gaucher's disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. j Inherit. Metab. Dis. (1997) 20:595–602.
  • BARRANGER JA: Risks of Gaucher's treatment. Lancet(2000) 356:1353–1354.
  • TAKAMIYA K, YAMAMOTO A, FURUKAWA K et al.: Micewith disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. Proc. Nat. Acad. Sci. USA (1996) 93:10662–10667.
  • SHEIKH KA, SUN J, LIU Y, KAWAI H et al.: Mice lackingcomplex gangliosides develop Wallerian degeneration and myelination defects. Proc. Nat. Acad. Sci. USA (1999) 96:7532–7537.
  • QUARLES RH, WEISS MD: Autoantibodies associatedwith peripheral neuropathy. Muscle Nerve (1999) 22:800–822.
  • SCHNAAR RL, COLLINS BE, WRIGHT LP et al.: Myelin-associated glycoprotein binding to gangliosides. Structural specificity and functional implications. Ann. NY Acad. Sci. (1998) 845:92–105.
  • ANDERSSON U, BUTTERS TD, DWEK RA, PLATT FM: N-butyldeoxygalactonojirimycin; a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochern. Pharrnacol. (2000) 59:821–829.
  • •Characterisation of a more selective imino-sugar inhibitor of GSL biosynthesis.
  • ELSTEIN D, ABRAHAMOV A, HADAS-HALPERN I, ZIMRAN A: Withdrawal of enzyme replacement therapy in Gaucher's disease. Br. J. Haematol. (2000) 110:488–492.

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