151
Views
52
CrossRef citations to date
0
Altmetric
Miscellaneous

Enzyme replacement therapy for the mucopolysaccharide storage disorders

Pages 675-685 | Published online: 24 Feb 2005

Bibliography

  • DE DUVE C: From cytases to lysosomes. Fed. Proc. (1964) 23:1045–1049.
  • •Classic review on the discovery of lysosomes.
  • HERS HG: Inborn lysosomal diseases. Frog. Gastroent. (1965) 48:625–633.
  • •First discussion on ERT for lysosomal storage disorders.
  • FRANTANTONI JC, HALL CW, NEUFELD EF: The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide. Proc. Natl. Acad. Sci. USA (1968) 60:699–706.
  • BARTON NW, BRADY RO, DAMBROSIA JM et al: Replacement therapy for inherited enzyme deficiency- Macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl. J. Med. (1991) 324:1464–1470.
  • ••First successful clinical trial of ERT inGaucher disease.
  • NEUFELD EF, MUENZER J: The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease Scriver C et al. (Eds). McGraw-Hill, NY, USA (2001) p3421–3452.
  • •The key comprehensive review of the MPS disorders.
  • KAKKIS ED, MEUNZER J, TILLER Get al.: Enzyme replacement therapy in mucopolysaccharidosis I. N Engl. J Med. (2001) 344:182–188.
  • ••First paper on successful enzyme therapy inhuman MPS I patients.
  • RUOSLAHTI E: Structure and biology of proteoglycans. Ann. Rev Cell Biol. (1988) 4:229–255.
  • DIFERRANTE N, NICHOLS BL, DONNELLY PV, NERI G, HRGOVCIC R, BERGLUND RK: Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndrome by plasma infusion. Proc. Nati Acad. Sci. USA (1971) 68:303–
  • KAPLAN A, ACHORD DT, SLY WS: Phosphohexosyl components of a lysosomal enzyme are recognized by pinocytosis receptors on human fibroblasts. Proc. Natl. Acad. Sci. USA (1977) 74:2026–2030.
  • •Discovery of the mannose 6-phosphate marker for lysosomal enzyme uptake.
  • SANDO GN, NEUFELD EF: Recognition and receptor-mediated uptake of a lysosomal enzyme, a-L-iduronidase, by cultured human fibroblasts. Cell (1977) 12:619–627.
  • •Comprehensive study of iduronidase uptake via the marmose 6-phosphate receptor.
  • KAKKIS ED, MATYNIA A, JONAS AJ, NEUFELD EF: Overexpression of the human lysosomal enzyme a-L-iduronidase in Chinese hamster ovary cells. Protein Expc Puril (1994) 5:225–232.
  • BIELICKI J, HOP WOOD JJ, WILSON PJ, ANSON DS: Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme. Biochem. J. (1993) 289:241–246.
  • ANSON DS, TAYLOR JA, BIELICKI Jet al.: Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase. Biochem. (1992) 284:789–794.
  • GRUBB JH, KYLE JW, CODY LB, SLY WS: Large scale purification of phosphorylated recombinant human 13-glucuronidase from overexpressing mouse L cells. FASEB J. (1993) 7:A1255 (abstract).
  • ZHAO KW, NEUFELD EF: Purification and characterization of recombinant human alpha-N- acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein Expc Puril (2000) 19:202–211.
  • SANDS MS, VOGLER CA, OHLEMILLER KK et al.: Biodistribution, kinetics, and efficacy of highly phosphorylated and non-phosphorylated beta-glucuronidase in the murine model of mucopolysaccharidosis VII. J. Biol. Chem. (2001) 276:43160–43165.
  • •Demonstration of the importance of marmose 6-phosphate in lysosomal enzyme uptake and efficacy.
  • SPELLACY E, SHULL RM, COSTANTOPOULOS G, NEUFELD EF: A canine model of human a-L-iduronidase deficiency. Proc. Natl. Acad. Sci. USA (1983) 80:6091–6095.
  • MENON KP, TIEU PT, NEUFELD EF: Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis Type I. Genomics (1992) 14:763–768.
  • SHULL RM, KAKKIS ED, MCENTEE MF, KANIA SA, JONAS AJ, NEUFELD EF: Enzyme replacement in canine model of Hurler syndrome. Proc. Nati Acad. Sci. USA (1994) 91:12937–12941.
  • KAKKIS ED, MCENTEE ME SCHMIDTCHEN A et al.: Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem. Ma Med. (1996) 58:156–167.
  • KAKKIS ED, SCHUCHMAN E, HE X et al.: Enzyme replacement therapy in feline mucopolysaccharidosis I. Ma Genet. Metab. (2001) 72:199–208.
  • CRAWLEY AC, BROOKS DA, MULLER VJ et al.: Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J. Clio. Invest. (1996) 97:1864–1873.
  • CRAWLEY AC, NIEDZIELSKI KH, ISAAC EL, DAVEY RC, BYERS S, HOPWOOD JJ: Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis Type VI. I. Clio. Invest (1997) 99:651–662.
  • BROOKS D, KING BM, CRAWLEY AC, BYERS S, HOP WOOD JJ: Enzyme replacement therapy in mucopolysaccharidosis VI: Evidence for immune responses and altered efficacy of treatment in animal models. Biochim. Biophys. Acta (1997) 1361:203–216.
  • BIELICKI J, CRAWLEY AC, DAVEY RC, VARNAI JC, HOP WOOD JJ: Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis Type VI. J. Biol. Chem. (1999) 274:36335–36343.
  • BYERS S, NUTTALL JD, CRAWLEY AC, HOP WOOD JJ, SMITH K, FAZZALARI NL: Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis Type VI. Bone (1997) 21:425–431.
  • SANDS M, VOGLER C, KYLE J et al.: Enzyme replacement therapy for murine mucopolysaccharidosis Type VII. J. Clio. Invest. (1994) 93:2324–2331.
  • VOGLER C, LEVY B, GALVIN NJ et al.: Enzyme replacement in murine mucopolysaccharidosis Type VII: neuronal and glial response to beta-glucuronidase requires early initiation of enzyme replacement therapy. Pediam Res. (1999) 45:838–844.
  • VOGLER C, SANDS MS, LEVY B, GALVIN N, BIRKENMEIER EH, SLY WS: Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis Type VII: impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival. Pediam Res. (1996) 39:1050–1054.
  • VOGLER C, SANDS MS, GALVIN N et al.: Murine mucopolysaccharidosis Type VII: the impact of therapies on the clinical course 684 and pathology in a murine model of lysosomal storage disease. J. Inherit. Metab. Dis. (1998) 21:575–586.
  • SANDS MS, VOGLER C, TORREY A et al.: Murine mucopolysaccharidosis Type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J. Clin. Invest. (1997) 99:1596–1605.
  • HARMATZ P, WHITLEY C, BELANI K et al.: A Phase I/II randomized double-blind two dose group study of recombinant human n-acetylgalactosamine-4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy Syndrome). Am. I Hum. Genet. (2001) 69:674–674.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.