Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage diseases

Acta Paediatrica, International Journal of Paediatrics

Volumn 95, Issue SUPPL. 451, 2006, Pages 93-99

  Gieselmann, Volkmar ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Cellular pathology; Enzyme replacement therapy; Lysosomal enzymes; Lysosomal storage diseases

Indexed keywords

ALPHA GLUCOSIDASE; ALPHA MANNOSIDASE; ARYLSULFATASE; BETA GLUCURONIDASE; LEVO IDURONIDASE; LYSOSOME ENZYME; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE; SOMATOMEDIN B RECEPTOR; SPHINGOMYELIN PHOSPHODIESTERASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; BRAIN; CONFERENCE PAPER; ENDOCYTOSIS; ENZYME DEFICIENCY; ENZYME PHOSPHORYLATION; ENZYME REPLACEMENT; EXTRACELLULAR MATRIX; GLYCOGEN STORAGE DISEASE TYPE 2; LYSOSOME STORAGE DISEASE; NONHUMAN; PRIORITY JOURNAL;

ANIMALS; ARYLSULFOTRANSFERASE; CHONDROCYTES; DISEASE MODELS, ANIMAL; ENDOCYTOSIS; ENZYMES; GLUCURONIDASE; GLYCOGEN STORAGE DISEASE TYPE II; GLYCOSYLATION; HUMANS; LYSOSOMAL STORAGE DISEASES; MACROPHAGES; MUSCLE, SKELETAL; PHOSPHORYLATION;

EID: 33646706363     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1080/08035320600619013     Document Type: Conference Paper

References (26)

1. Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet 2002;3:954-66.
2. Yaghootfam A, Schestag F, Dierks T, Gieselmann V. Recognition of arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-phosphotransferase. J Biol Chem 2003;278:32653-61.
3. Kornfeld S, Mellman I. The biogenesis of lysosomes. Annu Rev Cell Biol 1989;5:483-525.
4. Pontow SE, Kery V, Stahl PD. Mannose receptor. Int Rev Cytol 1992;137B:221-44.
5. Ashwell G, Harford J. Carbohydrate-specific receptors of the liver. Annu Rev Biochem 1982;51:531-54.
6. Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001;68:14-25.
7. Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, et al. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J 2000;14:1988-95.
8. Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 1996;97:1864-73
9. Sands MS, Vogler CA, Ohlemiller KK, Roberts MS, Grubb JH, Levy B, 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;276:43160-5.
10. Neufeld EF, Muenzer J. The mucopolysaccharidoses. Metab Molec Bas Inherit Dis 2001: 3421-52.
11. Roces DP, Lullmann-Rauch R, Peng J, Balducci C, Andersson C, Tollersrud O, et al. Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. Hum Mol Genet 2004;13:1979-88.
12. Bielicki J, Crawley AC, Davey RC, Varnai JC, Hopwood JJ. Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI. J Biol Chem 1999;274:36335-43.
13. Bijvoet AG, Van Hirtum H, Kroos MA, Van de Kamp EH, Schoneveld O, Visser P, et al. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999;8:2145-53.
14. Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005;11:48-56.
15. Zhu Y, Li X, Kyazike J, Zhou Q, Thurberg BL, Raben N, et al. Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice. J Biol Chem 2004;279:50336-41.
16. Dhami R, Schuchman EH. Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J Biol Chem 2004;279:1526-32.
17. Dunder U, Kaartinen V, Valtonen P, Vaananen E, Kosma VM, Heisterkamp N, et al. Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB J 2000;14:361-7.
18. 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. J Clin Invest 1997;99:651-62.
19. Sands MS, Vogler C, Kyle JW, Grubb JH, Levy B, Galvin N, et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 1994;93:2324-31.
20. Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA 1994;91:12937-41.
21. Sands MS, Vogler C, Torrey A, Levy B, Gwynn B, Grubb J 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;99:1596-605.
22. Byers S, Crawley AC, Brumfield LK, Nuttall JD, Hopwood JJ. Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatr Res 2000;47:743-9.
23. Matzner U, Herbst E, Hedayati KK, Lullmann-Rauch R, Wessig C, Schroder S, et al. Enzyme replacement therapy improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 2005;14:1139-52.
24. O'Connor LH, Erway LC, Vogler CA, Sly WS, Nicholes A, Grubb J, et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function. J Clin Invest 1998;101:1394-400.
25. Gliddon BL, Hopwood JJ. Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice. Pediatr Res 2004;56:65-72.
26. Vogler C, Levy B, Galvin NJ, Thorpe C, Sands MS, Barker JE, et al. Enzyme replacement in murine mucopolysaccharidosis type VII: neuronal and glial response to beta-glucuronidase requires early initiation of enzyme replacement therapy. Pediatr Res 1999;45:838-44.