Mucopolysaccharidosis type III (sanfilippo syndrome): Emerging treatment strategies

Current Pharmaceutical Biotechnology

Volumn 12, Issue 6, 2011, Pages 923-930

  de Ruijter, J ^a   Valstar, M J ^a   Wijburg, F A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Enzyme replacement therapy; Gene therapy; Hematopoietic stem cell transplantation; Mucopolysaccharidosis iii; Sanfilippo syndrome; Substrate reduction therapy

Indexed keywords

2 ACETAMIDO 1,2 DIDEOXYNOJIRIMYCIN; 6 ACETAMIDO 6 DEOXYCASTANOSPERMINE; ADENOVIRUS VECTOR; BENZODIAZEPINE DERIVATIVE; EPIDERMAL GROWTH FACTOR; GENISTEIN; GLYCOSAMINOGLYCAN; GLYCOSAMINOGLYCAN HEPARAN SULFATE; HEPARAN SULFATE; ISOFLAVONE; LYSOSOME ENZYME; MANNOSE; MELATONIN; RECOMBINANT ENZYME; RECOMBINANT LYSOSOMAL HYDROLASE; RISPERIDONE; SOMATOMEDIN B RECEPTOR; SULFAMIDASE; SULFATASE; UNCLASSIFIED DRUG;

ADRENOLEUKODYSTROPHY; ANGER; ARTICLE; BEHAVIOR DISORDER; BLOOD BRAIN BARRIER; BRAIN BLOOD VESSEL; CARBOHYDRATE SYNTHESIS; CATALYSIS; CEREBROSPINAL FLUID; CHAPERONE MEDIATED THERAPY; CLINICAL FEATURE; CLINICAL TRIAL; DEMENTIA; DISEASE COURSE; DNA MODIFICATION; DRUG EFFICACY; DRUG MEGADOSE; EARLY DIAGNOSIS; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME DEGRADATION; ENZYME REPLACEMENT; GENE THERAPY; GENETIC ENGINEERING; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MORQUIO SYNDROME; NANOENGINEERING; NERVE DEGENERATION; NEWBORN SCREENING; NONHUMAN; OSTEOARTHRITIS; PATHOPHYSIOLOGY; PSYCHOSOMATIC DISORDER; RHEUMATOID ARTHRITIS; SANFILIPPO SYNDROME; SLEEP DISORDER; SUBSTRATE REDUCTION THERAPY;

ANIMALS; ENZYME REPLACEMENT THERAPY; GENE THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; MOLECULAR CHAPERONES; MUCOPOLYSACCHARIDOSIS III;

EID: 79956260490     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111795542651     Document Type: Article

References (96)

1. Klein, U.; Kresse, H.; Von, F. K. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Proc. Natl. Acad. Sci. USA, 1978, 75 (10), 5185-5189.
2. Valstar, M. J.; Ruijter, G. J.; van Diggelen, O. P.; Poorthuis, B. J.; Wijburg, F. A. Sanfilippo syndrome: A mini-review. J. Inherit. Metab. Dis., 2008, [Epub ahead of print]
3. Cleary, M. A.; Wraith, J. E. Management of mucopolysaccharidosis type III. Arch. Dis. Child, 1993, 69 (3), 403-406.
4. Clarke, L. A. The mucopolysaccharidoses: a success of molecular medicine. Exp. Rev. Mol. Med., 2008, 10, e1.
5. Jolly, R. D.; Walkley, S. U. Lysosomal storage diseases of animals: an essay in comparative pathology. Vet. Pathol., 1997, 34 (6), 527-548.
6. Walkley, S. U. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin. Cell Dev. Biol., 2004, 15 (4), 433-444.
7. Bishop, J. R.; Schuksz, M.; Esko, J. D. Heparan sulphate proteoglycans fine-tune mammalian physiology. Nature, 2007, 446 (7139), 1030-1037.
8. Jackson, R. L.; Busch, S. J.; Cardin, A. D. Glycosaminoglycans: molecular properties, protein interactions, and role in physiological processes. Physiol. Rev., 1991, 71 (2), 481-539.
9. Li, H. H.; Yu, W. H.; Rozengurt, N.; Zhao, H. Z.; Lyons, K. M.; Anagnostaras, S.; Fanselow, M. S.; Suzuki, K.; Vanier, M. T.; Neufeld, E. F. Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-Nacetylglucosaminidase. Proc. Natl. Acad. Sci. USA, 1999, 96 (25), 14505-14510.
10. Sands, M. S.; Vogler, C.; Kyle, J. W.; Grubb, J. H.; Levy, B.; Galvin, N.; Sly, W. S.; Birkenmeier, E. H. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J. Clin. Invest., 1994, 93 (6), 2324-2331.
11. Constantopoulos, G.; Eiben, R. M.; Schafer, I. A. Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans, lipids and lysosomal enzymes in mucopolysaccharidosis type III B (alpha-N-acetylglucosaminidase deficiency). J. Neurochem., 1978, 31 (5), 1215-1222.
12. Jones, M. Z.; Alroy, J.; Boyer, P. J.; Cavanagh, K. T.; Johnson, K.; Gage, D.; Vorro, J.; Render, J. A.; Common, R. S.; Leedle, R. A.; Lowrie, C.; Sharp, P.; Liour, S. S.; Levene, B.; Hoard, H.; Lucas, R.; Hopwood, J. J. Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J. Neuropathol. Exp. Neurol., 1998, 57 (2), 148-157.
13. McGlynn, R.; Dobrenis, K.; Walkley, S. U. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J. Comp Neurol., 2004, 480 (4), 415-426.
14. Jones, M. Z.; Alroy, J.; Downs-Kelly, E.; Lucas, R. E.; Kraemer, S. A.; Cavanagh, K. T.; King, B.; Hopwood, J. J. Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations. J. Mol. Neurosci., 2004, 24 (2), 277-291.
15. Ohmi, K.; Greenberg, D. S.; Rajavel, K. S.; Ryazantsev, S.; Li, H. H.; Neufeld, E. F. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc. Natl. Acad. Sci. USA, 2003, 100 (4), 1902-1907.
16. Simonaro, C. M.; Haskins, M. E.; Schuchman, E. H. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab. Invest., 2001, 81 (9), 1319-1328.
17. Parish, C. R. The role of heparan sulphate in inflammation. Nat. Rev. Immunol., 2006, 6 (9), 633-643.
18. Huntington, J. A. Mechanisms of glycosaminoglycan activation of the serpins in hemostasis. J. Thromb. Haemost., 2003, 1 (7), 1535-1549.
19. Randall, D. R.; Sinclair, G. B.; Colobong, K. E.; Hetty, E.; Clarke, L. A. Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease. Mol. Genet. Metab., 2006, 88 (3), 235-243.
20. Meins, M.; Piosik, P.; Schaeren-Wiemers, N.; Franzoni, S.; Troncoso, E.; Kiss, J. Z.; Brosamle, C.; Schwab, M. E.; Molnar, Z.; Monard, D. Progressive neuronal and motor dysfunction in mice overexpressing the serine protease inhibitor protease nexin-1 in postmitotic neurons. J. Neurosci., 2001, 21 (22), 8830-8841.
21. Kalkan, U. S.; Ozbaran, B.; Demiral, N.; Yuncu, Z.; Erermis, S.; Coker, M. Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. Brain Dev., 2010, 32 (2), 156-161.
22. Fraser, J.; Wraith, J. E.; Delatycki, M. B. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin. Genet. 2002, 62 (5), 418-421.
23. Fraser, J.; Gason, A. A.; Wraith, J. E.; Delatycki, M. B. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study. Arch. Dis. Child, 2005, 90 (12), 1239-1242.
24. Brady, R. O. Enzyme replacement for lysosomal diseases. Annu. Rev. Med., 2006, 57, 283-296.
25. Rohrbach, M.; Clarke, J. T. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs, 2007, 67 (18), 2697-2716.
26. Dunder, U.; Kaartinen, V.; Valtonen, P.; Vaananen, E.; Kosma, V. M.; Heisterkamp, N.; Groffen, J.; Mononen, I. Enzyme replacement therapy in a mouse model of aspartylglycosaminuria. FASEB J., 2000, 14 (2), 361-367.
27. Matzner, U.; Herbst, E.; Hedayati, K. K.; Lullmann-Rauch, R.; Wessig, C.; Schroder, S.; Eistrup, C.; Moller, C.; Fogh, J.; Gieselmann, V. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum. Mol. Genet., 2005, 14 (9), 1139-1152.
28. Vogler, C.; Levy, B.; Grubb, J. H.; Galvin, N.; Tan, Y.; Kakkis, E.; Pavloff, N.; Sly, W. S. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA, 2005, 102 (41), 14777-14782.
29. Abbott, N. J.; Patabendige, A. A.; Dolman, D. E.; Yusof, S. R.; Begley, D. J. Structure and function of the blood-brain barrier. Neurobiol. Dis., 2010, 37 (1), 13-25.
30. Begley, D. J.; Pontikis, C. C.; Scarpa, M. Lysosomal storage diseases and the blood-brain barrier. Curr. Pharm. Des., 2008, 14 (16), 1566-1580.
31. Boado, R. J.; Zhang, Y.; Zhang, Y.; Xia, C. F.; Wang, Y.; Pardridge, W. M. Genetic engineering, expression, and activity of a chimeric monoclonal antibody-avidin fusion protein for receptormediated delivery of biotinylated drugs in humans. Bioconjug. Chem., 2008, 19 (3), 731-739.
32. Schiffmann, R. Therapeutic approaches for neuronopathic lysosomal storage disorders. J. Inherit. Metab Dis., 2010, 33(4), 373-379
33. Modi, G.; Pillay, V.; Choonara, Y. E. Advances in the treatment of neurodegenerative disorders employing nanotechnology. Ann. N Y. Acad. Sci., 2010, 1184, 154-172.
34. De Jong, W. H.; Borm, P. J. Drug delivery and nanoparticles:applications and hazards. Int. J. Nanomed., 2008, 3 (2), 133-149.
35. Lockman, P. R.; Mumper, R. J.; Allen, D. D. Evaluation of bloodbrain barrier thiamine efflux using the in situ rat brain perfusion method. J. Neurochem., 2003, 86 (3), 627-634.
36. Modi, G.; Pillay, V.; Choonara, Y. E.; Ndesendo, V. M.; du Toit, L. C.; Naidoo, D. Nanotechnological applications for the treatment of neurodegenerative disorders. Prog. Neurobiol., 2009, 88 (4), 272-285.
37. Calvo, P.; Gouritin, B.; Villarroya, H.; Eclancher, F.; Giannavola, C.; Klein, C.; Andreux, J. P.; Couvreur, P. Quantification and localization of PEGylated polycyanoacrylate nanoparticles in brain and spinal cord during experimental allergic encephalomyelitis in the rat. Eur. J. Neurosci., 2002, 15 (8), 1317-1326.
38. Cui, Z.; Lockman, P. R.; Atwood, C. S.; Hsu, C. H.; Gupte, A.; Allen, D. D.; Mumper, R. J. Novel D-penicillamine carrying nanoparticles for metal chelation therapy in Alzheimer's and other CNS diseases. Eur. J. Pharm. Biopharm., 2005, 59 (2), 263-272.
39. Kreuter, J. Influence of the surface properties on nanoparticlemediated transport of drugs to the brain. J. Nanosci. Nanotechnol., 2004, 4 (5), 484-488.
40. Wang, C. X.; Huang, L. S.; Hou, L. B.; Jiang, L.; Yan, Z. T.; Wang, Y. L.; Chen, Z. L. Antitumor effects of polysorbate-80 coated gemcitabine polybutylcyanoacrylate nanoparticles in vitro and its pharmacodynamics in vivo on C6 glioma cells of a brain tumor model. Brain Res., 2009, 1261, 91-99.
41. Savas, P. S.; Hemsley, K. M.; Hopwood, J. J. Intracerebral injection of sulfamidase delays neuropathology in murine MPSIIIA. Mol. Genet. Metab., 2004, 82 (4), 273-285.
42. Hemsley, K. M.; King, B.; Hopwood, J. J. Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol. Genet. Metab., 2007, 90 (3), 313-328.
43. Kakkis, E.; McEntee, M.; Vogler, C.; Le, S.; Levy, B.; Belichenko, P.; Mobley, W.; Dickson, P.; Hanson, S.; Passage, M. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol. Genet. Metab., 2004, 83 (1-2), 163-174.
44. Hemsley, K. M.; Norman, E. J.; Crawley, A. C.; Auclair, D.; King, B.; Fuller, M.; Lang, D. L.; Dean, C. J.; Jolly, R. D.; Hopwood, J. J. Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study. Mol. Genet. Metab., 2009, 98 (4), 383-392.
45. Hobbs, J. R.; Hugh-Jones, K.; Barrett, A. J.; Byrom, N.; Chambers, D.; Henry, K.; James, D. C.; Lucas, C. F.; Rogers, T. R.; Benson, P. F.; Tansley, L. R.; Patrick, A. D.; Mossman, J.; Young, E. P. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet, 1981, 2 (8249), 709-712.
46. Muenzer, J.; Wraith, J. E.; Clarke, L. A. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics, 2009, 123 (1), 19-29.
47. Krivit, W.; Sung, J. H.; Shapiro, E. G.; Lockman, L. A. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant, 1995, 4 (4), 385-392.
48. Gungor, N.; Tuncbilek, E. Sanfilippo disease type B. A case report and review of the literature on recent advances in bone marrow transplantation. Turk. J. Pediatr., 1995, 37 (2), 157-163.
49. Sivakumur, P.; Wraith, J. E. Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J. Inherit. Metab Dis., 1999, 22 (7), 849-850.
50. Vellodi, A.; Young, E.; New, M.; Pot-Mees, C.; Hugh-Jones, K. Bone marrow transplantation for Sanfilippo disease type B. J. Inherit. Metab Dis., 1992, 15 (6), 911-918.
51. Hoogerbrugge, P. M.; Brouwer, O. F.; Bordigoni, P.; Ringden, O.; Kapaun, P.; Ortega, J. J.; O'Meara, A.; Cornu, G.; Souillet, G.; Frappaz, D. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet, 1995, 345 (8962), 1398-1402.
52. Boelens, J. J.; Prasad, V. K.; Tolar, J.; Wynn, R. F.; Peters, C. Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders. Pediatr. Clin. North Am., 2010, 57 (1), 123-145.
53. Chen, N.; Hudson, J. E.; Walczak, P.; Misiuta, I.; Garbuzova- Davis, S.; Jiang, L.; Sanchez-Ramos, J.; Sanberg, P. R.; Zigova, T.; Willing, A. E. Human umbilical cord blood progenitors: the potential of these hematopoietic cells to become neural. Stem Cells, 2005, 23 (10), 1560-1570.
54. Garbuzova-Davis, S.; Willing, A. E.; Desjarlais, T.; Davis, S. C.; Sanberg, P. R. Transplantation of human umbilical cord blood cells benefits an animal model of Sanfilippo syndrome type B. Stem Cells Dev., 2005, 14 (4), 384-394.
55. Garbuzova-Davis, S.; Klasko, S. K.; Sanberg, P. R. Intravenous administration of human umbilical cord blood cells in an animal model of MPS III B. J. Comp. Neurol., 2009, 515 (1), 93-101.
56. Fan, J. Q.; Ishii, S. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J., 2007, 274 (19), 4962-4971.
57. Ishii, S.; Yoshioka, H.; Mannen, K.; Kulkarni, A. B.; Fan, J. Q. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim. Biophys. Acta, 2004, 1690 (3), 250-257.
58. Schueler, U. H.; Kolter, T.; Kaneski, C. R.; Zirzow, G. C.; Sandhoff, K.; Brady, R. O. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J. Inherit. Metab Dis., 2004, 27 (5), 649-658.
59. Parenti, G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol. Med., 2009, 1 (5), 268-279.
60. Ficko-Blean, E.; Stubbs, K. A.; Nemirovsky, O.; Vocadlo, D. J.; Boraston, A. B. Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc. Natl. Acad. Sci. USA, 2008, 105 (18), 6560-6565.
61. Zhao, K. W.; Neufeld, E. F. Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein Expr. Purif., 2000, 19 (1), 202-211.
62. Feldhammer, M.; Durand, S.; Pshezhetsky, A. V. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS. One, 2009, 4 (10), e7434.
63. Tsai, T. H. Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application. J. Chromatogr., A 2005, 1073 (1-2), 317-322.
64. Berkin, A.; Szarek, W. A.; Kisilevsky, R. Biological evaluation of a series of 2-acetamido-2-deoxy-D-glucose analogs towards cellular glycosaminoglycan and protein synthesis in vitro. Glycoconj. J., 2005, 22 (7-9), 443-451.
65. Brown, J. R.; Crawford, B. E.; Esko, J. D. Glycan antagonists and inhibitors: a fount for drug discovery. Crit Rev. Biochem. Mol. Biol., 2007, 42 (6), 481-515.
66. Stevens, R. L.; Parsons, W. G.; Austen, K. F.; Hein, A.; Caulfield, J. P. Novel inhibition of proteoglycan synthesis and exocytosis by diethylcarbamazine in the Swarm rat chondrocyte. J. Biol. Chem., 1985, 260 (9), 5777-5786.
67. Uhlin-Hansen, L.; Yanagishita, M.; Differential effect of brefeldin A on the biosynthesis of heparan sulfate and chondroitin/dermatan sulfate proteoglycans in rat ovarian granulosa cells in culture. J. Biol. Chem., 1993, 268 (23), 17370-17376.
68. Yanagishita, M.; Hascall, V. C.;Effects of monensin on the synthesis, transport, and intracellular degradation of proteoglycans in rat ovarian granulosa cells in culture. J. Biol. Chem., 1985, 260 (9), 5445-5455.
69. Jakobkiewicz-Banecka, J.; Piotrowska, E.; Narajczyk, M.; Baranska, S.; Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J. Biomed. Sci., 2009, 16, 26.
70. Piotrowska, E.; Jakobkiewicz-Banecka, J.; Baranska, S.; Tylki- Szymanska, A.; Czartoryska, B.; Wegrzyn, A.; Wegrzyn, G. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur. J. Hum. Genet. 2006, 14 (7), 846-852.
71. Piotrowska, E.; Jakobkiewicz-Banecka, J.; Wegrzyn, G. Different amounts of isoflavones in various commercially available soy extracts in the light of gene expression-targeted isoflavone therapy. Phytother. Res., 2010, 24 (Suppl 1), S109-S113.
72. Arfi, A.; Richard, M.; Gandolphe, C.; Scherman, D. Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones. J. Inherit. Metab Dis., 2010, 33 (1), 61-67.
73. Nijveldt, R. J.; van, N. E.; van Hoorn, D. E.; Boelens, P. G.; van, N. K.; van Leeuwen, P. A. Flavonoids: a review of probable mechanisms of action and potential applications. Am. J. Clin. Nutr., 2001, 74 (4), 418-425.
74. Valles, S. L.; Dolz-Gaiton, P.; Gambini, J.; Borras, C.; Lloret, A.; Pallardo, F. V.; Vina, J. Estradiol or genistein prevent Alzheimer's disease-associated inflammation correlating with an increase PPAR gamma expression in cultured astrocytes. Brain Res., 2010, 1312, 138-144.
75. Richard, M.; Arfi, A.; Rhinn, H.; Gandolphe, C.; Scherman, D. Identification of new markers for neurodegeneration process in the mouse model of Sly disease as revealed by expression profiling of selected genes. J. Neurosci. Res., 2008, 86 (15), 3285-3294.
76. Settembre, C.; Fraldi, A.; Rubinsztein, D. C.; Ballabio, A. Lysosomal storage diseases as disorders of autophagy. Autophagy., 2008, 4 (1), 113-114.
77. Malinowska, M.; Wilkinson, F. L.; Bennett, W.; Langford-Smith, K. J.; O'Leary, H. A.; Jakobkiewicz-Banecka, J.; Wynn, R.; Wraith, J. E.; Wegrzyn, G.; Bigger, B. W. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol. Genet. Metab, 2009, 98 (3), 235-242.
78. Friso, A.; Tomanin, R.; Salvalaio, M.; Scarpa, M. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br. J. Pharmacol., 2010, 159 (5), 1082-1091.
79. Piotrowska, E.; Jakobkiewicz-Banecka, J.; Tylki-Szymanska, A.; Liberek, A.; Maryniak, A.; Malinowska, M.; Czartoryska, B.; Puk, E.; Kloska, A.; Liberek, T.; Baranska, S.; Wegrzyn, A.; Wegrzyn, G. Genistin-rich soy isoflavone extract in substrate reduction therapy for sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr. Ther. Res. Clin. Exp., 2008, 69, 166-179.
80. Sands, M. S.; Davidson, B. L. Gene therapy for lysosomal storage diseases. Mol. Ther., 2006, 13 (5), 839-849.
81. Daly, T. M.; Sands, M. S. Gene therapy for lysosomal storage diseases. Expert. Opin. Investig. Drugs, 1998, 7 (10), 1673-1682.
82. Ponder, K. P.; Haskins, M. E. Gene therapy for mucopolysaccharidosis. Expert. Opin. Biol. Ther., 2007, 7 (9), 1333-1345.
83. Zheng, Y.; Ryazantsev, S.; Ohmi, K.; Zhao, H. Z.; Rozengurt, N.; Kohn, D. B.; Neufeld, E. F. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol. Genet. Metab., 2004, 82 (4), 286-295.
84. Cartier, N.; Hacein-Bey-Abina, S.; Bartholomae, C. C.; Veres, G.; Schmidt, M.; Kutschera, I.; Vidaud, M.; Abel, U.; Dal-Cortivo, L.; Caccavelli, L.; Mahlaoui, N.; Kiermer, V.; Mittelstaedt, D.; Bellesme, C.; Lahlou, N.; Lefrere, F.; Blanche, S.; Audit, M.; Payen, E.; Leboulch, P.; l'Homme, B.; Bougneres, P.; Von, K. C.; Fischer, A.; Cavazzana-Calvo, M.; Aubourg, P. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science, 2009, 326 (5954), 818-823.
85. Hacein-Bey-Abina, S.; Von Kalle C.; Schmidt, M.; Le, Deist. F.; Wulffraat, N.; McIntyre, E.; Radford, I.; Villeval, J. L.; Fraser, C. C.; Cavazzana-Calvo, M.; Fischer, A. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med., 2003, 348 (3), 255-256.
86. Hacein-Bey-Abina, S.; Garrigue, A.; Wang, G. P.; Soulier, J.; Lim, A.; Morillon, E.; Clappier, E.; Caccavelli, L.; Delabesse, E.; Beldjord, K.; Asnafi, V.; MacIntyre, E.; Dal, C. L.; Radford, I.; Brousse, N.; Sigaux, F.; Moshous, D.; Hauer, J.; Borkhardt, A.; Belohradsky, B. H.; Wintergerst, U.; Velez, M. C.; Leiva, L.; Sorensen, R.; Wulffraat, N.; Blanche, S.; Bushman, F. D.; Fischer, A.; Cavazzana-Calvo, M. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest., 2008, 118 (9), 3132-3142.
87. Cressant, A.; Desmaris, N.; Verot, L.; Brejot, T.; Froissart, R.; Vanier, M. T.; Maire, I.; Heard, J. M. Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J. Neurosci., 2004, 24 (45), 10229-10239.
88. Fu, H.; Samulski, R. J.; McCown, T. J.; Picornell, Y. J.; Fletcher, D.; Muenzer, J. Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery. Mol. Ther., 2002, 5 (1), 42-49.
89. Di Domenico, C.; Villani, G. R.; Di Napoli, D.; Nusco, E.; Cali, G.; Nitsch, L.; Di Natale, P. Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. Am. J. Med. Genet. A, 2009, 149A (6), 1209-1218.
90. Goldstein, J. L.; Young, S. P.; Changela, M.; Dickerson, G. H.; Zhang, H.; Dai, J.; Peterson, D.; Millington, D. S.; Kishnani, P. S.; Bali, D. S. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle Nerve, 2009, 40 (1), 32-36.
91. Wang, D.; Wood, T.; Sadilek, M.; Scott, C. R.; Turecek, F.; Gelb, M. H. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin. Chem., 2007, 53 (1), 137-140.
92. Zhang, X. K.; Elbin, C. S.; Chuang, W. L.; Cooper, S. K.; Marashio, C. A.; Beauregard, C.; Keutzer, J. M. Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem., 2008, 54 (10), 1725-1728.
93. Dajnoki, A.; Fekete, G.; Keutzer, J.; Orsini, J. J.; De Jesus, V. R.; Chien, Y. H.; Hwu, W. L.; Lukacs, Z.; Muhl, A.; Zhang, X. K.; Bodamer, O. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. Clin. Chim. Acta, 2010.
94. Labrousse, P.; Chien, Y. H.; Pomponio, R. J.; Keutzer, J.; Lee, N. C.; Akmaev, V. R.; Scholl, T.; Hwu, W. L. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol. Genet. Metab., 2010, 99 (4), 379-383.
95. Di Natale, P.; Di Domenico, C.; D Napoli, D. Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice. J. Inherit. Metab. Dis., 2010, 33 (2), 159-165.
96. Langford-Smith, K.; Arasaradnam, M.; Wraith, J. E.; Wynn, R.; Bigger, B. W. Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. Mol. Genet. Metab., 2010, 99 (3), 269-274.