Treatment of fabry disease: Current and emerging strategies

Current Pharmaceutical Biotechnology

Volumn 12, Issue 6, 2011, Pages 916-922

  Rozenfeld, Paula ^a   Neumann, Pablo M ^b  

^a FACULTAD DE CIENCIAS EXACTAS   (Argentina)

^b HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

Author keywords

Agalsidase alfa; Alpha galactosidase a; Chaperone treatment; Enzyme replacement therapy; Fabry disease; Gene therapy

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; ANALGESIC AGENT; ANTICONVULSIVE AGENT; ANTIINFLAMMATORY AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; MIGALASTAT; OPIATE; SPASMOLYTIC AGENT;

ABDOMINAL PAIN; ANALGESIA; ARTICLE; CARDIOMYOPATHY; DIALYSIS; ENZYME REPLACEMENT; FABRY DISEASE; GENE THERAPY; GLOMERULUS FILTRATION RATE; HEMIZYGOTE; HUMAN; IMMUNOGENICITY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; NEUROPATHIC PAIN; NONHUMAN; PROTEINURIA;

1-DEOXYNOJIRIMYCIN; ALPHA-GALACTOSIDASE; ANIMALS; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; GENE THERAPY; HUMANS; MUTATION, MISSENSE;

MUS MUSCULUS;

EID: 79956274761     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111795542705     Document Type: Article

References (82)

1. Brady, R. O.; Gal, A. E.; Bradley, R. M.; Martensson, E.; Warshaw, A. L.; Laster, L. Enzymatic defect in Fabry disease. N. Engl. J. Med., 1967, 276(21), 1163-1167.
2. Kint, J. A. Fabry disease. a-Galactosidase deficiency. Science,1970, 167(3922) 1268-1269.
3. Desnick, R. J.; Ioannou, Y. A.; Eng, C. M. In: The Metabolic andMolecular Bases of Inherited Disease; Scriver, C. R.; Beaudet, A.L.; Sly, W. X.; Valle, D. Eds.; McGraw Hill: New York, 1995, pp.2741-2784.
4. Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. Prevalence of lysosomal storage disorders. JAMA, 1999, 281(3), 249-254.
5. Desnick, R. J.; Ioannou, Y. A.; Eng, C. M. In: The Metabolic and Molecular Basis of Inherited Disease; Scriver, C. R.; Beaudet, A.L.; Sly, W. S.; Valle, D. Eds.; McGraw Hill: New York, 2001, pp.3733-3774.
6. Spada, M.; Pagliardini, S.; Yasuda, M.; Tukel, T.; Thiagarajan, G.; Sakuraba, H.; Ponzone, A.; Desnick, R. J. High incidence of lateronsetFabry disease revealed by newborn screening. Am. J. Hum.Genet., 2006, 79(1), 31-40.
7. Macdermot, K. D.; Holmes, A.; Miners, A. H. Anderson-Fabrydisease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet., 2001, 38(11), 750-760.
8. Ramaswami, U.; Whybra, C.; Parini, R.; Pintos-Morell, G.; Mehta, A.; Sunder-Plassmann, G.; Widmer, U.; Beck, M.; FOS EuropeanInvestigators. Clinical manifestations of Fabry disease in children:data from the Fabry outcome survey. Acta Paediatr., 2006, 95(1),86-92.
9. Nakao, S.; Takenaka, T.; Maeda, M.; Kodama, C.; Tanaka, A.; Tahara, M.; Yoshida, A.; Kuriyama, M.; Hayashibe, H.; Sakuraba, H.; Tanaka, H. An atypical variant of Fabry's disease in men withleft ventricular hypertrophy. N. Engl. J. Med., 1995, 333(5), 288-293.
10. Nagao, Y.; Nakashima, H.; Fukuhara, Y.; Shimmoto, M.; Oshima, A.; Ikari, Y.; Mori, Y.; Sakuraba, H.; Suzuki, Y. Hypertrophic cardiomyopathyin late-onset variant of Fabry disease with high residualactivity of alpha-galactosidase A. Clin. Genet., 1991, 39(3),233-237.
11. Dobyns W. B. The pattern of inheritance of X-linked traits is notdominant or recessive, just X-linked. Acta Paediatr., (Suppl), 2006,95(451), 11-15.
12. Wilcox, W. R.; Oliveira, J. P.; Hopkin, R. J.; Ortiz, A.; Banikazemi, M.; Feldt-Rasmussen, U.; Sims, K.; Waldek, S.; Pastores, G.M.; Lee, P.; Eng, C. M.; Marodi, L.; Stanford, K. E.; Breunig, F.; Wanner, C.; Warnock, D. G.; Lemay, R. M.; Germain, D. P.; Fabry Registry. Females with Fabry disease frequently have major organinvolvement: lessons from the Fabry Registry. Mol. Genet. Metab.,2008, 93(2), 112-128.
13. Desnick, R. J.; Allen, Y. K.; Desnick, S.; Raman, M. K.; Bernlohr, R. W.; Krivit, W. Fabry's disease: enzymatic diagnosis of hemyzigotesand heterozygotes. a-Galactosidase A activities in plasma,serum, urine and leukocytes. J. Lab. Clin. Med., 1973, 81(2), 157-171.
14. Ashton-Prolla, P.; Tong, B.; Shabbeer, J.; Astrin, K. H.; Eng, C.M.; Desnick, R. J. Fabry disease: twenty-two novel mutations inthe alpha-galactosidase A gene and genotype/phenotype correlationsin severely and mildly affected hemizygotes and heterozygotes. J. Investig. Med., 2000, 48(4), 227-235.
15. Lee, K.; Jin, X.; Zhang, K.; Copertino, L.; Andrews, L.; Baker-Malcolm, J.; Geagan, L.; Qiu, H.; Seiger, K.; Barngrover, D.; McPherson, J. M.; Edmunds, T. A biochemical and pharmacologicalcomparison of enzyme replacement therapies for the glycolipidstorage disorder Fabry disease. Glycobiology, 2003, 13(4), 305-313.
16. Eng, C. M.; Guffon, N.; Wilcox, W. R.; Germain, D.P.; Lee, P.; Waldek, S.; Caplan, L.; Linthorst, G. E.; Desnick, R. J.; International Collaborative Fabry Disease Study Group. Safety andefficacy of recombinant human alpha-galactosidase A replacementtherapy in Fabry's disease. N. Engl. J. Med., 2001, 345(1), 9-16.
17. Schiffmann, R.; Kopp, J.B.; Austin, H.A3rd.; Sabnis, S.; Moore, D.F.; Weibel, T.; Balow, J. E.; Brady, R. O. Enzyme replacementtherapy in Fabry disease: a randomized controlled trial. JAMA,2001, 285(21), 2743-2749.
18. Thurberg, B. L.; Randolph Byers, H.; Granter, S. R.; Phelps, R. G.; Gordon, R. E.; O'Callaghan, M. Monitoring the 3-year efficacy ofenzyme replacement therapy in Fabry disease by repeated skin biopsies.J. Invest. Dermatol., 2004, 122(4), 900-908.
19. Thurberg, B. L.; Rennke, H.; Colvin, R. B.; Dikman, S.; Gordon, R. E.; Collins, A. B.; Desnick, R. J.; O'Callaghan, M. Globotriaosylceramideaccumulation in the Fabry kidney is cleared from multiplecell types after enzyme replacement therapy. Kidney Int.,2002, 62(6),1933-1946.
20. Wilcox, W. R.; Banikazemi, M.; Guffon, N.; Waldek, S.; Lee, P.; Linthorst, G. E.; Desnick, R. J.; Germain, D. P. International fabrydisease study group. long-term safety and efficacy of enzyme replacementtherapy for fabry disease. Am. J. Hum. Genet., 2004,75(1), 65-74.
21. Pisani, A.; Spinelli, L.; Sabbatini, M.; Andreucci, M.V.; Procaccini, D.; Abbaterusso, C.; Pasquali, S.; Savoldi, S.; Comotti, C.; Cianciaruso, B. Enzyme replacement therapy in Fabry disease patientsundergoing dialysis: effects on quality of life and organ involvement.Am. J. Kidney Dis., 2005, 46(1), 120-127.
22. Hoffmann, B.; Garcia de Lorenzo, A.; Mehta, A.; Beck, M.; Widmer, U.; Ricci, R.; FOS European Investigators. Effects of enzymereplacement therapy on pain and health related quality of life in patientswith Fabry disease: data from FOS (Fabry Outcome Survey).J. Med. Genet., 2005, 42(3), 247-252.
23. Schiffmann, R.; Floeter, M. K.; Dambrosia, J. M.; Gupta, S.; Moore, D. F.; Sharabi, Y.; Khurana, R. K.; Brady, R.O. Enzymereplacement therapy improves peripheral nerve and sweat functionin Fabry disease. Muscle Nerve, 2003, 28(6),703-710.
24. Hilz, M. J.; Brys, M.; Marthol, H.; Stemper, B.; Dutsch, M. Enzymereplacement therapy improves function of C-Adelta-, andabeta-nerve fibers in fabry neuropathy. Neurology, 2004, 62(7),1066-1072.
25. Hoffmann, B.; Beck, M.; Sunder-Plassmann, G.; Borsini, W.; Ricci, R.; Mehta, A.; On behalf of the FOS European Investigators.Nature and prevalence of pain in fabry disease and its response toenzyme replacement therapy-a retrospective analysis from thefabry outcome survey. Clin. J. Pain, 2007, 23(6), 535-542.
26. Dehout, F.; Roland, D.; Treille de Granseigne, S.; Guillaume, B.; Van Maldergem, L. Relief of gastrointestinal symptoms under enzymereplacement therapy in patients with Fabry disease. J. Inherit.Metab. Dis., 2004, 27(4), 499-505.
27. Moore, D. F.; Altarescu, G.; Ling, G. S.; Jeffries, N.; Frei, K. P.; Weibel, T.; Charria-Ortiz, G.; Ferri, R.; Arai, A. E.; Brady, R.O.; Schiffmann, R. Elevated cerebral blood flow velocities in Fabrydisease with reversal after enzyme replacement. Stroke, 2002, 33,525-531.
28. Jardim, L.; Vedolin, L.; Schwartz, I. V.; Burin, M. G.; Cecchin, C.; Kalakun, L.; Matte, U.; Aesse, F.; Pitta-Pinheiro, C.; Marconato, J.; Giugliani, R. CNS involvement in Fabry disease: clinical and imagingstudies before and after 12 months of enzyme replacement therapy. J. Inherit. Metab. Dis., 2004, 27(2), 229-240.
29. Branton, M. H.; Schiffmann, R.; Sabnis, S. G.; Murray, G. J.; Quirk, J. M.; Altarescu, G.; Goldfarb, L.; Brady, R. O.; Balow, J.E.; Austin Iii H. A.; Kopp, J. B. Natural history of Fabry renal disease:influence of alpha-galactosidase A activity and genetic mutationson clinical course. Medicine, (Baltimore), 2002, 81(2), 122-138.
30. West, M.; Nicholls, K.; Mehta, A.; Clarke, J. T. R.; Steiner, R.; Beck, M.; Barshop, B. A.; Rhead, W.; Mensah, R.; Ries, M.; Schiffmann, R. Agalsidase alfa and kidney dysfunction in fabrydisease. J. Am. Soc. Nephrol., 2009, 20(5), 1132-1139.
31. Germain, D. P.; Waldek, S.; Banikazemi, M.; Bushinsky, D. A.; Charrow, J.; Desnick, R. J.; Lee, P.; Loew, T.; Vedder, A. C.; Abichandani, R.; Wilcox, W. R.; Guffon, N. Sustained, long-termrenal stabilization after 54 months of agalsidase beta therapy in patientswith Fabry disease. J. Am. Soc. Nephrol., 2007, 18(5), 1547-1557.
32. Feriozzi, S.; Schwarting, A.; Sunder-Plassmann, G.; West, M.; Cybulla, M.; International fabry outcome survey investigators. Agalsidasealfa slows the decline in renal function in patients withfabry disease. Am. J. Nephrol., 2009, 9(5), 353-361.
33. Dehout, F.; Schwarting, A.; Beck, M.; Mehta, A.; Ricci, R.; Widmer, U.; FOS Investigators. Effects of enzyme replacement therapywith agalsidase alfa on glomerular filtration rate in patients withFabry disease: preliminary data. Acta Paediatr. Suppl., 2003,92(443), 14-15.
34. Banikazemi, M.; Bultas, J.; Waldek, S.; Wilcox, W. R.; Whitley, C.B.; McDonald, M.; Finkel, R.; Packman, S.; Bichet, D. G.; Warnock, D. G.; Desnick, R. J. Fabry Disease Clinical Trial StudyGroup. Agalsidase-beta therapy for advanced Fabry disease: a randomizedtrial. Ann. Intern. Med., 2007, 146(2), 77-86.
35. Clarke, J. T.; West, M. L.; Bultas, J.; Schiffmann, R. The pharmacologyof multiple regimens of agalsidase alfa enzyme replacementtherapy for Fabry disease. Genet. Med., 2007, 9(8), 504-509.
36. Schiffmann, R.; Askari, H.; Timmons, M.; Robinson, C.; Benko, W.; Brady, R. O.; Ries, M. Weekly enzyme replacement therapymay slow decline of renal function in patients with Fabry diseasewho are on long-term biweekly dosing. J. Am. Soc. Nephrol., 2007,18(5), 1576-1583.
37. Vedder, A. C.; Breunig, F.; Donker-Koopman, W. E.; Mills, K.; Young, E.; Winchester, B.; Ten Berge, I. J.; Groener, J. E.; Aerts, J.M.; Wanner, C.; Hollak, C. E. Treatment of Fabry disease with differentdosing regimens of agalsidase: Effects on antibody formationand GL-3. Mol. Genet. Metab., 2008, 94(3), 319-325
38. Pastores, G. M.; Boyd, E.; Crandall, K.; Whelan, A.; Piersall, L.; Barnett, N. Safety and pharmacokinetics of agalsidase alfa in patientswith Fabry disease and end-stage renal disease. Nephrol. Dial. Transplant., 2007, 22(7), 1920-1925.
39. US Renal Data System. Causes of death. Am. J. Kidney Dis., 1997,30(Suppl 1), S107-S117.
40. Foley, R. N.; Parfrey, P. S.; Harnett, J. D. Clinical and echocardiographicdisease in patients starting end-stage renal disease therapy. Kidney Int., 1995, 47(1), 186-192.
41. Siamopoulos, K. C. Fabry disease: kidney involvement and enzymereplacement therapy. Kidney Int., 2004, 65(2), 744-753.
42. Kosch, M.; Koch, H. G.; Oliveira, J. P.; Soares, C.; Bianco, F.; Breuning, F.; Rasmussen, A. K.; Schaefer, R. M. M. Enzyme replacementtherapy administered during hemodyalisis. Kidney Int.,2004, 66(3), 1279-1282.
43. Shah, T.; Gill, J.; Malhotra, N.; Takemoto, S. K.; Bunnapradist, S. Kidney Transplant Outcomes in Patients With Fabry Disease. Transplantation, 2009, 87(2), 280-285.
44. Weidemann, F.; Breunig, F.; Beer, M.; Sandstede, J.; Turschner, O.; Voelker, W.; Ertl, G.; Knoll, A.; Wanner, C.; Strotmann, J. M. Improvement of cardiac function during enzyme replacement therapyin patients with Fabry disease: a prospective strain rate imagingstudy. Circulation, 2003, 108(11), 1299-1301.
45. Mignani, R.; Panichi, V.; Giudicissi, A.; Taccola, D.; Boscaro, F.; Feletti, C.; Moneti, G.; Cagnoli, L. Enzyme replacement therapywith agalsidase beta in kidney transplant patients with Fabry disease:a pilot study. Kidney Int., 2004, 65(4),1381-1385.
46. Kampmann, C.; Linhart, A.; Devereux, R. B.; Schiffmann, R. Effect of agalsidase alfa replacement therapy on Fabry disease-relatedhypertrophic cardiomyopathy: a 12- to 36-month, retrospective,blinded echocardiographic pooled analysis. Clin. Ther., 2009,31(9), 1966-1976.
47. Weidemann, F.; Breunig, F.; Beer, M.; Sandstede, J.; Stork, S.; Voelker, W.; Ertl, G.; Knoll, A.; Wanner, C.; Strotmann, J. M. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur. Heart J., 2005, 26(12), 1221-1227.
48. Moon, J. C.; Sachdev, B.; Elkington, A. G.; McKenna, W. J.; Mehta, A.; Pennell, D. J.; Leed, P. J.; Elliott, P. M. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease:evidence for a disease specificab normality of the myocardialinterstitium. Eur. Heart J., 2003, 24(23), 2151-2155.
49. Weidemann, F.; Niemann, M.; Breunig, F.; Herrmann, S.; Beer, M.; Störk, S.; Voelker, W.; Ertl, G.; Wanner, C.; Strotmann, J. Long-term effects of enzyme replacement therapy on fabry cardiomyopathyevidencefor a better outcome with early treatment. Circulation,2009, 119(4), 524-529.
50. Imbriaco, M.; Pisani, A.; Spinelli, L.; Cuocolo, A.; Messalli, G.; Capuano, E.; Marmo, M.; Liuzzi, R.; Visciano, B.; Cianciaruso, B.; Salvatore, M. Effects of enzyme-replacement therapy in patientswith Anderson-Fabry disease: a prospective long-term cardiacmagnetic resonance imaging study. Heart, 2009, 95(13), 1103-1107.
51. Hughes, D. A. Early therapeutic intervention in females with Fabrydisease? Acta Paediatr. Suppl., 2008, 97(457), 41-47.
52. Whybra, C.; Miebach, E.; Mengel, E.; Gal, A.; Baron, K.; Beck, M.; Kampmann, C.A. 4-year study of the efficacy and tolerabilityof enzyme replacement therapy with agalsidase alfa in 36 womenwith Fabry disease. Genet. Med., 2009, 11(6), 441-449.
53. Baehner, F.; Kampmann, C.; Whybra, C.; Miebach, E.; Wiethoff, C.M.; Beck, M. Enzyme replacement therapy in heterozygous femaleswith Fabry disease: results of a phase IIIB study. J. Inherit.Metab. Dis., 2003, 26(7), 617-627.
54. Wendt, S.; Whybra, C.; Kampmann, C.; Teichmann, E.; Beck, M. Successful pregnancy outcome in a patient with Fabry disease receivingenzyme replacement therapy with agalsidase alfa. J. Inherit.Metab. Dis., 2005, 28(5), 787-788.
55. Wraith, J. E.; Tylki-Szymanska, A.; Guffon, N.; Lien, Y. H.; Tsimaratos, M.; Vellodi, A.; Germain, D. P. Safety and efficacy of enzymereplacement therapy with agalsidase beta: an international,open-label study in pediatric patients with Fabry disease. J. Pediatr.,2008, 152(4), 563-570.
56. Ries, M.; Clarke, J.T.R.; Whybra, C.; Timmons, M.; Robinson, C.; Schlaggar, B. L.; Pastores, G.; Lien, Y. H.; Kampmann, C.; Brady, R. O.; Beck, M.; Schiffmann, R. Enzyme replacement therapy withagalsidase alfa in children with Fabry disease. Pediatrics, 2006,118(3), 924-932.
57. Schiffmann, R.; Martin, R. A.; Reimschisel, T.; Johnson, K.; Castaneda, V.; Lien, Y. H.; Pastores, G. M.; Kampmann, C.; Ries, M.; Clarke, J. T. Four-year prospective clinical trial of agalsidase alfain children with Fabry disease. J. Pediatr., 2010, 156(5), 832-837.
58. Cousins, A.; Lee, P.; Rorman, D.; Raas-Rothschild, A.; Banikazemi, M.; Waldek, S.; Thompson, L. Home-based infusiontherapy for patients with Fabry disease. Br. J. Nurs., 2008, 17(10),653-657.
59. Bodensteiner, D.; Scott, C. R.; Sims, K. B.; Sheperd, G. M.; Cintron, R. D.; Germain, D. P. Successful reinstitution of agalsidasebeta therapy in Fabry disease patients with previous IgE-antibodyor skin-test reactivity to the recombinant enzyme. Genet. Med.,2008, 10(5), 353-358.
60. Sirrs, S.; Clarke, J.T.R.; Bichet, D. G.; Casey, R.; Lemoine, K.; Flowerdew, G.; Sinasac, D.S.; West, M. L. Baseline characteristicsof patients enrolled in the Canadian Fabry Disease Initiative. Mol.Genet. Metab., 2010, 99(4), 367-373.
61. Mehta, A.; Beck, M.; Elliott, P.; Giugliani, R.; Linhart, A.; Sunder-Plassmann, G.; Schiffmann, R.; Barbey, F.; Ries, M.; Clarke, J. T.; Fabry Outcome Survey investigators. Enzyme replacement therapywith agalsidase alfa in patients with Fabry's disease: an analysis ofregistry data. Lancet, 2009, 374(9706), 1986-1996.
62. Remeo, G.; Urso, M.; Piszcane, A.; Blum, E.; de Falco, A.; Ruffilli, A. Residual activity of α-galactosidase A in Fabrýs disease. Biochem.Genet, 1975, 13(9-10), 615-628.
63. Zhang, K.; Kaufman, R. J. The unfolded protein response: a stresssignaling pathway critical for health and disease. Neurology, 2006,66(2 Suppl 1), S102-S109.
64. Asano, N.; Ishii, S.; Kizu, H.; Ikeda, K.; Yasuda, K.; Kato, A.; Martin, O. R.; Fan, J. Q. In vitro inhibition and intracellular enhancementof lysosomal alpha-galactosidase A activity in Fabrylymphoblasts by 1-deoxygalactonojirimycin and its derivatives.Eur. J. Biochem., 2000, 267(13),4179-4186.
65. Fan, J. Q.; Ishii, S.; Asano, N.; Suzuki, Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblastsby an enzyme inhibitor. Nat. Med., 1999, 5(1),112-115.
66. Hamanaka, R.; Shinohara, T.; Yano, S.; Nakamura, M.; Yasuda, A.; Yokoyama, S.; Fan, J. Q.; Kawasaki, K.; Watanabe, M.; Ishii,S. Rescue of mutant alpha-galactosidase A in the endoplasmic reticulumby 1-deoxygalactonojirimycin leads to trafficking tolysosomes. Biochim. Biophys. Acta, 2008, 1782(6), 408-413.
67. Yam, G. H.; Zuber, C.; Roth, J. A synthetic chaperone corrects thetrafficking defect and disease phenotype in a protein misfoldingdisorder. FASEB J., 2005, 19(1),12-18.
68. Yam, G. H.; Bosshard, N.; Zuber, C.; Steinmann, B.; Roth, J. Pharmacological chaperone corrects lysosomal storage in Fabrydisease caused by trafficking-incompetent variants. Am. J. Physiol.Cell Physiol., 2006, 290(4), C1076-1082.
69. Ishii, S.; Yoshioka, H.; Mannen, K.; Kulkarni, A. B.; Fan, J. Q. Transgenic mouse expressing human mutant alpha-galactosidase Ain an endogenous enzyme deficient background: a biochemicalanimal model for studying active-site specific chaperone therapyfor Fabry disease. Biochim. Biophys. Acta, 2004, 1690(3), 250-257.
70. Ishii, S.; Chang, H. H.; Yoshioka, H.; Shimada, T.; Mannen, K.; Higuchi, Y.; Taguchi, A.; Fan, J. Q. Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. J. Pharmacol.Exp. Ther., 2009, 328(3), 723-731.
71. Shin, S. H.; Kluepfel-Stahl, S.; Cooney, A. M.; Kaneski, C. R.; Quirk, J. M.; Schiffmann, R.; Brady, R.O.; Murray, G.J. Predictionof response of mutated alpha-galactosidase A to a pharmacologicalchaperone. Pharmacogenet. Genomics, 2008, 18(9), 773-780.
72. Fan, J. Q.; Ishii, S. Active-site-specific chaperone therapy for Fabrydisease. Yin and Yang of enzyme inhibitors. FEBS J., 2007,274(19), 4962-4971.
73. Benjamin, E. R.; Flanagan, J. J.; Schilling, A.; Chang, H. H.; Agarwal, L.; Katz, E.; Wu, X.; Pine, C.; Wustman, B.; Desnick, R.J.; Lockhart, D. J.; Valenzano, K. J. The pharmacological chaperone1-deoxygalactonojirimycin increases alpha-galactosidase Alevels in Fabry patient cell lines. J. Inherit. Metab. Dis., 2009,32(3), 424-440.
74. Park, J. Y.; Kim, G. H.; Kim, S. S.; Ko, J. M.; Lee, J. J.; Yoo, H.W. Effects of a chemical chaperone on genetic mutations in alphagalactosidaseA in Korean patients with Fabry disease. Exp. Mol.Med., 2009, 41(1), 1-7.
75. Medin, J. A.; Tudor, M.; Simovitch, R.; Quirk, J. M.; Jacobson, S.; Murray, G. J.; Brady, R. O. Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector.Proc. Natl. Acad. Sci. USA, 1996, 93(15), 7917-7922.
76. Jung, S.C.; Han, I. P.; Limaye, A.; Xu, R.; Gelderman, M. P.; Zerfas, P.; Tirumalai, K.; Murray, G. J.; During, M. J.; Brady, R.O.; Qasba, P. Adeno-associated viral vector-mediated gene transferresults in long-term enzymatic and functional correction in multipleorgans of Fabry mice. Proc. Natl. Acad. Sci. USA, 2001, 98(5),2676-2681.
77. Takahashi, H.; Hirai, Y.; Migita, M.; Seino, Y.; Fukuda, Y.; Sakuraba, H.; Kase, R.; Kobayashi, T.; Hashimoto, Y.; Shimada, T. Long-term systemic therapy of Fabry disease in a knockout mouseby adeno-associated virus-mediated muscle-directed gene transfer. Proc. Natl. Acad. Sci. USA, 2002, 99(21), 13777-13782.
78. Park, J.; Murray, G. J.; Limaye, A.; Quirk, J. M.; Gelderman, M.P.; Brady, R. O.; Qasba, P. Long-term correction of globotriaosylceramidestorage in Fabry mice by recombinant adenoassociatedvirus-mediated gene transfer. Proc. Natl. Acad. Sci. USA, 2003,100(6), 3450-3454.
79. Li, C.; Ziegler, R. J.; Cherry, M.; Lukason, M.; Desnick, R. J.; Yew, N. S.; Cheng, S. H. Adenovirus-transduced lung as a portalfor delivering alpha-galactosidase A into systemic circulation forFabry disease. Mol. Ther., 2002, 5(6), 745-754.
80. Nakamura, G.; Maruyama, H.; Ishii, S.; Shimotori, M.; Kameda, S.; Kono, T.; Miyazaki, J.; Kulkarni, A. B.; Gejyo, F. Naked plasmid DNA-based alpha-galactosidase A gene transfer partially reducessystemic accumulation of globotriaosylceramide in Fabrymice. Mol. Biotechnol., 2008, 38(2), 109-119.
81. Ogawa, K.; Hirai, Y.; Ishizaki, M.; Takahashi, H.; Hanawa, H.; Fukunaga, Y.; Shimada, T. Long-term inhibition of glycosphingolipidaccumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period. Mol. Genet. Metab.,2009, 96(3), 91-96.
82. Yoshimitsu, M.; Sato, T.; Tao, K.; Walia, J. S.; Rasaiah, V. I.; Sleep, G. T.; Murray, G. J.; Poeppl, A. G.; Underwood, J.; West, L.; Brady, R. O.; Medin, J. A. Bioluminescent imaging of a markingtransgene and correction of Fabry mice by neonatal injection ofrecombinant lentiviral vectors. Proc. Natl. Acad. Sci. USA, 2004,101(48), 16909-16914.