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Ресурс РМЭБ
Единая база данных, объединяющая электронные ресурсы вузов Казахстана
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Лечение лизосомных болезней накопления
УДК:
616-053.2
Автор статьи:
Захарова Е.Ю.
Место работы автора:
ГУ Медико-генетический научный центр РАМН, Москва, Россия
Название журнала:
Педиатрия и детская хирургия
Год выпуска:
2010
Номер журнала:
4(62)
Страницы:
с.49-53
Список литературы:
1. Краснопольская КД «Наследственные болезни обмена веществ», Москва, 2005г
2. Aiuti A, Ficara F, Cattaneo F et al Gene therapy for adenosine deaminase deficiency. Curr Opin Allergy Clin Immunol 2003-v.3-p.461- 466
3. Anu R. Sawkar, Wei-Chieh Cheng, Ernest Beutler, Chemical chaperones increase the cellular activity ofN370S glucosidase: A therapeutic strategy for Gaucher disease PNAS, 2002-vol. 99- p.15428-15433
4. Baldellou A, Andria G, Campbell PE et al Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 2004-v.163-p.67-75
5. Barton, N. W., Furbish, F. S., Murray, G. J., Garfield, M. & Brady, R. O. Therapeutic response to intravenous infusions nof glucocerebrosidase in a patient with Gaucher disease. Proc. Natl Acad. Sci. USA 1990-v.87-p.1913-1916
6. Bijvoet, A. G. et al. Human acid a-glucosidase from rabbit milk has therapeutic7. Brady, R. 0., Pentchev, P. G., Gal, et al Replacement therapy for inherited enzyme deficiency: use of purified glucocerebrosidase in Gaucher's disease. N. Engl. J. Med 1974-v. 291-p. 989-993
8. Butters, T.D., Dwek, R.A., and Piatt, F.M. New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Adv. Exp. Med. Biol., 2003-v. 535-p.219-226
9. Cabrera-Salazar, M. A., Novelli, E. & Barranger, J. A. Genetherapy for the lysosomal storage disorders. Curr. Opin. Mol. Ther. 2002-v.4-p.349-358
10. Charrow J, Esplin JA, Gribble TJ etal Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998-v.158-p.1754-1760
11. Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. 2008 -v.9-p.311-7
12. Cramer, C. L. et al. Bioproduction of human enzymes in transgenic tobacco. Am. NY Acad. Sci. 1996-V.792-p.62-71.
13. de Duve, C. From cytases to lysosomes. Fed. Proc. 1964-v.23-p.1045
14. El Dib RP, Pastores GM. Laronidase for treating mucopolysaccharidosis type I. Genet Mol Res. 2007-v.6-p.667-74
15. Eng CM, Guffon N, Wilcox WRet al Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 2001-v.345-p.9-16
16. Escolar ML, Рое MD, Provenzale JM etal Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 2005-v.352-p.2069-2081
17. Fan JQ, Ishii S, Asano N, Suzuki Y Accelerated transport and a maturation of lysosomal a-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. NatureMed 1999-v.5-p.112-115
18. Grabowski GA, Andria G, Baldellou A etal Pediatric nonneuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004 - v.163-p.58-66
19. Harmatz P, Giugliani R, Schwartz I, MPS VI Phase 3 Study Group et all. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase В or rhASB) and follow-on, open-label extension study. J Pediatr. 2006-V.148- p.533-539.
20. Heitner, R., Elstein, D., Aerts, J., van Weely, S., and Zimran, A. Low-dose N butyldeoxynojirimycin (OGT918) for type I Gaucher disease. Blood Cells Mol. Dis., 2002-v.28-p.127-133
21. Hobbs JR, Hugh-Jones K, Barrett AJ et al . Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981- v.2- p.709- 712
22. Jeyakumar, M., Butters, T.D., Dwek, R.A., and Piatt, F.M. () Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol. Appl. Neurobiol., 2002-v.28-p.343-357
23. Kim U Genetically engineered human neural stem cells for brain repair in neurological diseases Brain & Development 2007-v.29-p.193-201
24. Kornfeld, S. Lysosomal enzyme targeting. Biochem. Soc.Trans. 1990-v.18-p. 367-374
25. Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA. 2003-v.100-p.15912-15917
26. Meikle, P. J., Hopwood, J. J., Clague, A. E. & Carey, W. F. Prevalence of lysosomal storage disorders. JAMA 1999-V.281- p.249-254
27. Meng XL, Shen JS, Ohashi T, Maeda H et al. Brain transplantation of genetically engineered human neural stem cells transduced with beta-glucuronidase globally corrects lysosomal storage and brain lesions in mucopolysaccharidosis VII mice. J Neurosci Res 2003-v.74-p.266-77.
28. Rohrbach M, Clarke JT. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs. 2007- v.67- p.2697-716
29. Rossi M, Parenti G, Delia Casa R et al Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol. 2007-v.22-p.565-73
30. Sauer M, Grewal S, Peters С Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies. Klin Padiatr 2004- v.216-p.163-168
31. Sawkar, A.R., Cheng, W.C., Beutler, E., Chemical chaperones increase the cellular activity of N370S beta-glucosi-dase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. U. S. A., 2002-v.99-p.15428-15433
32. Schiffmann R, Kopp JB, Austin HA, III et al Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001-v.285-p.2743-2749,
33. Scriver, C. R. et al. (eds) The Metabolic and Molecular Bases of Inherited Diseases (McGraw-Hill), New York, 2001
34. Staba SL, Escolar ML, Рое M et al Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004-V.350- p.1960-1969
35. Vellodi A, Bembi B, de Villemeur ТВ et al Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001 - v.24-p.319-327
36. Weisstein JS, Delgado E, Steinbach LS et al Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004-V.24- p.97-101
37. Yam, G.H., Zuber, C., and Roth, J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J., 2005-v.19-p.12-18
1. Краснопольская КД «Наследственные болезни обмена веществ», Москва, 2005г
2. Aiuti A, Ficara F, Cattaneo F et al Gene therapy for adenosine deaminase deficiency. Curr Opin Allergy Clin Immunol 2003-v.3-p.461- 466
3. Anu R. Sawkar, Wei-Chieh Cheng, Ernest Beutler, Chemical chaperones increase the cellular activity ofN370S glucosidase: A therapeutic strategy for Gaucher disease PNAS, 2002-vol. 99- p.15428-15433
4. Baldellou A, Andria G, Campbell PE et al Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 2004-v.163-p.67-75
5. Barton, N. W., Furbish, F. S., Murray, G. J., Garfield, M. & Brady, R. O. Therapeutic response to intravenous infusions nof glucocerebrosidase in a patient with Gaucher disease. Proc. Natl Acad. Sci. USA 1990-v.87-p.1913-1916
6. Bijvoet, A. G. et al. Human acid a-glucosidase from rabbit milk has therapeutic7. Brady, R. 0., Pentchev, P. G., Gal, et al Replacement therapy for inherited enzyme deficiency: use of purified glucocerebrosidase in Gaucher's disease. N. Engl. J. Med 1974-v. 291-p. 989-993
8. Butters, T.D., Dwek, R.A., and Piatt, F.M. New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Adv. Exp. Med. Biol., 2003-v. 535-p.219-226
9. Cabrera-Salazar, M. A., Novelli, E. & Barranger, J. A. Genetherapy for the lysosomal storage disorders. Curr. Opin. Mol. Ther. 2002-v.4-p.349-358
10. Charrow J, Esplin JA, Gribble TJ etal Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998-v.158-p.1754-1760
11. Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. 2008 -v.9-p.311-7
12. Cramer, C. L. et al. Bioproduction of human enzymes in transgenic tobacco. Am. NY Acad. Sci. 1996-V.792-p.62-71.
13. de Duve, C. From cytases to lysosomes. Fed. Proc. 1964-v.23-p.1045
14. El Dib RP, Pastores GM. Laronidase for treating mucopolysaccharidosis type I. Genet Mol Res. 2007-v.6-p.667-74
15. Eng CM, Guffon N, Wilcox WRet al Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 2001-v.345-p.9-16
16. Escolar ML, Рое MD, Provenzale JM etal Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 2005-v.352-p.2069-2081
17. Fan JQ, Ishii S, Asano N, Suzuki Y Accelerated transport and a maturation of lysosomal a-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. NatureMed 1999-v.5-p.112-115
18. Grabowski GA, Andria G, Baldellou A etal Pediatric nonneuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004 - v.163-p.58-66
19. Harmatz P, Giugliani R, Schwartz I, MPS VI Phase 3 Study Group et all. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase В or rhASB) and follow-on, open-label extension study. J Pediatr. 2006-V.148- p.533-539.
20. Heitner, R., Elstein, D., Aerts, J., van Weely, S., and Zimran, A. Low-dose N butyldeoxynojirimycin (OGT918) for type I Gaucher disease. Blood Cells Mol. Dis., 2002-v.28-p.127-133
21. Hobbs JR, Hugh-Jones K, Barrett AJ et al . Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981- v.2- p.709- 712
22. Jeyakumar, M., Butters, T.D., Dwek, R.A., and Piatt, F.M. () Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol. Appl. Neurobiol., 2002-v.28-p.343-357
23. Kim U Genetically engineered human neural stem cells for brain repair in neurological diseases Brain & Development 2007-v.29-p.193-201
24. Kornfeld, S. Lysosomal enzyme targeting. Biochem. Soc.Trans. 1990-v.18-p. 367-374
25. Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA. 2003-v.100-p.15912-15917
26. Meikle, P. J., Hopwood, J. J., Clague, A. E. & Carey, W. F. Prevalence of lysosomal storage disorders. JAMA 1999-V.281- p.249-254
27. Meng XL, Shen JS, Ohashi T, Maeda H et al. Brain transplantation of genetically engineered human neural stem cells transduced with beta-glucuronidase globally corrects lysosomal storage and brain lesions in mucopolysaccharidosis VII mice. J Neurosci Res 2003-v.74-p.266-77.
28. Rohrbach M, Clarke JT. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs. 2007- v.67- p.2697-716
29. Rossi M, Parenti G, Delia Casa R et al Long-term enzyme replacement therapy for Pompe disease with recombinant human alpha-glucosidase derived from Chinese hamster ovary cells. J Child Neurol. 2007-v.22-p.565-73
30. Sauer M, Grewal S, Peters С Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies. Klin Padiatr 2004- v.216-p.163-168
31. Sawkar, A.R., Cheng, W.C., Beutler, E., Chemical chaperones increase the cellular activity of N370S beta-glucosi-dase: a therapeutic strategy for Gaucher disease. Proc. Natl. Acad. Sci. U. S. A., 2002-v.99-p.15428-15433
32. Schiffmann R, Kopp JB, Austin HA, III et al Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001-v.285-p.2743-2749,
33. Scriver, C. R. et al. (eds) The Metabolic and Molecular Bases of Inherited Diseases (McGraw-Hill), New York, 2001
34. Staba SL, Escolar ML, Рое M et al Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004-V.350- p.1960-1969
35. Vellodi A, Bembi B, de Villemeur ТВ et al Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001 - v.24-p.319-327
36. Weisstein JS, Delgado E, Steinbach LS et al Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop 2004-V.24- p.97-101
37. Yam, G.H., Zuber, C., and Roth, J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J., 2005-v.19-p.12-18
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