메뉴 건너뛰기




Volumn 1277, Issue , 2005, Pages 19-31

The blood-brain barrier and treatment of lysosomal storage diseases

Author keywords

Blood brain barrier; Lysosome; Neuropathology; Storage; Therapy

Indexed keywords


EID: 33646568503     PISSN: 05315131     EISSN: None     Source Type: Book Series    
DOI: 10.1016/j.ics.2005.02.009     Document Type: Article
Times cited : (4)

References (43)
  • 1
    • 77049229661 scopus 로고
    • Tissue fractionation studies. Intracellular distribution patterns of enzymes in rat liver tissue
    • De Duve C., et al. Tissue fractionation studies. Intracellular distribution patterns of enzymes in rat liver tissue. Biochem. J. 60 (1955) 604-617
    • (1955) Biochem. J. , vol.60 , pp. 604-617
    • De Duve, C.1
  • 2
    • 0028232681 scopus 로고
    • Biogenesis of lysosomal membranes
    • Peters C., and von Figura K. Biogenesis of lysosomal membranes. FEBS Lett. 346 (1994) 108-114
    • (1994) FEBS Lett. , vol.346 , pp. 108-114
    • Peters, C.1    von Figura, K.2
  • 4
    • 0027181075 scopus 로고
    • Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease
    • Aerts J.M., et al. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J. Inherit. Metab. Dis. 16 (1993) 288-291
    • (1993) J. Inherit. Metab. Dis. , vol.16 , pp. 288-291
    • Aerts, J.M.1
  • 5
    • 0031039858 scopus 로고    scopus 로고
    • Synthesis, sorting and processing into distinct isoforms of human macrophage chitotriosidase
    • Renkema G.H., et al. Synthesis, sorting and processing into distinct isoforms of human macrophage chitotriosidase. Eur. J. Biochem. 244 (1997) 279-285
    • (1997) Eur. J. Biochem. , vol.244 , pp. 279-285
    • Renkema, G.H.1
  • 6
    • 0026424625 scopus 로고
    • Mannose-6-phosphate independent membrane association and maturation of cathepsin D, glucocerebrosidase and sphingolipid-activating protein in HepG2 cells
    • Rijnboutt S., et al. Mannose-6-phosphate independent membrane association and maturation of cathepsin D, glucocerebrosidase and sphingolipid-activating protein in HepG2 cells. J. Biol. Chem. 266 (1991) 4862-4868
    • (1991) J. Biol. Chem. , vol.266 , pp. 4862-4868
    • Rijnboutt, S.1
  • 7
    • 0025826050 scopus 로고
    • Lysosomal storage disorders
    • Neufeld E.F. Lysosomal storage disorders. Annu. Rev. Biochem. 60 (1991) 257-280
    • (1991) Annu. Rev. Biochem. , vol.60 , pp. 257-280
    • Neufeld, E.F.1
  • 8
    • 0028962656 scopus 로고
    • Lysosomal storage diseases
    • Gieselmann V. Lysosomal storage diseases. Biochim. Biophys. Acta 1270 (1995) 103-136
    • (1995) Biochim. Biophys. Acta , vol.1270 , pp. 103-136
    • Gieselmann, V.1
  • 9
    • 2942687937 scopus 로고    scopus 로고
    • The cell biology of lysosomal storage disorders
    • Futerman A.H., and van Meer G. The cell biology of lysosomal storage disorders. Nat. Rev., Mol. Cell Biol. 5 (2004) 554-565
    • (2004) Nat. Rev., Mol. Cell Biol. , vol.5 , pp. 554-565
    • Futerman, A.H.1    van Meer, G.2
  • 10
    • 0032780351 scopus 로고    scopus 로고
    • The frequency of lysosomal storage diseases in The Netherlands
    • Poorthuis B.J.H.M., et al. The frequency of lysosomal storage diseases in The Netherlands. Hum. Genet. 105 (1999) 151-156
    • (1999) Hum. Genet. , vol.105 , pp. 151-156
    • Poorthuis, B.J.H.M.1
  • 11
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle P.F., et al. Prevalence of lysosomal storage disorders. JAMA 281 (1999) 249-254
    • (1999) JAMA , vol.281 , pp. 249-254
    • Meikle, P.F.1
  • 12
    • 0031409125 scopus 로고    scopus 로고
    • Molecular background of Finnish disease heritage
    • Peltonen L. Molecular background of Finnish disease heritage. Ann. Med. 29 (1997) 553-556
    • (1997) Ann. Med. , vol.29 , pp. 553-556
    • Peltonen, L.1
  • 15
    • 0013927537 scopus 로고
    • Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
    • Brady R.O., et al. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J. Clin. Invest. 45 (1966) 1112-1115
    • (1966) J. Clin. Invest. , vol.45 , pp. 1112-1115
    • Brady, R.O.1
  • 16
    • 0001973683 scopus 로고
    • A deficiency of glucocerebrosidase in Gaucher's disease
    • Patrick A.D. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem. J. 97 (1965) 17c-18c
    • (1965) Biochem. J. , vol.97
    • Patrick, A.D.1
  • 17
    • 0027411566 scopus 로고
    • Role of pH in determining the cell-type specific residual activity of glucocerebrosidase in type 1 Gaucher disease
    • Van Weely S., et al. Role of pH in determining the cell-type specific residual activity of glucocerebrosidase in type 1 Gaucher disease. J. Clin. Invest. 91 (1993) 1167-1175
    • (1993) J. Clin. Invest. , vol.91 , pp. 1167-1175
    • Van Weely, S.1
  • 18
    • 0027181075 scopus 로고
    • Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease
    • Aerts J.M., et al. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J. Inherit. Metab. Dis. 16 (1993) 288-291
    • (1993) J. Inherit. Metab. Dis. , vol.16 , pp. 288-291
    • Aerts, J.M.1
  • 19
    • 0031436478 scopus 로고    scopus 로고
    • Gaucher's disease: clinical features and natural history
    • Cox T.M., and Schofield J.P. Gaucher's disease: clinical features and natural history. Bailliere's Clin. Haematol. 10 (1997) 657-689
    • (1997) Bailliere's Clin. Haematol. , vol.10 , pp. 657-689
    • Cox, T.M.1    Schofield, J.P.2
  • 20
    • 1842834057 scopus 로고    scopus 로고
    • Twin pairs showing discordance of phenotype in adult Gaucher's disease
    • Lachmann R.H., et al. Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM 97 (2004) 199-204
    • (2004) QJM , vol.97 , pp. 199-204
    • Lachmann, R.H.1
  • 21
    • 0031464244 scopus 로고    scopus 로고
    • Plasma and metabolic abnormalities in Gaucher's disease
    • Aerts J.M., and Hollak C.E. Plasma and metabolic abnormalities in Gaucher's disease. Bailliere's Clin. Haematol. 10 (1997) 691-709
    • (1997) Bailliere's Clin. Haematol. , vol.10 , pp. 691-709
    • Aerts, J.M.1    Hollak, C.E.2
  • 22
    • 0035157905 scopus 로고    scopus 로고
    • Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
    • Cox T.M. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J. Inherit. Metab. Dis. 24 Suppl. 2 (2001) 106-121
    • (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.SUPPL. 2 , pp. 106-121
    • Cox, T.M.1
  • 23
    • 9144222696 scopus 로고    scopus 로고
    • Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
    • Boot R.G., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 103 (2004) 33-39
    • (2004) Blood , vol.103 , pp. 33-39
    • Boot, R.G.1
  • 24
    • 4344593367 scopus 로고    scopus 로고
    • Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
    • Boven L.A., et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am. J. Clin. Pathol. 122 (2004) 359-369
    • (2004) Am. J. Clin. Pathol. , vol.122 , pp. 359-369
    • Boven, L.A.1
  • 25
    • 0034284271 scopus 로고    scopus 로고
    • Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K
    • Moran M.T., et al. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 96 (2000) 1969-1978
    • (2000) Blood , vol.96 , pp. 1969-1978
    • Moran, M.T.1
  • 26
    • 0028921786 scopus 로고
    • Ten years' experience of bone marrow transplantation for Gaucher disease
    • Ringden O., et al. Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 56 (1995) 864-870
    • (1995) Transplantation , vol.56 , pp. 864-870
    • Ringden, O.1
  • 27
    • 0035261138 scopus 로고    scopus 로고
    • Clinical gene therapy in hematology: past and future
    • Richter J., and Karlsson S. Clinical gene therapy in hematology: past and future. Int. J. Hematol. 73 (2001) 162-169
    • (2001) Int. J. Hematol. , vol.73 , pp. 162-169
    • Richter, J.1    Karlsson, S.2
  • 28
    • 0035153479 scopus 로고    scopus 로고
    • Lessons learned from the development of enzyme therapy for Gaucher disease
    • Barranger J.A., and O'Rourke E. Lessons learned from the development of enzyme therapy for Gaucher disease. J. Inherit. Metab. Dis. 24 Suppl. 2 (2001) 89-96
    • (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.SUPPL. 2 , pp. 89-96
    • Barranger, J.A.1    O'Rourke, E.2
  • 29
    • 0344947889 scopus 로고    scopus 로고
    • Mannose receptor and its putative ligands in normal murine lymphoid and nonlymphoid organs. In situ expression of mannose receptor by selected macrophages, endothelial cells, perivascular microglia and mesanglial cells, but not dendritic cells
    • Linehan S.A., et al. Mannose receptor and its putative ligands in normal murine lymphoid and nonlymphoid organs. In situ expression of mannose receptor by selected macrophages, endothelial cells, perivascular microglia and mesanglial cells, but not dendritic cells. J. Exp. Med. 189 (1999) 1961-1972
    • (1999) J. Exp. Med. , vol.189 , pp. 1961-1972
    • Linehan, S.A.1
  • 30
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • Barton N.W., et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 87 (1990) 1913-1916
    • (1990) Proc. Natl. Acad. Sci. U. S. A. , vol.87 , pp. 1913-1916
    • Barton, N.W.1
  • 31
    • 0028883136 scopus 로고
    • Enzyme therapy in type 1 Gaucher disease: comparitive efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
    • Grabowski G.A., et al. Enzyme therapy in type 1 Gaucher disease: comparitive efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Intern. Med. 122 (1995) 33-39
    • (1995) Ann. Intern. Med. , vol.122 , pp. 33-39
    • Grabowski, G.A.1
  • 32
    • 0035152456 scopus 로고    scopus 로고
    • Remaining problems in the management of patient with Gaucher disease
    • Eriksson A. Remaining problems in the management of patient with Gaucher disease. J. Inherit. Metab. Dis. 24 Suppl. 2 (2001) 122-126
    • (2001) J. Inherit. Metab. Dis. , vol.24 , Issue.SUPPL. 2 , pp. 122-126
    • Eriksson, A.1
  • 33
    • 0028176432 scopus 로고
    • N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
    • Platt F.M., et al. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem. 269 (1994) 8362-8365
    • (1994) J. Biol. Chem. , vol.269 , pp. 8362-8365
    • Platt, F.M.1
  • 34
    • 0034728914 scopus 로고    scopus 로고
    • Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis
    • Cox T., et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT918) to decrease substrate biosynthesis. Lancet 355 (2000) 1481-1485
    • (2000) Lancet , vol.355 , pp. 1481-1485
    • Cox, T.1
  • 35
    • 10744226382 scopus 로고    scopus 로고
    • The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement
    • Cox T.M., et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J. Inherit. Metab. Dis. 26 (2003) 513-526
    • (2003) J. Inherit. Metab. Dis. , vol.26 , pp. 513-526
    • Cox, T.M.1
  • 36
    • 3242681806 scopus 로고    scopus 로고
    • Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in mouse model of Sandhoff disease
    • Andersson U., et al. Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in mouse model of Sandhoff disease. Neurobiol. Dis. 16 (2004) 506-515
    • (2004) Neurobiol. Dis. , vol.16 , pp. 506-515
    • Andersson, U.1
  • 37
    • 15644367080 scopus 로고    scopus 로고
    • Generation of specific deoxynijirimycin-type inhibitors of the non-lysosomal glucosylceramidase
    • Overkleeft H.S., et al. Generation of specific deoxynijirimycin-type inhibitors of the non-lysosomal glucosylceramidase. J. Biol. Chem. 273 (1998) 26522-26527
    • (1998) J. Biol. Chem. , vol.273 , pp. 26522-26527
    • Overkleeft, H.S.1
  • 38
    • 0034862164 scopus 로고    scopus 로고
    • Agents for the treatment of glycosphingolipid storage disorders
    • Abe A., et al. Agents for the treatment of glycosphingolipid storage disorders. Curr. Drug Metab. 2 (2001) 331-338
    • (2001) Curr. Drug Metab. , vol.2 , pp. 331-338
    • Abe, A.1
  • 39
    • 1642481152 scopus 로고    scopus 로고
    • New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases
    • Butters T.D., Dwek R.A., and Platt F.M. New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Adv. Exp. Med. Biol. 535 (2003) 219-226
    • (2003) Adv. Exp. Med. Biol. , vol.535 , pp. 219-226
    • Butters, T.D.1    Dwek, R.A.2    Platt, F.M.3
  • 40
    • 2942577575 scopus 로고    scopus 로고
    • Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis
    • Shen C., et al. Inhibition of glycolipid biosynthesis by N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin protects against the inflammatory response in hapten-induced colitis. Int. Immunopharmacol. 4 (2004) 939-951
    • (2004) Int. Immunopharmacol. , vol.4 , pp. 939-951
    • Shen, C.1
  • 41
    • 2942563944 scopus 로고    scopus 로고
    • Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice
    • Wu Y.P., and Proia R.L. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 8425-8430
    • (2004) Proc. Natl. Acad. Sci. U. S. A. , vol.101 , pp. 8425-8430
    • Wu, Y.P.1    Proia, R.L.2
  • 42
    • 2142758743 scopus 로고    scopus 로고
    • Blood to brain to the rescue
    • Proia R.L., and Wu Y.P. Blood to brain to the rescue. J. Clin. Invest. 113 (2004) 1108-1110
    • (2004) J. Clin. Invest. , vol.113 , pp. 1108-1110
    • Proia, R.L.1    Wu, Y.P.2
  • 43
    • 0037093476 scopus 로고    scopus 로고
    • Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
    • Myerowitz R., et al. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum. Mol. Genet. 11 (2002) 1343-1350
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1343-1350
    • Myerowitz, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.