메뉴 건너뛰기




Volumn 20, Issue , 2011, Pages

Combination therapies for lysosomal storage disease: Is the whole greater than the sum of its parts?

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME;

EID: 79956023383     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr112     Document Type: Article
Times cited : (54)

References (85)
  • 2
    • 0033585476 scopus 로고    scopus 로고
    • Prevalence of lysosomal storage disorders
    • Meikle, P.J., Hopwood, J.J., Clague, A.E. and Carey, W.F. (1999) Prevalence of lysosomal storage disorders. JAMA, 281, 249-254.
    • (1999) JAMA , vol.281 , pp. 249-254
    • Meikle, P.J.1    Hopwood, J.J.2    Clague, A.E.3    Carey, W.F.4
  • 3
    • 0036220093 scopus 로고    scopus 로고
    • Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey
    • Dionisi-Vici, C., Rizzo, C., Burlina, A.B., Caruso, U., Sabetta, G., Uziel, G. and Abeni, D. (2002) Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J. Pediatr., 140, 321-327.
    • (2002) J. Pediatr. , vol.140 , pp. 321-327
    • Dionisi-Vici, C.1    Rizzo, C.2    Burlina, A.B.3    Caruso, U.4    Sabetta, G.5    Uziel, G.6    Abeni, D.7
  • 4
    • 0033631258 scopus 로고    scopus 로고
    • Incidence of inborn errors of metabolism in British Columbia, 1969-1996
    • Applegarth, D.A., Toone, J.R. and Lowry, R.B. (2000) Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics, 105, e10.
    • (2000) Pediatrics , vol.105
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 8
    • 38849146956 scopus 로고    scopus 로고
    • ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
    • Wei, H., Kim, S.J., Zhang, Z., Tsai, P.C., Wisniewski, K.E. and Mukherjee, A.B. (2008) ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum. Mol. Genet., 17, 469-477.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 469-477
    • Wei, H.1    Kim, S.J.2    Zhang, Z.3    Tsai, P.C.4    Wisniewski, K.E.5    Mukherjee, A.B.6
  • 10
    • 0023521783 scopus 로고
    • Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis
    • Koenig, M.L., Jope, R.S., Baker, H.J. and Lally, K.M. (1987) Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis. Brain Res., 424, 169-176.
    • (1987) Brain Res , vol.424 , pp. 169-176
    • Koenig, M.L.1    Jope, R.S.2    Baker, H.J.3    Lally, K.M.4
  • 11
    • 44749084730 scopus 로고    scopus 로고
    • Mitochondrial Ca2+ homeostasis in lysosomal storage diseases
    • Kiselyov, K. and Muallem, S. (2008) Mitochondrial Ca2+ homeostasis in lysosomal storage diseases. Cell Calcium, 44, 103-111.
    • (2008) Cell Calcium , vol.44 , pp. 103-111
    • Kiselyov, K.1    Muallem, S.2
  • 12
    • 29144444023 scopus 로고    scopus 로고
    • Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease
    • Ginzburg, L. and Futerman, A.H. (2005) Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease. J. Neurochem., 95, 1619-1628.
    • (2005) J. Neurochem. , vol.95 , pp. 1619-1628
    • Ginzburg, L.1    Futerman, A.H.2
  • 15
    • 0023371670 scopus 로고
    • Abnormalities of cellular immunity and natural killer cells in Gaucher's disease
    • Burstein, Y., Zakuth, V., Rechavi, G. and Spirer, Z. (1987) Abnormalities of cellular immunity and natural killer cells in Gaucher's disease. J. Clin. Lab. Immunol., 23, 149-151.
    • (1987) J. Clin. Lab. Immunol. , vol.23 , pp. 149-151
    • Burstein, Y.1    Zakuth, V.2    Rechavi, G.3    Spirer, Z.4
  • 16
    • 0034094433 scopus 로고    scopus 로고
    • Abnormal immune function in vivo in a murine model of lysosomal storage disease
    • Daly, T.M., Lorenz, R.G. and Sands, M.S. (2000) Abnormal immune function in vivo in a murine model of lysosomal storage disease. Pediatr. Res., 47, 757-762.
    • (2000) Pediatr. Res. , vol.47 , pp. 757-762
    • Daly, T.M.1    Lorenz, R.G.2    Sands, M.S.3
  • 17
    • 0029146242 scopus 로고
    • Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
    • Shapiro, E.G., Lockman, L.A., Balthazor, M. and Krivit, W. (1995) Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis., 18, 413-429.
    • (1995) J. Inherit. Metab. Dis. , vol.18 , pp. 413-429
    • Shapiro, E.G.1    Lockman, L.A.2    Balthazor, M.3    Krivit, W.4
  • 18
    • 0032693385 scopus 로고    scopus 로고
    • Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome
    • Krivit, W., Aubourg, P., Shapiro, E. and Peters, C. (1999) Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr. Opin. Hematol., 6, 377-382.
    • (1999) Curr. Opin. Hematol. , vol.6 , pp. 377-382
    • Krivit, W.1    Aubourg, P.2    Shapiro, E.3    Peters, C.4
  • 19
    • 0032941197 scopus 로고    scopus 로고
    • Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III
    • Krivit, W., Peters, C. and Shapiro, E.G. (1999) Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol., 12, 167-176.
    • (1999) Curr. Opin. Neurol. , vol.12 , pp. 167-176
    • Krivit, W.1    Peters, C.2    Shapiro, E.G.3
  • 20
    • 0036362937 scopus 로고    scopus 로고
    • Stem cell bone marrow transplantation in patients with metabolic storage diseases
    • Krivit, W. (2002) Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv. Pediatr., 49, 359-378.
    • (2002) Adv. Pediatr. , vol.49 , pp. 359-378
    • Krivit, W.1
  • 21
    • 0014352329 scopus 로고
    • Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts
    • Fratantoni, J.C., Hall, C.W. and Neufeld, E.F. (1968) Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science, 162, 570-572.
    • (1968) Science , vol.162 , pp. 570-572
    • Fratantoni, J.C.1    Hall, C.W.2    Neufeld, E.F.3
  • 22
    • 0014939802 scopus 로고
    • Inborn errors of mucopolysaccharide metabolism
    • Neufeld, E.F. and Fratantoni, J.C. (1970) Inborn errors of mucopolysaccharide metabolism. Science, 169, 141-146.
    • (1970) Science , vol.169 , pp. 141-146
    • Neufeld, E.F.1    Fratantoni, J.C.2
  • 26
    • 0347286954 scopus 로고    scopus 로고
    • Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease
    • Jin, H.K. and Schuchman, E.H. (2003) Ex vivo gene therapy using bone marrow-derived cells: combined effects of intracerebral and intravenous transplantation in a mouse model of Niemann-Pick disease. Mol. Ther., 8, 876-885.
    • (2003) Mol. Ther. , vol.8 , pp. 876-885
    • Jin, H.K.1    Schuchman, E.H.2
  • 27
    • 0033758952 scopus 로고    scopus 로고
    • Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease
    • Miranda, S.R., Erlich, S., Friedrich, V.L. Jr., Gatt, S. and Schuchman, E.H. (2000) Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease. Gene Ther., 7, 1768-1776.
    • (2000) Gene Ther , vol.7 , pp. 1768-1776
    • Miranda, S.R.1    Erlich, S.2    Friedrich Jr., V.L.3    Gatt, S.4    Schuchman, E.H.5
  • 28
    • 0027051181 scopus 로고
    • Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer
    • Wolfe, J.H., Sands, M.S., Barker, J.E., Gwynn, B., Rowe, L.B., Vogler, C.A. and Birkenmeier, E.H. (1992) Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer. Nature, 360, 749-753.
    • (1992) Nature , vol.360 , pp. 749-753
    • Wolfe, J.H.1    Sands, M.S.2    Barker, J.E.3    Gwynn, B.4    Rowe, L.B.5    Vogler, C.A.6    Birkenmeier, E.H.7
  • 29
    • 0345829915 scopus 로고    scopus 로고
    • Genetically modified NT2N human neuronal cells mediate long-term gene expression as CNS grafts in vivo and improve functional cognitive outcome following experimental traumatic brain injury
    • Watson, D.J., Longhi, L., Lee, E.B., Fulp, C.T., Fujimoto, S., Royo, N.C., Passini, M.A., Trojanowski, J.Q., Lee, V.M., McIntosh, T.K. et al. (2003) Genetically modified NT2N human neuronal cells mediate long-term gene expression as CNS grafts in vivo and improve functional cognitive outcome following experimental traumatic brain injury. J. Neuropathol. Exp. Neurol., 62, 368-380.
    • (2003) J. Neuropathol. Exp. Neurol. , vol.62 , pp. 368-380
    • Watson, D.J.1    Longhi, L.2    Lee, E.B.3    Fulp, C.T.4    Fujimoto, S.5    Royo, N.C.6    Passini, M.A.7    Trojanowski, J.Q.8    Lee, V.M.9    McIntosh, T.K.10
  • 30
    • 3042731837 scopus 로고    scopus 로고
    • Human CD34+ hematopoietic progenitor cell-directed lentiviral-mediated gene therapy in a xenotransplantation model of lysosomal storage disease
    • Hofling, A.A., Devine, S., Vogler, C. and Sands, M.S. (2004) Human CD34+ hematopoietic progenitor cell-directed lentiviral-mediated gene therapy in a xenotransplantation model of lysosomal storage disease. Mol. Ther., 9, 856-865.
    • (2004) Mol. Ther. , vol.9 , pp. 856-865
    • Hofling, A.A.1    Devine, S.2    Vogler, C.3    Sands, M.S.4
  • 33
    • 0034690714 scopus 로고    scopus 로고
    • Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer
    • Bosch, A., Perret, E., Desmaris, N., Trono, D. and Heard, J.M. (2000) Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer. Hum Gene Ther., 11, 1139-1150.
    • (2000) Hum Gene Ther , vol.11 , pp. 1139-1150
    • Bosch, A.1    Perret, E.2    Desmaris, N.3    Trono, D.4    Heard, J.M.5
  • 34
    • 33746874152 scopus 로고    scopus 로고
    • Adeno-associated virus serotypes: vector toolkit for human gene therapy
    • Wu, Z., Asokan, A. and Samulski, R.J. (2006) Adeno-associated virus serotypes: vector toolkit for human gene therapy. Mol. Ther., 14, 316-327.
    • (2006) Mol. Ther. , vol.14 , pp. 316-327
    • Wu, Z.1    Asokan, A.2    Samulski, R.J.3
  • 35
    • 0036113626 scopus 로고    scopus 로고
    • Targeted transduction patterns in the mouse brain by lentivirus vectors pseudotyped with VSV, Ebola, Mokola, LCMV, or MuLV envelope proteins
    • Watson, D.J., Kobinger, G.P., Passini, M.A., Wilson, J.M. and Wolfe, J.H. (2002) Targeted transduction patterns in the mouse brain by lentivirus vectors pseudotyped with VSV, Ebola, Mokola, LCMV, or MuLV envelope proteins. Mol. Ther., 5, 528-537.
    • (2002) Mol. Ther. , vol.5 , pp. 528-537
    • Watson, D.J.1    Kobinger, G.P.2    Passini, M.A.3    Wilson, J.M.4    Wolfe, J.H.5
  • 36
    • 33645861655 scopus 로고    scopus 로고
    • Gene therapy for lysosomal storage diseases
    • Sands, M.S. and Davidson, B.L. (2006) Gene therapy for lysosomal storage diseases. Mol. Ther., 13, 839-849.
    • (2006) Mol. Ther. , vol.13 , pp. 839-849
    • Sands, M.S.1    Davidson, B.L.2
  • 37
    • 0029836764 scopus 로고    scopus 로고
    • 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
    • Medin, J.A., Tudor, M., Simovitch, R., Quirk, J.M., Jacobson, S., Murray, G.J. and Brady, R.O. (1996) 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, 93, 7917-7922.
    • (1996) Proc. Natl Acad. Sci. USA , vol.93 , pp. 7917-7922
    • Medin, J.A.1    Tudor, M.2    Simovitch, R.3    Quirk, J.M.4    Jacobson, S.5    Murray, G.J.6    Brady, R.O.7
  • 38
    • 26644468009 scopus 로고    scopus 로고
    • Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology
    • Sano, R., Tessitore, A., Ingrassia, A. and d'Azzo, A. (2005) Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology. Blood, 106, 2259-2268.
    • (2005) Blood , vol.106 , pp. 2259-2268
    • Sano, R.1    Tessitore, A.2    Ingrassia, A.3    d'Azzo, A.4
  • 39
    • 0037369266 scopus 로고    scopus 로고
    • Engraftment of human CD34+ cells leads to widespread distribution of donor-derived cells and correction of tissue pathology in a novel murine xenotransplantation model of lysosomal storage disease
    • Hofling, A.A., Vogler, C., Creer, M.H. and Sands, M.S. (2003) Engraftment of human CD34+ cells leads to widespread distribution of donor-derived cells and correction of tissue pathology in a novel murine xenotransplantation model of lysosomal storage disease. Blood, 101, 2054-2063.
    • (2003) Blood , vol.101 , pp. 2054-2063
    • Hofling, A.A.1    Vogler, C.2    Creer, M.H.3    Sands, M.S.4
  • 40
    • 55049118090 scopus 로고    scopus 로고
    • Lentiviral-transduced human mesenchymal stem cells persistently express therapeutic levels of enzyme in a xenotransplantation model of human disease
    • Meyerrose, T.E., Roberts, M., Ohlemiller, K.K., Vogler, C.A., Wirthlin, L., Nolta, J.A. and Sands, M.S. (2008) Lentiviral-transduced human mesenchymal stem cells persistently express therapeutic levels of enzyme in a xenotransplantation model of human disease. Stem Cells, 26, 1713-1722.
    • (2008) Stem Cells , vol.26 , pp. 1713-1722
    • Meyerrose, T.E.1    Roberts, M.2    Ohlemiller, K.K.3    Vogler, C.A.4    Wirthlin, L.5    Nolta, J.A.6    Sands, M.S.7
  • 41
    • 0032212235 scopus 로고    scopus 로고
    • Long-term expression, systemic delivery, and macrophage uptake of recombinant human glucocerebrosidase in mice transplanted with genetically modified primary myoblasts
    • Liu, C., Dunigan, J.T., Watkins, S.C., Bahnson, A.B. and Barranger, J.A. (1998) Long-term expression, systemic delivery, and macrophage uptake of recombinant human glucocerebrosidase in mice transplanted with genetically modified primary myoblasts. Hum. Gene Ther., 9, 2375-2384.
    • (1998) Hum. Gene Ther. , vol.9 , pp. 2375-2384
    • Liu, C.1    Dunigan, J.T.2    Watkins, S.C.3    Bahnson, A.B.4    Barranger, J.A.5
  • 42
    • 0031670323 scopus 로고    scopus 로고
    • Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes
    • Liu, C., Bahnson, A.B., Dunigan, J.T., Watkins, S.C. and Barranger, J.A. (1998) Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes. J. Mol. Med., 76, 773-781.
    • (1998) J. Mol. Med. , vol.76 , pp. 773-781
    • Liu, C.1    Bahnson, A.B.2    Dunigan, J.T.3    Watkins, S.C.4    Barranger, J.A.5
  • 43
    • 0025287401 scopus 로고
    • Genes transferred by retroviral vectors into normal and mutant myoblasts in primary cultures are expressed in myotubes
    • Smith, B.F., Hoffman, R.K., Giger, U. and Wolfe, J.H. (1990) Genes transferred by retroviral vectors into normal and mutant myoblasts in primary cultures are expressed in myotubes. Mol. Cell. Biol., 10, 3268-3271.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 3268-3271
    • Smith, B.F.1    Hoffman, R.K.2    Giger, U.3    Wolfe, J.H.4
  • 45
    • 0032906299 scopus 로고    scopus 로고
    • Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice
    • Daly, T.M., Okuyama, T., Vogler, C., Haskins, M.E., Muzyczka, N. and Sands, M.S. (1999) Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice. Hum. Gene Ther., 10, 85-94.
    • (1999) Hum. Gene Ther. , vol.10 , pp. 85-94
    • Daly, T.M.1    Okuyama, T.2    Vogler, C.3    Haskins, M.E.4    Muzyczka, N.5    Sands, M.S.6
  • 46
    • 37549000936 scopus 로고    scopus 로고
    • Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle
    • Tessitore, A., Faella, A., O'Malley, T., Cotugno, G., Doria, M., Kunieda, T., Matarese, G., Haskins, M. and Auricchio, A. (2008) Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle. Mol. Ther., 16, 30-37.
    • (2008) Mol. Ther. , vol.16 , pp. 30-37
    • Tessitore, A.1    Faella, A.2    O'Malley, T.3    Cotugno, G.4    Doria, M.5    Kunieda, T.6    Matarese, G.7    Haskins, M.8    Auricchio, A.9
  • 47
    • 0033515007 scopus 로고    scopus 로고
    • Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease
    • Daly, T.M., Vogler, C., Levy, B., Haskins, M.E. and Sands, M.S. (1999) Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc. Natl Acad. Sci. USA, 96, 2296-2300.
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 2296-2300
    • Daly, T.M.1    Vogler, C.2    Levy, B.3    Haskins, M.E.4    Sands, M.S.5
  • 51
    • 0034824239 scopus 로고    scopus 로고
    • Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer
    • Daly, T.M., Ohlemiller, K.K., Roberts, M.S., Vogler, C.A. and Sands, M.S. (2001) Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther., 8, 1291-1298.
    • (2001) Gene Ther , vol.8 , pp. 1291-1298
    • Daly, T.M.1    Ohlemiller, K.K.2    Roberts, M.S.3    Vogler, C.A.4    Sands, M.S.5
  • 52
    • 3042857400 scopus 로고    scopus 로고
    • Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene
    • Hartung, S.D., Frandsen, J.L., Pan, D., Koniar, B.L., Graupman, P., Gunther, R., Low, W.C., Whitley, C.B. and McIvor, R.S. (2004) Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol. Ther., 9, 866-875.
    • (2004) Mol. Ther. , vol.9 , pp. 866-875
    • Hartung, S.D.1    Frandsen, J.L.2    Pan, D.3    Koniar, B.L.4    Graupman, P.5    Gunther, R.6    Low, W.C.7    Whitley, C.B.8    McIvor, R.S.9
  • 54
    • 4444229470 scopus 로고    scopus 로고
    • Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse
    • Sferra, T.J., Backstrom, K., Wang, C., Rennard, R., Miller, M. and Hu, Y. (2004) Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse. Mol. Ther., 10, 478-491.
    • (2004) Mol. Ther. , vol.10 , pp. 478-491
    • Sferra, T.J.1    Backstrom, K.2    Wang, C.3    Rennard, R.4    Miller, M.5    Hu, Y.6
  • 55
    • 17644374493 scopus 로고    scopus 로고
    • AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy
    • Rafi, M.A., Zhi Rao, H., Passini, M.A., Curtis, M., Vanier, M.T., Zaka, M., Luzi, P., Wolfe, J.H. and Wenger, D.A. (2005) AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Mol. Ther., 11, 734-744.
    • (2005) Mol. Ther. , vol.11 , pp. 734-744
    • Rafi, M.A.1    Zhi Rao, H.2    Passini, M.A.3    Curtis, M.4    Vanier, M.T.5    Zaka, M.6    Luzi, P.7    Wolfe, J.H.8    Wenger, D.A.9
  • 56
    • 33845983322 scopus 로고    scopus 로고
    • Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy
    • Lin, D., Donsante, A., Macauley, S., Levy, B., Vogler, C. and Sands, M.S. (2007) Central nervous system-directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy. Mol. Ther., 15, 44-52.
    • (2007) Mol. Ther. , vol.15 , pp. 44-52
    • Lin, D.1    Donsante, A.2    Macauley, S.3    Levy, B.4    Vogler, C.5    Sands, M.S.6
  • 57
    • 0032213413 scopus 로고    scopus 로고
    • Extensive beta-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain
    • Ghodsi, A., Stein, C., Derksen, T., Yang, G., Anderson, R.D. and Davidson, B.L. (1998) Extensive beta-glucuronidase activity in murine central nervous system after adenovirus-mediated gene transfer to brain. Hum. Gene Ther, 9, 2331-2340.
    • (1998) Hum. Gene Ther , vol.9 , pp. 2331-2340
    • Ghodsi, A.1    Stein, C.2    Derksen, T.3    Yang, G.4    Anderson, R.D.5    Davidson, B.L.6
  • 58
    • 2942588715 scopus 로고    scopus 로고
    • Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis
    • Griffey, M., Bible, E., Vogler, C., Levy, B., Gupta, P., Cooper, J. and Sands, M.S. (2004) Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile neuronal ceroid lipofuscinosis. Neurobiol. Dis., 16, 360-369.
    • (2004) Neurobiol. Dis. , vol.16 , pp. 360-369
    • Griffey, M.1    Bible, E.2    Vogler, C.3    Levy, B.4    Gupta, P.5    Cooper, J.6    Sands, M.S.7
  • 59
    • 23844451244 scopus 로고    scopus 로고
    • AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2
    • Lin, D., Fantz, C.R., Levy, B., Rafi, M.A., Vogler, C., Wenger, D.A. and Sands, M.S. (2005) AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. Mol. Ther., 12, 422-430.
    • (2005) Mol. Ther. , vol.12 , pp. 422-430
    • Lin, D.1    Fantz, C.R.2    Levy, B.3    Rafi, M.A.4    Vogler, C.5    Wenger, D.A.6    Sands, M.S.7
  • 61
    • 0034986419 scopus 로고    scopus 로고
    • Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII
    • Frisella, W.A., O'Connor, L.H., Vogler, C.A., Roberts, M., Walkley, S., Levy, B., Daly, T.M. and Sands, M.S. (2001) Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. Mol. Ther., 3, 351-358.
    • (2001) Mol. Ther. , vol.3 , pp. 351-358
    • Frisella, W.A.1    O'Connor, L.H.2    Vogler, C.A.3    Roberts, M.4    Walkley, S.5    Levy, B.6    Daly, T.M.7    Sands, M.S.8
  • 62
    • 0032758906 scopus 로고    scopus 로고
    • Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice
    • Skorupa, A.F., Fisher, K.J., Wilson, J.M., Parente, M.K. and Wolfe, J.H. (1999) Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice. Exp. Neurol., 160, 17-27.
    • (1999) Exp. Neurol. , vol.160 , pp. 17-27
    • Skorupa, A.F.1    Fisher, K.J.2    Wilson, J.M.3    Parente, M.K.4    Wolfe, J.H.5
  • 63
    • 70350502352 scopus 로고    scopus 로고
    • Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy
    • Chen, Y.H., Chang, M. and Davidson, B.L. (2009) Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy. Nat. Med., 15, 1215-1218.
    • (2009) Nat. Med. , vol.15 , pp. 1215-1218
    • Chen, Y.H.1    Chang, M.2    Davidson, B.L.3
  • 64
    • 33646808142 scopus 로고    scopus 로고
    • Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice
    • Watson, G., Bastacky, J., Belichenko, P., Buddhikot, M., Jungles, S., Vellard, M., Mobley, W.C. and Kakkis, E. (2006) Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice. Gene Ther., 13, 917-925.
    • (2006) Gene Ther , vol.13 , pp. 917-925
    • Watson, G.1    Bastacky, J.2    Belichenko, P.3    Buddhikot, M.4    Jungles, S.5    Vellard, M.6    Mobley, W.C.7    Kakkis, E.8
  • 65
    • 0032982480 scopus 로고    scopus 로고
    • Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector
    • Elliger, S.S., Elliger, C.A., Aguilar, C.P., Raju, N.R. and Watson, G.L. (1999) Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector. Gene Ther., 6, 1175-1178.
    • (1999) Gene Ther , vol.6 , pp. 1175-1178
    • Elliger, S.S.1    Elliger, C.A.2    Aguilar, C.P.3    Raju, N.R.4    Watson, G.L.5
  • 66
    • 23844491693 scopus 로고    scopus 로고
    • AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis
    • Griffey, M., Macauley, S.L., Ogilvie, J.M. and Sands, M.S. (2005) AAV2-mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis. Mol. Ther., 12, 413-421.
    • (2005) Mol. Ther. , vol.12 , pp. 413-421
    • Griffey, M.1    Macauley, S.L.2    Ogilvie, J.M.3    Sands, M.S.4
  • 67
    • 0037658991 scopus 로고    scopus 로고
    • Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice
    • Hennig, A.K., Levy, B., Ogilvie, J.M., Vogler, C.A., Galvin, N., Bassnett, S. and Sands, M.S. (2003) Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. J. Neurosci., 23, 3302-3307.
    • (2003) J. Neurosci. , vol.23 , pp. 3302-3307
    • Hennig, A.K.1    Levy, B.2    Ogilvie, J.M.3    Vogler, C.A.4    Galvin, N.5    Bassnett, S.6    Sands, M.S.7
  • 68
    • 0036703479 scopus 로고    scopus 로고
    • Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells of the rostral migratory stream
    • Passini, M.A., Lee, E.B., Heuer, G.G. and Wolfe, J.H. (2002) Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells of the rostral migratory stream. J. Neurosci., 22, 6437-6446.
    • (2002) J. Neurosci. , vol.22 , pp. 6437-6446
    • Passini, M.A.1    Lee, E.B.2    Heuer, G.G.3    Wolfe, J.H.4
  • 69
    • 34548610909 scopus 로고    scopus 로고
    • A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease
    • Cearley, C.N. and Wolfe, J.H. (2007) A single injection of an adeno-associated virus vector into nuclei with divergent connections results in widespread vector distribution in the brain and global correction of a neurogenetic disease. J. Neurosci., 27, 9928-9940.
    • (2007) J. Neurosci. , vol.27 , pp. 9928-9940
    • Cearley, C.N.1    Wolfe, J.H.2
  • 72
    • 77954225471 scopus 로고    scopus 로고
    • Common and uncommon pathogenic cascades in lysosomal storage diseases
    • Vitner, E.B., Platt, F.M. and Futerman, A.H. (2010) Common and uncommon pathogenic cascades in lysosomal storage diseases. J. Biol. Chem., 285, 20423-20427.
    • (2010) J. Biol. Chem. , vol.285 , pp. 20423-20427
    • Vitner, E.B.1    Platt, F.M.2    Futerman, A.H.3
  • 73
    • 0030898926 scopus 로고    scopus 로고
    • Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation
    • Sands, M.S., Vogler, C., Torrey, A., Levy, B., Gwynn, B., Grubb, J., Sly, W.S. and Birkenmeier, E.H. (1997) Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J. Clin. Invest., 99, 1596-1605.
    • (1997) J. Clin. Invest. , vol.99 , pp. 1596-1605
    • Sands, M.S.1    Vogler, C.2    Torrey, A.3    Levy, B.4    Gwynn, B.5    Grubb, J.6    Sly, W.S.7    Birkenmeier, E.H.8
  • 74
    • 40949120522 scopus 로고    scopus 로고
    • N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice
    • Baek, R.C., Kasperzyk, J.L., Platt, F.M. and Seyfried, T.N. (2008) N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. Neurochem. Int., 52, 1125-1133.
    • (2008) Neurochem. Int. , vol.52 , pp. 1125-1133
    • Baek, R.C.1    Kasperzyk, J.L.2    Platt, F.M.3    Seyfried, T.N.4
  • 75
    • 0043032816 scopus 로고    scopus 로고
    • Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin
    • Pelled, D., Lloyd-Evans, E., Riebeling, C., Jeyakumar, M., Platt, F.M. and Futerman, A.H. (2003) Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J. Biol. Chem., 278, 29496-29501.
    • (2003) J. Biol. Chem. , vol.278 , pp. 29496-29501
    • Pelled, D.1    Lloyd-Evans, E.2    Riebeling, C.3    Jeyakumar, M.4    Platt, F.M.5    Futerman, A.H.6
  • 76
    • 0035168688 scopus 로고    scopus 로고
    • Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
    • Jeyakumar, M., Norflus, F., Tifft, C.J., Cortina-Borja, M., Butters, T.D., Proia, R.L., Perry, V.H., Dwek, R.A. and Platt, F.M. (2001) Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood, 97, 327-329.
    • (2001) Blood , vol.97 , pp. 327-329
    • Jeyakumar, M.1    Norflus, F.2    Tifft, C.J.3    Cortina-Borja, M.4    Butters, T.D.5    Proia, R.L.6    Perry, V.H.7    Dwek, R.A.8    Platt, F.M.9
  • 80
    • 27744533046 scopus 로고    scopus 로고
    • Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II
    • Franco, L.M., Sun, B., Yang, X., Bird, A., Zhang, H., Schneider, A., Brown, T., Young, S.P., Clay, T.M., Amalfitano, A. et al. (2005) Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol. Ther., 12, 876-884.
    • (2005) Mol. Ther. , vol.12 , pp. 876-884
    • Franco, L.M.1    Sun, B.2    Yang, X.3    Bird, A.4    Zhang, H.5    Schneider, A.6    Brown, T.7    Young, S.P.8    Clay, T.M.9    Amalfitano, A.10
  • 81
    • 0036134280 scopus 로고    scopus 로고
    • Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy
    • Biswas, S. and LeVine, S.M. (2002) Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. Pediatr. Res., 51, 40-47.
    • (2002) Pediatr. Res. , vol.51 , pp. 40-47
    • Biswas, S.1    LeVine, S.M.2
  • 82
    • 77952010195 scopus 로고    scopus 로고
    • Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB
    • Heldermon, C.D., Ohlemiller, K.K., Herzog, E.D., Vogler, C., Qin, E., Wozniak, D.F., Tan, Y., Orrock, J.L. and Sands, M.S. (2010) Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB. Mol. Ther., 18, 873-880.
    • (2010) Mol. Ther. , vol.18 , pp. 873-880
    • Heldermon, C.D.1    Ohlemiller, K.K.2    Herzog, E.D.3    Vogler, C.4    Qin, E.5    Wozniak, D.F.6    Tan, Y.7    Orrock, J.L.8    Sands, M.S.9
  • 83
    • 21844461354 scopus 로고    scopus 로고
    • Peroxisomal participation in psychosine-mediated toxicity: implications for Krabbe's disease
    • Khan, M., Haq, E., Giri, S., Singh, I. and Singh, A.K. (2005) Peroxisomal participation in psychosine-mediated toxicity: implications for Krabbe's disease. J. Neurosci. Res., 80, 845-854.
    • (2005) J. Neurosci. Res. , vol.80 , pp. 845-854
    • Khan, M.1    Haq, E.2    Giri, S.3    Singh, I.4    Singh, A.K.5
  • 84
    • 0141767087 scopus 로고    scopus 로고
    • Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line
    • Haq, E., Giri, S., Singh, I. and Singh, A.K. (2003) Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line. J. Neurochem., 86, 1428-1440.
    • (2003) J. Neurochem. , vol.86 , pp. 1428-1440
    • Haq, E.1    Giri, S.2    Singh, I.3    Singh, A.K.4
  • 85
    • 43549092043 scopus 로고    scopus 로고
    • The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease
    • Giri, S., Khan, M., Nath, N., Singh, I. and Singh, A.K. (2008) The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. J. Neurochem., 105, 1820-1833.
    • (2008) J. Neurochem. , vol.105 , pp. 1820-1833
    • Giri, S.1    Khan, M.2    Nath, N.3    Singh, I.4    Singh, A.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.