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Volumn 5, Issue 1, 2005, Pages 55-65

Gene therapy of metachromatic leukodystrophy

Author keywords

Arylsulfatase A; Gene therapy; Lysosomal storage disease; Mannose 6 phosphate; Metachromatic leukodystrophy

Indexed keywords

ARYLSULFATASE; COMPLEMENTARY DNA; LENTIVIRUS VECTOR; MANNOSE 6 PHOSPHATE; RETROVIRUS VECTOR; SPHINGOLIPID; SULFATIDE;

EID: 12244301598     PISSN: 14712598     EISSN: None     Source Type: Journal    
DOI: 10.1517/14712598.5.1.55     Document Type: Review
Times cited : (29)

References (59)
  • 1
    • 0015128027 scopus 로고
    • The incidence and genetics of metachromatic leucodystrophy in northern Sweden
    • GUSTAVSON KH, HAGBERG B: The incidence and genetics of metachromatic leucodystrophy in northern Sweden. Acta Paediatr. Scand. (1971) 60(5):585-590.
    • (1971) Acta Paediatr. Scand. , vol.60 , Issue.5 , pp. 585-590
    • Gustavson, K.H.1    Hagberg, B.2
  • 2
    • 0030865925 scopus 로고    scopus 로고
    • Leukodystrophy incidence in Germany
    • HEIM P, CLAUSSEN M, HOFFMANN B et al.: Leukodystrophy incidence in Germany. Am. J. Med. Genet. (1997) 71(4):475-478.
    • (1997) Am. J. Med. Genet. , vol.71 , Issue.4 , pp. 475-478
    • Heim, P.1    Claussen, M.2    Hoffmann, B.3
  • 3
    • 0000497407 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (Eds), McGraw-Hill, New York, USA
    • VON FIGURA K, GIESELMANN V, JAEKEN J: Metachromatic leukodystrophy. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (Eds), McGraw-Hill, New York, USA (2001):3695-3724. A comprehensive review summarising the genetics and pathology of MLD, the biochemistry of ASA, and therapy approaches in ASA knockout mice.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3695-3724
    • Von Figura, K.1    Gieselmann, V.2    Jaeken, J.3
  • 4
    • 0000857916 scopus 로고    scopus 로고
    • Sphingolipid activator proteins
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (Eds), McGraw-Hill, New York, USA
    • SANDHOFF K, KOLTER T, HARZER K: Sphingolipid activator proteins. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (Eds), McGraw-Hill, New York, USA (2001):3371-3388.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3371-3388
    • Sandhoff, K.1    Kolter, T.2    Harzer, K.3
  • 5
    • 0036703477 scopus 로고    scopus 로고
    • A myelin galactolipid, sulfatide, is essential for maintenance of ion channels on myelinated axon but not essential for initial cluster formation
    • ISHIBASHI T, DUPREE JL, IKENAKA K et al.: A myelin galactolipid, sulfatide, is essential for maintenance of ion channels on myelinated axon but not essential for initial cluster formation. J. Neurosci. (2002) 22(15):6507-6514.
    • (2002) J. Neurosci. , vol.22 , Issue.15 , pp. 6507-6514
    • Ishibashi, T.1    Dupree, J.L.2    Ikenaka, K.3
  • 6
    • 1242314377 scopus 로고    scopus 로고
    • Sulfatide is a negative regulator of oligodendrocyte differentiation: Development in sulfatide-null mice
    • HIRAHARA Y, BANSAL R, HONKE K et al.: Sulfatide is a negative regulator of oligodendrocyte differentiation: development in sulfatide-null mice. Glia (2004) 45(3):269-277.
    • (2004) Glia , vol.45 , Issue.3 , pp. 269-277
    • Hirahara, Y.1    Bansal, R.2    Honke, K.3
  • 7
    • 10544235699 scopus 로고    scopus 로고
    • Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy
    • HESS B, SAFTIG P, HARTMANN D et al.: Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc. Natl. Acad. Sci. USA (1996) 93(25):14821-14826. Describes the construction of the ASA knockout mouse model for MLD.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , Issue.25 , pp. 14821-14826
    • Hess, B.1    Saftig, P.2    Hartmann, D.3
  • 8
    • 9144238661 scopus 로고    scopus 로고
    • Metachromatic leukodystrophy: Consequences of sulphatide accumulation
    • GIESELMANN V, FRANKEN S, KLEIN D et al.: Metachromatic leukodystrophy: consequences of sulphatide accumulation. Acta Paediatr. Suppl. (2003) 92(443):74-79. A recent review on the phenotype and molecular pathology of ASA knockout mice.
    • (2003) Acta Paediatr. Suppl. , vol.92 , Issue.443 , pp. 74-79
    • Gieselmann, V.1    Franken, S.2    Klein, D.3
  • 9
    • 0034920368 scopus 로고    scopus 로고
    • Sulfatide storage in visceral organs of arylsulfatase A-deficient mice
    • SCHOTT I, HARTMANN D, GIESELMANN V, LULLMANN-RAUCH R: Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. Virchows Arch. (2001) 439(1):90-96.
    • (2001) Virchows Arch. , vol.439 , Issue.1 , pp. 90-96
    • Schott, I.1    Hartmann, D.2    Gieselmann, V.3    Lullmann-Rauch, R.4
  • 10
    • 4844221895 scopus 로고    scopus 로고
    • Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: Cellular alterations and topographic distribution
    • WITTKE D, HARTMANN D, GIESELMANN V, LULLMANN-RAUCH R: Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. Acta Neuropathol. (Berl.) (2004) 108(4):261-271.
    • (2004) Acta Neuropathol. (Berl.) , vol.108 , Issue.4 , pp. 261-271
    • Wittke, D.1    Hartmann, D.2    Gieselmann, V.3    Lullmann-Rauch, R.4
  • 11
    • 0032729255 scopus 로고    scopus 로고
    • Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice
    • D'HOOGE R, COENEN R, GIESELMANN V, LULLMANN-RAUCH R, DE DEYN PP: Decline in brainstem auditory-evoked potentials coincides with loss of spiral ganglion cells in arylsulfatase A-deficient mice. Brain Res. (1999) 847(2):352-356.
    • (1999) Brain Res. , vol.847 , Issue.2 , pp. 352-356
    • D'Hooge, R.1    Coenen, R.2    Gieselmann, V.3    Lullmann-Rauch, R.4    De Deyn, P.P.5
  • 12
    • 0035099437 scopus 로고    scopus 로고
    • In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice
    • CONSIGLIO A, QUATTRINI A, MARTINO S et al.: In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Nat. Med. (2001) 7(3):310-316. Describes the high therapeutic potential of lentivirally mediated in vivo gene therapy.
    • (2001) Nat. Med. , vol.7 , Issue.3 , pp. 310-316
    • Consiglio, A.1    Quattrini, A.2    Martino, S.3
  • 13
    • 0032840656 scopus 로고    scopus 로고
    • Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice
    • D'HOOGE R, HARTMANN D, MANIL J, COLIN F, GIESELMANN V, DE DEYN PP: Neuromotor alterations and cerebellar deficits in aged arylsulfatase A-deficient transgenic mice. Neurosci. Lett. (1999) 273(2):93-96.
    • (1999) Neurosci. Lett. , vol.273 , Issue.2 , pp. 93-96
    • D'Hooge, R.1    Hartmann, D.2    Manil, J.3    Colin, F.4    Gieselmann, V.5    De Deyn, P.P.6
  • 14
    • 0035854585 scopus 로고    scopus 로고
    • Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy
    • D'HOOGE R, VAN DAM D, FRANCK F, GIESELMANN V, DE DEYN PP: Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. Brain Res. (2001) 907(1-2):35-43.
    • (2001) Brain Res. , vol.907 , Issue.1-2 , pp. 35-43
    • D'Hooge, R.1    Van Dam, D.2    Franck, F.3    Gieselmann, V.4    De Deyn, P.P.5
  • 15
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), Mc Graw-Hill, New York, USA
    • NEUFELD EF, MUENZER J: The mucopolysaccharidoses. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), Mc Graw-Hill, New York, USA (1989):1565-1587.
    • (1989) The Metabolic and Molecular Bases of Inherited Disease , pp. 1565-1587
    • Neufeld, E.F.1    Muenzer, J.2
  • 16
    • 24344441296 scopus 로고    scopus 로고
    • Transport of lysosomal enzymes
    • Saftig P (Ed.), Landes Bioscience, Georgetown, TX, USA. (In Press)
    • STORCH S, BRAULKE T: Transport of lysosomal enzymes. In: Lysosomes. Saftig P (Ed.), Landes Bioscience, Georgetown, TX, USA. (In Press). A review describing the M6P-dependent targeting of lysosomal enzymes.
    • Lysosomes
    • Storch, S.1    Braulke, T.2
  • 17
    • 0025084076 scopus 로고
    • Mannose 6-phosphate receptor dependent secretion of lysosomal enzymes
    • CHAO HH, WAHEED A, POHLMANN R, HILLE A, VON FIGURA K: Mannose 6-phosphate receptor dependent secretion of lysosomal enzymes. EMBO J. (1990) 9(11):3507-3513. Demonstrates that a substantial faction of ASA is delivered from cells.
    • (1990) EMBO J. , vol.9 , Issue.11 , pp. 3507-3513
    • Chao, H.H.1    Waheed, A.2    Pohlmann, R.3    Hille, A.4    Von Figura, K.5
  • 18
    • 0014939802 scopus 로고
    • Inborn errors of mucopolysaccharide metabolism
    • NEUFELD EF, FRATANTONI JC: Inborn errors of mucopolysaccharide metabolism. Science (1970) 169(941):141-146. Pioneering work that defines cross-correction as the mutual exchange of corrective factors secreted from two different LSD cell types.
    • (1970) Science , vol.169 , Issue.941 , pp. 141-146
    • Neufeld, E.F.1    Fratantoni, J.C.2
  • 19
    • 0001261457 scopus 로고    scopus 로고
    • I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
    • Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinder KW, Vogelstein B (Eds), McGraw-Hill, New York, USA
    • KORNFELD S, SLY WS: I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinder KW, Vogelstein B (Eds), McGraw-Hill, New York, USA (2001):3469-3482.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3469-3482
    • Kornfeld, S.1    Sly, W.S.2
  • 20
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • BARTON NW, FURBISH FS, MURRAY GJ, GARFIELD M, BRADY RO: Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Natl. Acad. Sci. USA (1990) 87(5):1913-1916. The first proof-of-principle for the efficacy of enzyme replacement therapy in a LSD.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.87 , Issue.5 , pp. 1913-1916
    • Barton, N.W.1    Furbish, F.S.2    Murray, G.J.3    Garfield, M.4    Brady, R.O.5
  • 21
    • 0036910177 scopus 로고    scopus 로고
    • Alpha-L-iduronidase and enzyme replacement therapy for mucoporysaccharidosis I
    • BROOKS DA: Alpha-L-iduronidase and enzyme replacement therapy for mucoporysaccharidosis I. Expert Opin. Biol. Ther. (2002) 2(8):967-976.
    • (2002) Expert Opin. Biol. Ther. , vol.2 , Issue.8 , pp. 967-976
    • Brooks, D.A.1
  • 23
    • 0035746540 scopus 로고    scopus 로고
    • Recombinant human acid-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a Phase I/II clinical trial
    • AMALFITANO A, BENGUR AR, MORSE RP et al.: Recombinant human acid-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a Phase I/II clinical trial. Genet. Med. (2001) 3:132-138.
    • (2001) Genet. Med. , vol.3 , pp. 132-138
    • Amalfitano, A.1    Bengur, A.R.2    Morse, R.P.3
  • 24
    • 2942570942 scopus 로고    scopus 로고
    • Long-term intravenous treatment of Pompe disease with recombinant human-glucosidase from milk
    • VAN DEN HOUT JM, KAMPHOVEN JH, WINKEL LP et al.: Long-term intravenous treatment of Pompe disease with recombinant human-glucosidase from milk. Pediatrics (2004) 113:e448-e457.
    • (2004) Pediatrics , vol.113
    • Van Den Hout, J.M.1    Kamphoven, J.H.2    Winkel, L.P.3
  • 25
    • 0026572112 scopus 로고
    • Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
    • LEINEKUGEL P, MICHEL S, CONZELMANN E, SANDHOFF K: Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum. Genet. (1992) 88(5):513-523. Demonstrates that low residual ASA activities are sufficient to prevent MLD.
    • (1992) Hum. Genet. , vol.88 , Issue.5 , pp. 513-523
    • Leinekugel, P.1    Michel, S.2    Conzelmann, E.3    Sandhoff, K.4
  • 26
    • 0027375298 scopus 로고
    • Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease
    • PENZIEN JM, KAPPLER J, HERSCHKOWITZ N et al.: Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. Am. J. Hum. Genet. (1993) 52(3):557-564. Confirms the data of the previous study.
    • (1993) Am. J. Hum. Genet. , vol.52 , Issue.3 , pp. 557-564
    • Penzien, J.M.1    Kappler, J.2    Herschkowitz, N.3
  • 27
    • 0028324026 scopus 로고
    • Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease
    • WALKLEY SU, THRALL MA, DOBRENIS K et al.: Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc. Natl. Acad. Sci. USA (1994) 91(8):2970-2974. The most successful BMT therapy is an animal model for a LSD so far.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , Issue.8 , pp. 2970-2974
    • Walkley, S.U.1    Thrall, M.A.2    Dobrenis, K.3
  • 28
    • 0026552605 scopus 로고
    • Turnover of resident microglia in the normal adult mouse brain
    • LAWSON LJ, PERRY VH, GORDON S: Turnover of resident microglia in the normal adult mouse brain. Neuroscience (1992) 48(2):405-415.
    • (1992) Neuroscience , vol.48 , Issue.2 , pp. 405-415
    • Lawson, L.J.1    Perry, V.H.2    Gordon, S.3
  • 29
    • 0028329894 scopus 로고
    • Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation
    • KRALL WJ, CHALLITA PM, PERLMUTTER LS, SKELTON DC, KOHN DB: Cells expressing human glucocerebrosidase from a retroviral vector repopulate macrophages and central nervous system microglia after murine bone marrow transplantation. Blood (1994) 83(9):2737-2748.
    • (1994) Blood , vol.83 , Issue.9 , pp. 2737-2748
    • Krall, W.J.1    Challita, P.M.2    Perlmutter, L.S.3    Skelton, D.C.4    Kohn, D.B.5
  • 30
    • 0030787644 scopus 로고    scopus 로고
    • Kinetics of central nervous system microglial and macrophage engraftment: Analysis using a transgenic bone marrow transplantation model
    • KENNEDY DW, ABKOWITZ JL: Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood (1997) 90(3):986-993.
    • (1997) Blood , vol.90 , Issue.3 , pp. 986-993
    • Kennedy, D.W.1    Abkowitz, J.L.2
  • 31
    • 0029634358 scopus 로고
    • Bone marrow transplantation for lysosomal diseases
    • WALKLEY SU, DOBRENIS K: Bone marrow transplantation for lysosomal diseases. Lancet (1995) 345:1382-1383.
    • (1995) Lancet , vol.345 , pp. 1382-1383
    • Walkley, S.U.1    Dobrenis, K.2
  • 32
    • 0004481552 scopus 로고
    • Extracellular release of lysosomal glycosidases in cultures of cat microglia
    • DOBRENIS K, WENGER DA, WALKLEY SU: Extracellular release of lysosomal glycosidases in cultures of cat microglia. Mol. Biol. Cell (1994) 5:113a.
    • (1994) Mol. Biol. Cell , vol.5
    • Dobrenis, K.1    Wenger, D.A.2    Walkley, S.U.3
  • 33
    • 11144354757 scopus 로고    scopus 로고
    • Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified haematopoietic stem cells
    • BIFFI A, DE PALMA M, QUATTRINI A et al.: Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified haematopoietic stem cells. J. Clin. Invest. (2004) 113(8):1118-1129. Describes the therapeutic potential of lentivirally mediated BMSC-GT is a mouse model for MLD.
    • (2004) J. Clin. Invest. , vol.113 , Issue.8 , pp. 1118-1129
    • Biffi, A.1    De Palma, M.2    Quattrini, A.3
  • 34
    • 0029131771 scopus 로고
    • Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector
    • OHASHI T, WATABE K, SATO Y, SAITO I, BARRANGER JA, ETO Y: Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. Gene Ther. (1995) 2(7):443-449.
    • (1995) Gene Ther. , vol.2 , Issue.7 , pp. 443-449
    • Ohashi, T.1    Watabe, K.2    Sato, Y.3    Saito, I.4    Barranger, J.A.5    Eto, Y.6
  • 35
    • 0029919605 scopus 로고    scopus 로고
    • Gene therapy for metachromatic leukodystrophy
    • OHASHI T, WATABE K, SATO Y et al.: Gene therapy for metachromatic leukodystrophy. Acta Paediatr. Jpn. (1996) 38(2):193-201.
    • (1996) Acta Paediatr. Jpn. , vol.38 , Issue.2 , pp. 193-201
    • Ohashi, T.1    Watabe, K.2    Sato, Y.3
  • 36
    • 0028466388 scopus 로고
    • Expression of the human glucocerebrosidase and arylsulfatase A genes in murine and patient primary fibroblasts transduced by an adeno-associated virus vector
    • WEI JF, WEI FS, SAMULSKI RJ, BARRANGER JA: Expression of the human glucocerebrosidase and arylsulfatase A genes in murine and patient primary fibroblasts transduced by an adeno-associated virus vector. Gene Ther. (1994) 1(4):261-268.
    • (1994) Gene Ther. , vol.1 , Issue.4 , pp. 261-268
    • Wei, J.F.1    Wei, F.S.2    Samulski, R.J.3    Barranger, J.A.4
  • 37
    • 0025993045 scopus 로고
    • Restoration of arylsulphatase A activity in human-metachromatic- leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer
    • ROMMERSKIRCH W, FLUHARTY AL, PETERS C, VON FIGURA K, GIESELMANN V: Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer. Biochem. J. (1991) 280(Pt 2):459-461.
    • (1991) Biochem. J. , vol.280 , Issue.PART 2 , pp. 459-461
    • Rommerskirch, W.1    Fluharty, A.L.2    Peters, C.3    Von Figura, K.4    Gieselmann, V.5
  • 38
    • 0027329950 scopus 로고
    • Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene
    • OHASHI T, ETO Y, LEARISH R, BARRANGER JA: Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene. J. Inherit. Metab. Dis. (1993) 16(5):881-885.
    • (1993) J. Inherit. Metab. Dis. , vol.16 , Issue.5 , pp. 881-885
    • Ohashi, T.1    Eto, Y.2    Learish, R.3    Barranger, J.A.4
  • 39
    • 0029915579 scopus 로고    scopus 로고
    • Retroviral gene transfer and sustained expression of human arylsulfatase A
    • LEARISH R, OHASHI T, ROBBINS PA et al.: Retroviral gene transfer and sustained expression of human arylsulfatase A. Gene Ther. (1996) 3(4):343-349.
    • (1996) Gene Ther. , vol.3 , Issue.4 , pp. 343-349
    • Learish, R.1    Ohashi, T.2    Robbins, P.A.3
  • 40
    • 0032552430 scopus 로고    scopus 로고
    • Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro
    • SANGALLI A, TAVEGGIA C, SALVIATI A, WRABETZ L, BORDIGNON C, SEVERINI GM: Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro. Hum. Gene Ther. (1998) 9(14):2111-2119.
    • (1998) Hum. Gene Ther. , vol.9 , Issue.14 , pp. 2111-2119
    • Sangalli, A.1    Taveggia, C.2    Salviati, A.3    Wrabetz, L.4    Bordignon, C.5    Severini, G.M.6
  • 41
    • 0033960144 scopus 로고    scopus 로고
    • Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24
    • TSUTSUDAASANO A, MIGITA M, TAKAHASHI K, SHIMADA T: Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24. J. Hum. Genet. (2000) 45(1):18-23.
    • (2000) J. Hum. Genet. , vol.45 , Issue.1 , pp. 18-23
    • Tsutsudaasano, A.1    Migita, M.2    Takahashi, K.3    Shimada, T.4
  • 42
    • 85047696614 scopus 로고    scopus 로고
    • Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells
    • MATZNER U, HABETHA M, GIESELMANN V: Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. Gene Ther. (2000) 7:805-812. Proof that the human ASA can substitute for the murine enzyme and compensate the catabolic defect of ASA-deficient mouse cells.
    • (2000) Gene Ther. , vol.7 , pp. 805-812
    • Matzner, U.1    Habetha, M.2    Gieselmann, V.3
  • 43
    • 0033943326 scopus 로고    scopus 로고
    • Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector
    • MATZNER U, HARZER K, LEARISH RD, BARRANGER JA, GIESELMANN V: Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. Gene Ther. (2000) 7(14):1250-1257. Demonstrates the transfer of extraordinary high levels of ASA into the CNS by BMSC-GT.
    • (2000) Gene Ther. , vol.7 , Issue.14 , pp. 1250-1257
    • Matzner, U.1    Harzer, K.2    Learish, R.D.3    Barranger, J.A.4    Gieselmann, V.5
  • 44
    • 85047699059 scopus 로고    scopus 로고
    • Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: Effects on visceral and nervous system disease manifestations
    • MATZNER U, HARTMANN D, LULLMANN-RAUCH R et al.: Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. Gene Ther. (2002) 9(1):53-63. Describes the therapeutic potency of retrovirally mediated BMSC-GT in a mouse model for MLD.
    • (2002) Gene Ther. , vol.9 , Issue.1 , pp. 53-63
    • Matzner, U.1    Hartmann, D.2    Lullmann-Rauch, R.3
  • 45
    • 0021726790 scopus 로고
    • Genes with promoters in retrovirus vectors can be independently suppressed by an epigeneric mechanism
    • EMERMAN M, TEMIN HM: Genes with promoters in retrovirus vectors can be independently suppressed by an epigeneric mechanism. Cell (1984) 39(3 Pt 2):449-467.
    • (1984) Cell , vol.39 , Issue.3 PART 2 , pp. 449-467
    • Emerman, M.1    Temin, H.M.2
  • 46
    • 0035912725 scopus 로고    scopus 로고
    • Molecular mechanisms of translation initiation in eukaryotes
    • PESTOVA TV, KOLUPAEVA VG, LOMAKIN IB et al.: Molecular mechanisms of translation initiation in eukaryotes. Proc. Natl. Acad. Sci. USA (2001) 98(13):7029-7036.
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , Issue.13 , pp. 7029-7036
    • Pestova, T.V.1    Kolupaeva, V.G.2    Lomakin, I.B.3
  • 47
    • 0346036159 scopus 로고    scopus 로고
    • Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages
    • MUSCHOL N, MATZNER U, TIEDE S, GIESELMANN V, ULLRICH K, BRAULKE T: Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages. Biochem. J. (2002) 368(Pt 3):845-853. Demonstrates the expression of uptake-incompetent ASA by cultured cells of the monocyte-phagocyte system.
    • (2002) Biochem. J. , vol.368 , Issue.PART 3 , pp. 845-853
    • Muschol, N.1    Matzner, U.2    Tiede, S.3    Gieselmann, V.4    Ullrich, K.5    Braulke, T.6
  • 48
    • 0242270777 scopus 로고    scopus 로고
    • Gene transfer strategies for correction of lysosomal storage disorders
    • D'AZZO A: Gene transfer strategies for correction of lysosomal storage disorders. Acta Haematol. (2003) 110(2-3):71-85. An excellent review summarising important aspects of gene therapy for LSDs.
    • (2003) Acta Haematol. , vol.110 , Issue.2-3 , pp. 71-85
    • D'Azzo, A.1
  • 49
    • 18144390040 scopus 로고    scopus 로고
    • Therapy of lysosomal storage diseases
    • Saftig P (Ed.), Landes Bioscience, Georgetown, TX, USA. (In Press)
    • MATZNER U: Therapy of lysosomal storage diseases. In: Lysosomes. Saftig P (Ed.), Landes Bioscience, Georgetown, TX, USA. (In Press). A review also dealing with possible alternatives to gene therapy.
    • Lysosomes
    • Matzner, U.1
  • 50
    • 0347093304 scopus 로고    scopus 로고
    • Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: Implications for Niemann-Pick disease enzyme replacement therapy
    • DHAMI R, SCHUCHMAN EH: Mannose 6-phosphate receptor-mediated uptake is defective in acid sphingomyelinase-deficient macrophages: implications for Niemann-Pick disease enzyme replacement therapy. J. Biol. Chem. (2004) 279(2):1526-1532. This report demonstrates impaired endocytosis in certain sphingolipidosis cells.
    • (2004) J. Biol. Chem. , vol.279 , Issue.2 , pp. 1526-1532
    • Dhami, R.1    Schuchman, E.H.2
  • 51
    • 0033810516 scopus 로고    scopus 로고
    • Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
    • MIRANDA SR, HE X, SIMONARO CM et al.: Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. (2000) 14:1988-1995.
    • (2000) FASEB J. , vol.14 , pp. 1988-1995
    • Miranda, S.R.1    He, X.2    Simonaro, C.M.3
  • 52
    • 0037036461 scopus 로고    scopus 로고
    • Absence of metabolic cross-correction in Tay-Sachs cells: Implications for gene therapy
    • MARTINO S, EMILIANI C, TANCINI B et al.: Absence of metabolic cross-correction in Tay-Sachs cells: implications for gene therapy. J. Biol. Chem. (2002) 277(23):20177-20184. Demonstrates defective lysosomal targeting in certain sphingolipidosis cells.
    • (2002) J. Biol. Chem. , vol.277 , Issue.23 , pp. 20177-20184
    • Martino, S.1    Emiliani, C.2    Tancini, B.3
  • 54
    • 0034928447 scopus 로고    scopus 로고
    • Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells
    • MATZNER U, SCHESTAG F, HARTMANN D et al.: Bone marrow stem cell gene therapy of arylsulfatase A-deficient mice, using an arylsulfatase A mutant that is hypersecreted from retrovirally transduced donor-type cells. Hum. Gene Ther. (2001) 12(9):1021-1033. Indicates that efficient treatment of MLD by gene therapy requires phospholylated ASA.
    • (2001) Hum. Gene Ther. , vol.12 , Issue.9 , pp. 1021-1033
    • Matzner, U.1    Schestag, F.2    Hartmann, D.3
  • 55
    • 0037418258 scopus 로고    scopus 로고
    • Transgene produces massive overexpression of human beta-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors
    • VOGLER C, GALVIN N, LEVY B et al.: Transgene produces massive overexpression of human beta-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors. Proc. Natl. Acad. Sci. USA (2003) 100(5):2669-2673.
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , Issue.5 , pp. 2669-2673
    • Vogler, C.1    Galvin, N.2    Levy, B.3
  • 56
    • 0026497446 scopus 로고
    • Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion
    • IOANNOU YA, BISHOP DF, DESNICK RJ: Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J. Cell Biol. (1992) 119(5):1137-1350.
    • (1992) J. Cell Biol. , vol.119 , Issue.5 , pp. 1137-1350
    • Ioannou, Y.A.1    Bishop, D.F.2    Desnick, R.J.3
  • 57
    • 0037847425 scopus 로고    scopus 로고
    • Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme
    • DIERKS T, SCHMIDT B, BORISSENKO LV et al.: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell (2003) 113(4):435-444.
    • (2003) Cell , vol.113 , Issue.4 , pp. 435-444
    • Dierks, T.1    Schmidt, B.2    Borissenko, L.V.3
  • 58
    • 0027368464 scopus 로고
    • Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucoporysaccharidosis-type-VI fibroblasts
    • ANSON DS, MULLER V, BIELICKI J, HARPER GS, HOPWOOD JJ: Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucoporysaccharidosis-type-VI fibroblasts. Biochem. J. (1993) 294(Pt 3):657-662.
    • (1993) Biochem. J. , vol.294 , Issue.PART 3 , pp. 657-662
    • Anson, D.S.1    Muller, V.2    Bielicki, J.3    Harper, G.S.4    Hopwood, J.J.5
  • 59
    • 0029162832 scopus 로고
    • Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype
    • OHASHI T, MATALON R, BARRANGER JA, ETO Y: Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype. Gene Ther. (1995) 2(6):363-368.
    • (1995) Gene Ther. , vol.2 , Issue.6 , pp. 363-368
    • Ohashi, T.1    Matalon, R.2    Barranger, J.A.3    Eto, Y.4


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