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Review

Gene therapy for lysosomal storage diseases

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Pages 1673-1682 | Published online: 23 Feb 2005

Bibliography

  • The Metabolic and Molecular Bases of Inherited Disease.Scrivner CR, Beaudet AL, Sly WS, Valle D (Eds.), McGraw Hill, New York (1995):2427–2883.
  • NEUFELD EF: Lysosomal storage diseases. Ann. Rev. Bio-chem. (1991) 60:257–280.
  • SANDS MS, WOLFE JH, BIRKENMEIER EH etal.: Gene ther- apy for murine mucopolysaccharidosis Type VII. Neu-romusc. Dis. (1997) 7:352–360.
  • NEUFELD EF, FRATANTONI JC: Inborn errors of muco-polysaccharide metabolism. Science (1970) 169:141–146.
  • KORNFELD S: Structure and function of the mannose-6-phosphate/insulin like growth factor II receptors. Ann. Rev. Biochem. (1992) 61:307–20.
  • VOGLER C, SANDS M, HIGGINS A et al.: Enzyme replace-ment with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis Type VII mouse. Pe-diatr. Res. (1993) 34:837–840.
  • SANDS MS, VOGLER C, KYLE JAN et al. : Enzyme replace-ment therapy for murine mucopolysaccharidosis Type VII. J. Clin. Invest. (1994) 93:2324–2331.
  • SANDS MS, VOGLER C, TORREY A et al.: Murine muco-polysaccharidosis Type VII: long term therapeutic ef-fects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J. Clin. In-vest. (1997) 99:1596–1605.
  • BEUTLER E, KAY A, SAVEN A et al.: Enzyme replacementtherapy for Gaucher's disease. Blood (1991) 78:1183–1189.
  • BARTON NW, BRADY RO, DAMBROSIA S et al.: Replace-ment therapy for inherited enzyme deficiency - mac r op hage -t argette d glucocerebrosidase for Gaucher's disease. New Engl. J. Med. (1991) 324:1464–1470.
  • VOGLER C, SANDS MS, LEVY B et al.: Enzyme replace-ment with recombinant 13-glucuronidase in murine mucopolysaccharidosis Type VII - impact of therapy during the first six weeks of life on subsequent lysoso-mal storage, growth, and survival. Pediatr. Res. (1996) 39:1050–1054.
  • KRIVIT W, LOCKMAN LA, WATKINS PA, HIRSCH J, SHAPIRO EG: The future of bone marrow transplanta-tion as a treatment for adrenoleukodystrophy, meta-chromatic leukodystrophy, globoid cell leukodystrophy, and Hurler syndrome. J. Inherit. Me-tab. Dis. (1995) 18:398–412.
  • RAPPEPORT JM, BARRANGER JA, GINNS El: Bone mar-row transplantation in Gaucher disease. In: Birth De-fects: Original Article Series. March of Dimes Birth Defects Foundation. Krivit W, Paul NW (Eds.), Alan R Liss, New York (1986).
  • RINGDEN O, GROTH C, ERIKSON A et al.: Long-termfollow-up of the first successful bone marrow trans-plantation in Gaucher's disease. Transplantation (1988) 46:66–74.
  • WHITLEY CB, BELANI KG, CHANG PN et al.: Long-term outcome of Hurler syndrome following bone marrow transplantation. Am. J. Med. Gen. (1993) 46:209–218.
  • KRIVIT W, SHAPIRO EG, PETERS C et al.: Hematopoietic stem-cell transplantation in globoid-cell leukodystro-phy. New Engl. J. Med. (1998) 338:1119–1126.
  • SUZUKI K, PROIA RL, SUZUKI K: Mouse models of hu-man lysosomal disease. Brain Pathol (1998) 8:195–215.
  • WOLFE JH, KYLE JW, SANDS MS et al: High level expres-sion and export of beta-glucuronidase from murine mucopolysaccharidosis Type VII cells corrected by a double copy retroviral vector. Gene Ther. (1995) 2:70–78.
  • MOULLIER P, BOHL D, HEARD JM, DANOS O: Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fi-broblasts. Nature Gen. (1993) 4:154–159.
  • NAFFAKH N, PINSET C, MONTARRAS D et al.: Long-term secretion of therapeutic proteins from genetically modified skeletal muscles. Human Gene Ther. (1996) 7:11–21.
  • TAYLOR RM, WOLFE JH: Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secret-ing high levels of beta-glucuronidase. Nature Med. (1997)
  • SCHUENING F, LONGO WL, ATKINSON ME et al.: Retrovirus-mediated transfer of the cDNA for human glucocerebrosidase into peripheral blood repopulat-ing cells of patients with Gaucher's disease. Human Gene Ther. (1997) 8(17):2143–2160.
  • CORRELL PH, COLILLA S, DAVE HPG, KARLSSON S: Pro-duction of human glucocerebrosidase in mice after retroviral gene transfer into multipotential hemato-poietic progenitor cells. Blood (1992) 80:331–336.
  • OHASHI T, BOGGS S, ROBBINS P et al: Efficient transfer and sustained high expression of the human gluco-cerebrosidase gene in mice and their functional macrophages following transplantation of bone mar-row transduced by a retroviral vector. Proc. Natl. Acad. Sci. USA (1992) 89:11332–11336.
  • SCHIFFMANN R, MEDIN JA, WARD JM et al.: Transfer of the human glucocerebrosidase gene into hematopoie-tic stem cells of nonablated recipients: successful en-graftment and long-term expression of the transgene. Blood (1995) 86:1218–1227.
  • FINK JK, CORRELL PH, PERRY LK, BRADY RO, KARLSSON S: Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. Proc. Natl. Acad. Sci. USA (1990) 87:2334–2338.
  • NOLTA JA, YU XJ, BAHNER I, KOHN DB: Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow. J. Clin. In-vest. (1992) 90:342–348.
  • MANNION-HENDERSON J, KEMP A, MOHNEY T et al.: Effi-cient retroviral mediated transfer of the glucocerebro-sidase gene in CD34+ enriched umbilical cord blood human hematopoietic progenitors. Exp. Hemat. (1995) 23:1628–1632.
  • NOLTA JA, HANLEY MB, KOHN DB: Sustained humanhematopoiesis in immunodeficient mice by cotrans-plantation of marrow stroma expressing human interleukin-3: analysis of gene transduction of long-lived progenitors. Blood (1994) 83:3041–3051.
  • XU LC, KARLSSON S, BYRNE ER et al: Long-term in vivo expression of the human glucocerebrosidase gene in nonhuman primates after CD34+ hematopoietic cell transduction with cell-free retroviral vector prepara-tions. Proc. Natl. Acad. Sci. USA (1995) 92:4372–4376.
  • NALDINI L, BLOMER U, GALLAY P et al: In vivo gene de-livery and stable transduction of nondividing cells by a lentiviral vector. Science (1996) 272:263–267.
  • REISER J, HARMISON G, KLUEPFEL-STAHL S et al: Trans-duction of nondividing cells using pseudotyped defec-tive high-titer HIV Type 1 particles. Proc. Nati Acad. Sci. USA (1996) 93:15266–15271.
  • RUSSELL DW, MILLER AD: Foamy virus vectors. J. Vim]. (1996) 70:217–222.
  • WEI J-F, WEI F-S, SAMULSKI RJ, BARRANGER JA: Expres-sion of the human glucocerebrosidase and arylsulfa-tase A gene in murine and patient primary fibroblasts transduced by an adeno-associated virus vector. Gene Ther. (1994) 1:261–268.
  • OHASHI T, WATABE K, UEHARA K et al.: Adenovirus-mediated gene transfer and expression of human B-gl-ucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis Type VII mice. Proc. Nati Acad. Sci. USA (1997) 94:1287–1292.
  • LIT, DAVIDSON B: Phenotype correction in retinal pig-ment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. Proc. Natl. Acad. Sci. USA (1995) 92:7700–7704.
  • WOLFE JH, DESHMANE SL, FRASER NW: Herpesvirus vec-tor gene transfer and expression of B-glucuronidase in the central nervous system of MPS VII mice. Nature Gen. (1992) 1:379–384.
  • TYBULEWICZ VU, TREMBLAY ML, LAMARCA ME et al: Animal model of Gaucher's disease from targeted dis-ruption of the mouse glucocerebrosidase gene. Nature (1992) 357:407–410.
  • ARAN J, LICHT T, GOTTESMAN MM, PASTAN I: Complete restoration of glucocerebrosidase deficiency in Gau-cher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy. Human Gene Ther. (1996) 7(17)2165–2175.
  • CHOUDARY PV, BARRANGER JA, TSUJI S et al.: Retrovirus-mediated transfer of the human glucocere-brosidase gene to Gaucher fibroblasts. Mol. Biol. Med. (1986) 3(3)293–299.
  • NIMGAONKAR M, BAHNSON A, KEMP A et al.: Long-term expression of the glucocerebrosidase gene in mouse and human hematopoietic precursors. Leukemia (1995) 9:S38–S42.
  • YAMANAKA S, JOHNSON MD, GRINBERG A et al: Tar-geted disruption of the Hexa gene results in mice with the biochemical and pathologic features of Tay-Sachs disease. Proc. Natl. Acad. Sci. USA (1994) 91:9975–9979.
  • AKLI S, GUIDOTTI JE, VIGNE E et al.: Restoration of hexosaminidase A activity in human Tay-Sachs fibro-blasts via adenoviral vector-mediated gene transfer. Gene Ther. (1996) 3:769–774.
  • LACORAZZA HD, FLAX JD, SNYDER EY, JENDOUBI M: Ex-pression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced pro-genitor cells. Nature Med. (1996) 2:424–429.
  • SANGO K, YAMANAKA S, HOFFMANN A et al.: Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Gen. (1995) 11:170–176.
  • PHANEUF D, WAKAMATSU N, HUANG J-Q etal.: Dramati-cally different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum. Mol. Gen. (1996) 5:1–14.
  • MULDOON LL, NEU WELT EA, PAGEL MA, WEISS DL: Char-acterization of the molecular defect in a feline model for Type II GM2-gangliosidosis (Sandhoff disease). Am. Pathol. (1994) 144:1109–1118.
  • HAHN CN, DEL PILAR MARTIN M, SCHRODER M et al: Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid 6-g-alactosidase. Hum. Mol Gen. (1997) 6:205–211.
  • MATSUDA J, SUZUKI O, OSHIMA A et al: Neurological manifestations of knockout mice with B-galactosidase deficiency. Brain Dev. (1997) 19:19–20.
  • OSHIMA A: GM1-gangliosidosis knockout mouse. Brain Dev. (1998) 30:148–151.
  • ALROY J, ORGAD U, DEGASPERI R et al.: Canine GM1-gangliosidosis: a clinical, morphologic, histochemical and biochemical comparison of two different models. Am. J. Pathol. (1992) 140:675–689.
  • HORINOUCHI K, ERLICH S, PERL DP etal.: Acid sphingo-myelinase deficient mice: a model of Type A and B Niemann-Pick disease. Nature Gen. (1995) 10:288–293.
  • OTTERBACH B, STOFFEL W: Acid sphingomyelinase-deficient mice mimic the neurovisceral form of hu-man lysosomal storage disease (Niemann-Pick dis-ease). Cell (1995) 81:1053–1061.
  • MARCH PA, THRALL MA, BROWN DE et al.: GABAergic neuroaxonal dystrophy and other cytopathological al-terations in feline Niemann-Pick disease Type C. Acta Neuropath. (1997) 94:164–172.
  • DINUR T, SCHUCHMAN EH, FIBACH E etal.: Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibro-blasts using a novel fluorescent sphingomyelin. Hu-man Gene Ther. (1992) 3:633–639.
  • SUCHI M, DINUR T, DESNICK RJ et al.: Retroviral-mediated transfer of the human acid sphingomyeli-nase cDNA: correction of the metabolic defect in cul-tured Niemann-Pick disease cells. Proc. Natl. Acad. Sci. USA (1992) 89:3227–3231.
  • OHSHIMA T, MURRAY GJ, SWAIM WD et al.: alpha-Galactosidase A deficient mice: a model of Fabry dis-ease. Proc. Natl. Acad. Sci. USA (1997) 94:2540–2544.
  • MEDIN JA, TUDOR M, SIMOVITCH R et al. 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 vec- tor. Proc. Natl. Acad. ScL USA (1996) 93:7917–7922.
  • HESS B, SAFTIG P, HARTMANN D et al.: Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc. Natl. Acad ScL USA (1996) 93:14821–14826.
  • LEARISH R, OHASHI T, ROBBINS PA etal: Retroviral gene transfer and sustained expression of human arylsulfa-tase A (Stem cells). Gene Ther. (1996) 3:343–349.
  • OHASHI T, ETO Y, LEARISH R, BARRANGER JA: Correc-tion of enzyme deficiency in metachromatic leukodys-trophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene. J. Inherit. Metab. Dis. (1993) 16:881–885.
  • ROMMERSKIRCH W, FLUHARTY AL, PETERS C, VON FIG-URA K, GIESELMANN V: Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fi-broblasts via retroviral-vector-mediated gene trans-fer. Biochem. J. (1991) 280:459–461.
  • OHASHI T, WATABE K, SATO Y et al.: Successful trans-duction of oligodendrocytes and restoration of aryl-sulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vec-tor. Gene Ther. (1995) 2:443–449.
  • CLARKE LA, RUSSELL CS, POWNALL S etal.: Murine muco-polysaccharidosis Type I: targeted disruption of the murine a-L-iduronidase gene. Hum. Mol. Gen. (1997) 6:503–511.
  • SHULL RM, HELMAN RG, SPELLACY E et al: Morphologicand biochemical studies of canine mucopolysaccha-ridosis I. Am. J. Pathol. (1984) 114:487–495.
  • HASKINS ME, JEZYK PF, DESNICK RJ, MCDONOUGH SK,PATTERSON DF: a-L-iduronidase deficiency in a cat: a model of mucopolysaccharidoses I. Pediatr. Res. (1979) 13:1294–1297.
  • HUANG MM, WONG A, YU, KAKKIS E, KOHN DB: Retrovirus-mediated transfer of the human alpha-L-iduronidase cDNA into human hematopoietic pro-genitor cells leads to correction in trans of Hurler fi-broblasts. Gene Ther. (1997) 4:1150–1159.
  • FAIRBAIRN LJ, LASHFORD LS, SPOONCER E et al.: Long-term in vitro correction of alpha-L-iduronidase defi-ciency (Hurler syndrome) in human bone marrow. Proc. Natl. Acad. ScL USA (1996) 93:2025–2030.
  • SHULL RM, LU W, MCENTEE MF et al.: Myoblast gene ther-apy in canine mucopolysaccharidosis. I: abrogation by an immune response to alpha-L-iduronidase. Hu-man Gene Ther. (1996) 7(13):1595–1603.
  • SHULL R, LU X, DUBE I et al.: Humoral immune response limits gene therapy in canine MPS I. Blood (1996) 88:377–379.
  • DI FRANCESCO C, CRACCO C, TOMANIN R et al: In vitrocorrection of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer. Gene Ther. (1997) 4:442–448.
  • BRAUN SE, PAN D, ARONOVICH EL et al.: Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis Type II). Human Gene Ther. (1996) 7:283–290.
  • BRAUN SE, ARONOVICH EL, ANDERSON RA et al.: Meta-bolic correction and cross-correction of mucopolysac-charidosis Type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. Proc. NatL Acad. ScL USA (1993) 90:11830–11834.
  • WHITLEY CB, MCIVOR RS, ARONOVICH EL et al.: Retroviral-mediated transfer of the iduronate-2-sulfatase gene into lymphocytes for treatment of mild Hunter syndrome (mucopolysaccharidosis Type II). Human Gene Ther. (1996) 7:537–549.
  • THOMPSON JN, JONES MZ, DAWSON G, HUFFMAN PS: N-acetylglucosamine 6 sulfatase deficiency in a Nubian goat: a model of Sanfilippo syndrome Type D (muco-polysaccharidosis HID). j Inher. Metab. Dis. (1992) 15:760–768.
  • BIELICKI J, HOPWOOD JJ, ANSON DS: Correction of San-filippo A skin fibroblasts by retroviral vector-mediated gene transfer. Human Gene Ther. (1996) 7:1965–1967.
  • EVERS M, SAFTIG P, SCHMIDT P et al.: Targeted disrup-tion of the arylsulfatase B gene results in mice resem-bling the phenotype of mucopolysaccharidosis VI. Proc. Natl. Acad. ScL USA (1996) 93:8214–8219.
  • JEZYK PF, HASKINS ME, PATTERSON DF, MELLMAN WJ, GREENSTEIN M: Mucopolysaccharidosis in a cat with arylsulfatase B deficiency. A model of Maroteaux-Lamy syndrome. Science (1977) 198:834–836.
  • YOSHIDA M, IKADAI A, MAEKAWA A, TAKAHASHI M, NA-GASE S: Pathological characteristics of mucopolysac-charidosis VI in the rat. J. Comp. Pathol. (1993) 109:141–153.
  • YOGALINGAM G, BIELICKI J, HOPWOOD JJ, ANSON DS:Feline mucopolysaccharidosis Type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene. DNA Cell Biol. (1997) 16:1189–1194.
  • PETERS C, ROMMERSKIRCH W, MODARESSI S, VON FIG-URA K: Restoration of arylsulphatase B activity in hu-man mucopolysaccharidosis-type-VI fibroblasts by retroviral-vector-mediated gene transfer. Biochem. (1991) 276:499–504.
  • BIRKENMEIER EH, DAVISSON MT, BEAMER WG et al.: Murine mucopolysaccharidosis Type VII. Characteri-zation of a mouse with 0-glucuronidase deficiency. J. Clin. Invest. (1989) 83:1258–1266.
  • GITZELMANN R, BOSSHARD NU, SUPERTI-FURGA A et al.: Feline mucopolysaccharidosis VII due to 13-glucuron-idase deficiency. Vet. Pathol (1994) 31:435–443.
  • HASKINS ME, DESNICK RJ, DIFERRANTE N, JEZYIK PF, PATTERSON DF: 0-Glucuronidase deficiency in a dog. A model of human mucopolysaccharidosis Type VII. Pe-diatr. Res. (1984) 18:980–984.
  • WOLFE JH, SCHUCHMAN EH, STRAMM LE et al.: Restora- tion of normal lysosomal function in mucopolysac-charidosis Type VII cells by retroviral vector-mediated gene transfer. Proc. Natl. Acad. ScL USA (1990) 87:2877–2881.
  • SMITH BF, HOFFMAN RK, GIGER U, WOLFE JH: Genes transferred by retroviral vectors into normal and mu-tant myoblasts in primary culture are expressed in myotubes. Mol. Cell. Biol. (1990) 10:3268–3271.
  • BARKER JE, WOLFE JH, ROWE LB, BIRKENMEIER EH: Ad-vantages of gradient vs. 5-fluorouracil enrichment of stem cells for retroviral-mediated gene transfer. Exp. Hem. (1993) 21:47–54.
  • WOLFE JH, SANDS MS, BARKER JE et al: Reversal of pa-thology in murine mucopolysaccharidosis Type VII by somatic cell gene transfer. Nature (1992) 360:749–753.
  • ZARETSKY JZ, CANDOTTI F, BOERKOEL C et al.: Retrovi-ral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion. Human Gene Ther. (1997) 8:1555–1563.
  • KOBAYASHI T, YAMANAKA T, MACOBS JM, TEIXEIRA F, SUZUKI K. The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystro-phy (Krabbe disease). Brain Res. (1980) 202:479–483.
  • VICTORIA T, RAFI MA, WENGER DA: Cloning of the ca-nine GALC cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland White and Cairn terriers. Genomics (1996) 33:457–462.
  • LUZI P, RAFI MA, VICTORIA T, BASKIN GB, WENGER DA:Characterization of the rhesus monkey galactocere-brosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. Genomics (1997) 42:319–324.
  • RAFI MA, FUGARO J, AMINI S et al.: Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC ac-tivity to neighboring cells. Biochem. Mol Med. (1996) 58:142–150.
  • GAMA SOSA MA, DE GASPERI R, UNDEVIA S et al: Correc-tion of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer. Biochem. Biophys. Res. Comm. (1996) 218:766–771.
  • ENOMAA N, DANOS 0, PELTONEN L, JALANKO A: Cor-rection of deficient enzyme activity in a lysosomal storage disease, aspartlyglucosaminuria, by enzyme replacement and retroviral gene transfer. Human Gene Ther. (1995) 6:723–731.
  • FRIEND SC, BARR SC, EMBURY D: Fucosidosis in an Eng-lish springer spaniel presenting as a malabsorption syndrome. Aust. Vet. J. (1985) 62:415–420.
  • FERRARA ML, OCCHIODORO T, FULLER M et al: Canine fucosidosis: a model for retroviral transfer into hema-topoietic stem cells. Neuromusc. Dis. (1997) 7:361–366.

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