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Volumn 21, Issue 7, 2013, Pages 1306-1315

Therapeutic response in feline Sandhoff disease despite immunity to intracranial gene therapy

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE ALPHA CHAIN; BETA N ACETYLHEXOSAMINIDASE BETA CHAIN; COMPLEMENTARY DNA; PARVOVIRUS VECTOR;

EID: 84879693104     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2013.86     Document Type: Article
Times cited : (67)

References (49)
  • 2
    • 0000717468 scopus 로고
    • Symmetrical changes in the region of the yellow spot in each eye of an infant
    • Tay, W (1881). Symmetrical changes in the region of the yellow spot in each eye of an infant. Tran Ophthalmol Soc UK 1: 155-157.
    • (1881) Tran Ophthalmol Soc UK , vol.1 , pp. 155-157
    • Tay, W.1
  • 5
    • 33746691326 scopus 로고    scopus 로고
    • Inefficiency in GM2 ganglioside elimination by human lysosomal β-hexosaminidase β-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice
    • DOI 10.1248/bpb.29.1564
    • Itakura, T, Kuroki, A, Ishibashi, Y, Tsuji, D, Kawashita, E, Higashine, Y et al. (2006). Ineffciency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fbroblastic cell line derived from Sandhoff disease model mice. Biol Pharm Bull 29: 1564-1569. (Pubitemid 44166352)
    • (2006) Biological and Pharmaceutical Bulletin , vol.29 , Issue.8 , pp. 1564-1569
    • Itakura, T.1    Kuroki, A.2    Ishibashi, Y.3    Tsuji, D.4    Kawashita, E.5    Higashine, Y.6    Sakuraba, H.7    Yamanaka, S.8    Itoh, K.9
  • 6
    • 0033520487 scopus 로고    scopus 로고
    • In vivo protein transduction: Delivery of a biologically active protein into the mouse
    • DOI 10.1126/science.285.5433.1569
    • Schwarze, SR, Ho, A, Vocero-Akbani, A and Dowdy, SF (1999). In vivo protein transduction: delivery of a biologically active protein into the mouse. Science 285: 1569-1572. (Pubitemid 29420581)
    • (1999) Science , vol.285 , Issue.5433 , pp. 1569-1572
    • Schwarze, S.R.1    Ho, A.2    Vocero-Akbani, A.3    Dowdy, S.F.4
  • 8
    • 84864540429 scopus 로고    scopus 로고
    • Gene transfer corrects acute GM2 gangliosidosis-potential therapeutic contribution of perivascular enzyme fow
    • Cachón-González, MB, Wang, SZ, McNair, R, Bradley, J, Lunn, D, Ziegler, R et al. (2012). Gene transfer corrects acute GM2 gangliosidosis-potential therapeutic contribution of perivascular enzyme fow. Mol Ther 20: 1489-1500.
    • (2012) Mol Ther , vol.20 , pp. 1489-1500
    • Cachón-González, M.B.1    Wang, S.Z.2    McNair, R.3    Bradley, J.4    Lunn, D.5    Ziegler, R.6
  • 9
    • 0017368366 scopus 로고
    • 2 ganglioside lysosomal storage disease in cats with β hexosaminidase deficiency
    • Cork, LC, Munnell, JF, Lorenz, MD, Murphy, JV, Baker, HJ and Rattazzi, MC (1977). GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase defciency. Science 196: 1014-1017. (Pubitemid 8106059)
    • (1977) Science , vol.196 , Issue.4293 , pp. 1014-1017
    • Cork, L.C.1    Munnelli, J.F.2    Lorenz, M.D.3
  • 10
    • 0018613987 scopus 로고
    • The gangliosidoses: Comparative features and research applications
    • Baker, HJ, Reynolds, GD, Walkley, SU, Cox, NR and Baker, GH (1979). The gangliosidoses: comparative features and research applications. Vet Pathol 16: 635-649. (Pubitemid 10204942)
    • (1979) Veterinary Pathology , vol.16 , Issue.6 , pp. 635-649
    • Baker, H.J.1    Reynolds, G.D.2    Walkley, S.U.3
  • 12
    • 0020018213 scopus 로고
    • Enzyme replacement in feline GM2 gangliosidosis: Catabolic effects of human beta-hexosaminidase A
    • Rattazzi, MC, Appel, AM and Baker, HJ (1982). Enzyme replacement in feline GM2 gangliosidosis: catabolic effects of human beta-hexosaminidase A. Prog Clin Biol Res 94: 213-220.
    • (1982) Prog Clin Biol Res , vol.94 , pp. 213-220
    • Rattazzi, M.C.1    Appel, A.M.2    Baker, H.J.3
  • 13
    • 15844398696 scopus 로고
    • Towards enzyme replacement in GM2 gangliosidosis: Inhibition of hepatic uptake and induction of CNS uptake of human beta-hexosaminidase in the cat
    • Callahan, JW and Lowden, JA (eds) Raven Press: New York, NY.
    • Rattazzi, MC, Appel, AM, Baker, HJ and Nester, JA (1981). Towards enzyme replacement in GM2 gangliosidosis: inhibition of hepatic uptake and induction of CNS uptake of human beta-hexosaminidase in the cat. In: Callahan, JW and Lowden, JA (eds). Lysosomes and Lysosomal Storage Diseases. Raven Press: New York, NY. pp. 213-220.
    • (1981) Lysosomes and Lysosomal Storage Diseases , pp. 213-220
    • Rattazzi, M.C.1    Appel, A.M.2    Baker, H.J.3    Nester, J.A.4
  • 14
    • 0025769357 scopus 로고
    • Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement
    • Walkley, SU, Baker, HJ, Rattazzi, MC, Haskins, ME and Wu, JY (1991). Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement. J Neurol Sci 104: 1-8.
    • (1991) J Neurol Sci , vol.104 , pp. 1-8
    • Walkley, S.U.1    Baker, H.J.2    Rattazzi, M.C.3    Haskins, M.E.4    Wu, J.Y.5
  • 15
    • 0021919817 scopus 로고
    • 2 gangliosidosis
    • DOI 10.1111/j.1471-4159.1985.tb12909.x
    • Wood, PA, McBride, MR, Baker, HJ and Christian, ST (1985). Fluorescence polarization analysis, lipid composition, and Na+, K+-ATPase kinetics of synaptosomal membranes in feline GM1 and GM2 gangliosidosis. J Neurochem 44: 947-956. (Pubitemid 15110065)
    • (1985) Journal of Neurochemistry , vol.44 , Issue.3 , pp. 947-956
    • Wood, P.A.1    McBride, M.R.2    Baker, H.J.3    Christian, S.T.4
  • 16
    • 0025069861 scopus 로고
    • Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease
    • DOI 10.1016/0165-3806(90)90273-2
    • Walkley, SU, Baker, HJ and Rattazzi, MC (1990). Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease. Brain Res Dev Brain Res 51: 167-178. (Pubitemid 20056155)
    • (1990) Developmental Brain Research , vol.51 , Issue.2 , pp. 167-178
    • Walkley, S.U.1    Baker, H.J.2    Rattazzi, M.C.3
  • 17
    • 0025057002 scopus 로고
    • Distribution of ectopic neurite growth and other geometrical distortions of CNS neurons in feline GM2 gangliosidosis
    • DOI 10.1016/0006-8993(90)90728-T
    • Walkley, SU, Wurzelmann, S, Rattazzi, MC and Baker, HJ (1990). Distribution of ectopic neurite growth and other geometrical distortions of CNS neurons in feline GM2 gangliosidosis. Brain Res 510: 63-73. (Pubitemid 20060803)
    • (1990) Brain Research , vol.510 , Issue.1 , pp. 63-73
    • Walkley, S.U.1    Wurzelmann, S.2    Rattazzi, M.C.3    Baker, H.J.4
  • 18
    • 61449148380 scopus 로고    scopus 로고
    • Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease
    • Baek, RC, Martin, DR, Cox, NR and Seyfried, TN (2009). Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. Lipids 44: 197-205.
    • (2009) Lipids , vol.44 , pp. 197-205
    • Baek, R.C.1    Martin, D.R.2    Cox, N.R.3    Seyfried, T.N.4
  • 20
    • 43049180252 scopus 로고    scopus 로고
    • Direct comparison of hepatocyte-specifc expression cassettes following adenoviral and nonviral hydrodynamic gene transfer
    • Jacobs, F, Snoeys, J, Feng, Y, Van Craeyveld, E, Lievens, J, Armentano, D et al. (2008). Direct comparison of hepatocyte-specifc expression cassettes following adenoviral and nonviral hydrodynamic gene transfer. Gene Ther 15: 594-603.
    • (2008) Gene Ther , vol.15 , pp. 594-603
    • Jacobs, F.1    Snoeys, J.2    Feng, Y.3    Van Craeyveld, E.4    Lievens, J.5    Armentano, D.6
  • 23
    • 0032006447 scopus 로고    scopus 로고
    • Gangliosides enhance apoptosis of thymocytes
    • DOI 10.1006/cimm.1998.1247
    • Zhou, J, Shao, H, Cox, NR, Baker, HJ and Ewald, SJ (1998). Gangliosides enhance apoptosis of thymocytes. Cell Immunol 183: 90-98. (Pubitemid 28222264)
    • (1998) Cellular Immunology , vol.183 , Issue.2 , pp. 90-98
    • Zhou, J.1    Shao, H.2    Cox, N.R.3    Baker, H.J.4    Ewald, S.J.5
  • 25
    • 82955203854 scopus 로고    scopus 로고
    • Thymic involution and corticosterone level in Sandhoff disease model mice: New aspects the pathogenesis of GM2 gangliosidosis
    • Matsuoka, K, Tsuji, D, Taki, T and Itoh, K (2011). Thymic involution and corticosterone level in Sandhoff disease model mice: new aspects the pathogenesis of GM2 gangliosidosis. J Inherit Metab Dis 34: 1061-1068.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 1061-1068
    • Matsuoka, K.1    Tsuji, D.2    Taki, T.3    Itoh, K.4
  • 26
    • 64049083111 scopus 로고    scopus 로고
    • Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: Vector diffusion and biodistribution
    • Ciron, C, Cressant, A, Roux, F, Raoul, S, Cherel, Y, Hantraye, P et al. (2009). Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution. Hum Gene Ther 20: 350-360.
    • (2009) Hum Gene Ther , vol.20 , pp. 350-360
    • Ciron, C.1    Cressant, A.2    Roux, F.3    Raoul, S.4    Cherel, Y.5    Hantraye, P.6
  • 27
    • 33847211798 scopus 로고    scopus 로고
    • Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector
    • Sondhi, D, Hackett, NR, Peterson, DA, Stratton, J, Baad, M, Travis, KM et al. (2007). Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-derived adeno-associated virus vector. Mol Ther 15: 481-491.
    • (2007) Mol Ther , vol.15 , pp. 481-491
    • Sondhi, D.1    Hackett, N.R.2    Peterson, D.A.3    Stratton, J.4    Baad, M.5    Travis, K.M.6
  • 30
    • 78650858386 scopus 로고    scopus 로고
    • The complex and evolving story of T cell activation to AAV vector-encoded transgene products
    • Mays, LE and Wilson, JM (2011). The complex and evolving story of T cell activation to AAV vector-encoded transgene products. Mol Ther 19: 16-27.
    • (2011) Mol Ther , vol.19 , pp. 16-27
    • Mays, L.E.1    Wilson, J.M.2
  • 31
    • 32944471565 scopus 로고    scopus 로고
    • Efficient neuronal gene transfer with AAV8 leads to neurotoxic levels of tau or green fluorescent proteins
    • DOI 10.1016/j.ymthe.2005.10.008, PII S1525001605016552
    • Klein, RL, Dayton, RD, Leidenheimer, NJ, Jansen, K, Golde, TE and Zweig, RM (2006). Effcient neuronal gene transfer with AAV8 leads to neurotoxic levels of tau or green fuorescent proteins. Mol Ther 13: 517-527. (Pubitemid 43257619)
    • (2006) Molecular Therapy , vol.13 , Issue.3 , pp. 517-527
    • Klein, R.L.1    Dayton, R.D.2    Leidenheimer, N.J.3    Jansen, K.4    Golde, T.E.5    Zweig, R.M.6
  • 32
    • 0036434879 scopus 로고    scopus 로고
    • Aberrant sprouting and downregulation of tyrosine hydroxylase in lesioned nigrostriatal dopamine neurons induced by long-lasting overexpression of glial cell line derived neurotrophic factor in the striatum by lentiviral gene transfer
    • DOI 10.1006/exnr.2002.8006
    • Georgievska, B, Kirik, D and Björklund, A (2002). Aberrant sprouting and downregulation of tyrosine hydroxylase in lesioned nigrostriatal dopamine neurons induced by long-lasting overexpression of glial cell line derived neurotrophic factor in the striatum by lentiviral gene transfer. Exp Neurol 177: 461-474. (Pubitemid 35366135)
    • (2002) Experimental Neurology , vol.177 , Issue.2 , pp. 461-474
    • Georgievska, B.1    Kirik, D.2    Bjorklund, A.3
  • 33
    • 49449107497 scopus 로고    scopus 로고
    • Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients
    • Shapiro, BE, Logigian, EL, Kolodny, EH and Pastores, GM (2008). Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. Muscle Nerve 38: 1012-1015.
    • (2008) Muscle Nerve , vol.38 , pp. 1012-1015
    • Shapiro, B.E.1    Logigian, E.L.2    Kolodny, E.H.3    Pastores, G.M.4
  • 34
    • 0028336694 scopus 로고
    • Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease)
    • Muldoon, LL, Neuwelt, EA, Pagel, MA and Weiss, DL (1994). Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol 144: 1109-1118.
    • (1994) Am J Pathol , vol.144 , pp. 1109-1118
    • Muldoon, L.L.1    Neuwelt, E.A.2    Pagel, M.A.3    Weiss, D.L.4
  • 35
    • 0037095730 scopus 로고    scopus 로고
    • DNAWorks: An automated method for designing oligonucleotides for PCR-based gene synthesis
    • Hoover, DM and Lubkowski, J (2002). DNAWorks: an automated method for designing oligonucleotides for PCR-based gene synthesis. Nucleic Acids Res 30: e43.
    • (2002) Nucleic Acids Res , vol.30
    • Hoover, D.M.1    Lubkowski, J.2
  • 36
    • 33845970263 scopus 로고    scopus 로고
    • Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery
    • DOI 10.1038/sj.mt.6300004, PII 6300004
    • Broekman, ML, Baek, RC, Comer, LA, Fernandez, JL, Seyfried, TN and Sena-Esteves, M (2007). Complete correction of enzymatic defciency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery. Mol Ther 15: 30-37. (Pubitemid 46043646)
    • (2007) Molecular Therapy , vol.15 , Issue.1 , pp. 30-37
    • Broekman, M.L.D.1    Baek, R.C.2    Comer, L.A.3    Fernandez, J.L.4    Seyfried, T.N.5    Sena-Esteves, M.6
  • 38
    • 32844456598 scopus 로고    scopus 로고
    • Adeno-associated virus vectors serotyped with AAV8 capsid are more efficient than AAV-1 or -2 serotypes for widespread gene delivery to the neonatal mouse brain
    • DOI 10.1016/j.neuroscience.2005.11.057, PII S0306452205013230
    • Broekman, ML, Comer, LA, Hyman, BT and Sena-Esteves, M (2006). Adeno-associated virus vectors serotyped with AAV8 capsid are more effcient than AAV-1 or-2 serotypes for widespread gene delivery to the neonatal mouse brain. Neuroscience 138: 501-510. (Pubitemid 43255560)
    • (2006) Neuroscience , vol.138 , Issue.2 , pp. 501-510
    • Broekman, M.L.D.1    Comer, L.A.2    Hyman, B.T.3    Sena-Esteves, M.4
  • 39
    • 40949120522 scopus 로고    scopus 로고
    • N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice
    • Baek, RC, Kasperzyk, JL, Platt, FM and Seyfried, TN (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
  • 40
    • 0020028769 scopus 로고
    • Differential cellular enrichment of gangliosides in the mouse cerebellum: Analysis using neurological mutants
    • DOI 10.1111/j.1471-4159.1982.tb08662.x
    • Seyfried, TN, Yu, RK and Miyazawa, N (1982). Differential cellular enrichment of gangliosides in the mouse cerebellum: analysis using neurological mutants. J Neurochem 38: 551-559. (Pubitemid 12138716)
    • (1982) Journal of Neurochemistry , vol.38 , Issue.2 , pp. 551-559
    • Seyfried, T.N.1    Ku, R.K.2    Miyazawa, N.3
  • 41
    • 2042454988 scopus 로고    scopus 로고
    • N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis
    • Kasperzyk, JL, El-Abbadi, MM, Hauser, EC, D'Azzo, A, Platt, FM and Seyfried, TN (2004). N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. J Neurochem 89: 645-653. (Pubitemid 38534150)
    • (2004) Journal of Neurochemistry , vol.89 , Issue.3 , pp. 645-653
    • Kasperzyk, J.L.1    El-Abbadi, M.M.2    Hauser, E.C.3    D'Azzo, A.4    Platt, F.M.5    Seyfried, T.N.6
  • 42
    • 0021072977 scopus 로고
    • Analysis of brain lipids by high performance thinlayer chromatography and densitometry
    • Macala, LJ, Yu, RK and Ando, S (1983). Analysis of brain lipids by high performance thin-layer chromatography and densitometry. J Lipid Res 24: 1243-1250. (Pubitemid 14236574)
    • (1983) Journal of Lipid Research , vol.24 , Issue.9 , pp. 1243-1250
    • Macal, L.J.1    Yu, R.K.2    Ando, S.3
  • 43
    • 0018104557 scopus 로고
    • Cerebral, cerebellar, and brain stem gangliosides in mice susceptible to audiogenic seizures
    • Seyfried, TN, Glaser, GH and Yu, RK (1978). Cerebral, cerebellar, and brain stem gangliosides in mice susceptible to audiogenic seizures. J Neurochem 31: 21-27. (Pubitemid 8390973)
    • (1978) Journal of Neurochemistry , vol.31 , Issue.1 , pp. 21-27
    • Seyfried, T.N.1    Glaser, G.H.2    Yu, R.K.3
  • 44
    • 70449158340 scopus 로고
    • A simple method for the isolation and purifcation of total lipides from animal tissues
    • Folch, J, Lees, M and Sloane Stanley, GH (1957). A simple method for the isolation and purifcation of total lipides from animal tissues. J Biol Chem 226: 497-509.
    • (1957) J Biol Chem , vol.226 , pp. 497-509
    • Folch, J.1    Lees, M.2    Sloane Stanley, G.H.3
  • 45
    • 21744460384 scopus 로고    scopus 로고
    • Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice
    • DOI 10.1194/jlr.M400411-JLR200
    • Kasperzyk, JL, d'Azzo, A, Platt, FM, Alroy, J and Seyfried, TN (2005). Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. J Lipid Res 46: 744-751. (Pubitemid 43073284)
    • (2005) Journal of Lipid Research , vol.46 , Issue.4 , pp. 744-751
    • Kasperzyk, J.L.1    D'Azzo, A.2    Platt, F.M.3    Alroy, J.4    Seyfried, T.N.5
  • 46
    • 0018080005 scopus 로고
    • High performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species
    • Ando, S, Chang, NC and Yu, RK (1978). High-performance thin-layer chromatography and densitometric determination of brain ganglioside compositions of several species. Anal Biochem 89: 437-450. (Pubitemid 9067266)
    • (1978) Analytical Biochemistry , vol.89 , Issue.2 , pp. 437-450
    • Ando, S.1    Chang, N.C.2    Yu, R.K.3
  • 48
    • 63649119659 scopus 로고    scopus 로고
    • Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit defciency
    • Bradbury, AM, Morrison, NE, Hwang, M, Cox, NR, Baker, HJ and Martin, DR (2009). Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit defciency. Mol Genet Metab 97: 53-59.
    • (2009) Mol Genet Metab , vol.97 , pp. 53-59
    • Bradbury, A.M.1    Morrison, N.E.2    Hwang, M.3    Cox, N.R.4    Baker, H.J.5    Martin, D.R.6
  • 49
    • 0029360556 scopus 로고
    • In situ assessment of beta-hexosaminidase activity
    • Lacorazza, HD and Jendoubi, M (1995). In situ assessment of beta-hexosaminidase activity. BioTechniques 19: 434-440.
    • (1995) BioTechniques , vol.19 , pp. 434-440
    • Lacorazza, H.D.1    Jendoubi, M.2


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