-
1
-
-
0001070811
-
The GM2 gangliosidoses
-
Scriver, CR, Beaudet, AL, Sly, WS and Valle, D (eds) McGraw-Hill, Inc.: New York
-
Gravel, RA, Clarke, JTR, Kaback, MM, Mahuran, D, Sandhoff, K and Suzuki, K (1995). The GM2 gangliosidoses. In: Scriver, CR, Beaudet, AL, Sly, WS and Valle, D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn., vol. 2. McGraw-Hill, Inc.: New York. pp. 2839-2879.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, vol.2
, pp. 2839-2879
-
-
Gravel, R.A.1
Clarke, J.T.R.2
Kaback, M.M.3
Mahuran, D.4
Sandhoff, K.5
Suzuki, K.6
-
2
-
-
0000717468
-
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
-
3
-
-
26944461202
-
Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts
-
DOI 10.1016/j.nbd.2005.04.017, PII S0969996105001336
-
Arf, A, Bourgoin, C, Basso, L, Emiliani, C, Tancini, B, Chigorno, V et al. (2005). Bicistronic lentiviral vector corrects beta-hexosaminidase defciency in transduced and cross-corrected human Sandhoff fbroblasts. Neurobiol Dis 20: 583-593. (Pubitemid 41476284)
-
(2005)
Neurobiology of Disease
, vol.20
, Issue.2
, pp. 583-593
-
-
Arfi, A.1
Bourgoin, C.2
Basso, L.3
Emiliani, C.4
Tancini, B.5
Chigorno, V.6
Li, Y.-T.7
Orlacchio, A.8
Poenaru, L.9
Sonnino, S.10
Caillaud, C.11
-
4
-
-
0032931554
-
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice
-
Guidotti, JE, Mignon, A, Haase, G, Caillaud, C, McDonell, N, Kahn, A et al. (1999). Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-defcient knock-out mice. Hum Mol Genet 8: 831-838. (Pubitemid 29189050)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.5
, pp. 831-838
-
-
Guidotti, J.E.1
Mignon, A.2
Haase, G.3
Caillaud, C.4
McDonell, N.5
Kahn, A.6
Poenaru, L.7
-
5
-
-
33746691326
-
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
-
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
-
7
-
-
33745925879
-
Effective gene therapy in an authentic model of Tay-Sachs-related diseases
-
DOI 10.1073/pnas.0603765103
-
Cachón-González, MB, Wang, SZ, Lynch, A, Ziegler, R, Cheng, SH and Cox, TM (2006). Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci USA 103: 10373-10378. (Pubitemid 44051174)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.27
, pp. 10373-10378
-
-
Cachon-Gonzalez, M.B.1
Wang, S.Z.2
Lynch, A.3
Ziegler, R.4
Cheng, S.H.5
Cox, T.M.6
-
8
-
-
84864540429
-
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
-
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
-
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
-
11
-
-
1842714246
-
M2 gangliosidosis variant 0
-
DOI 10.1016/j.expneurol.2004.01.008, PII S0014488604000184
-
Martin, DR, Krum, BK, Varadarajan, GS, Hathcock, TL, Smith, BF and Baker, HJ (2004). An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol 187: 30-37. (Pubitemid 38470009)
-
(2004)
Experimental Neurology
, vol.187
, Issue.1
, pp. 30-37
-
-
Martin, D.R.1
Krum, B.K.2
Varadarajan, G.S.3
Hathcock, T.L.4
Smith, B.F.5
Baker, H.J.6
-
12
-
-
0020018213
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
19
-
-
34547208774
-
Combination brain and systemic injections of AAV provide maximal functional and survival benefits in the Niemann-Pick mouse
-
DOI 10.1073/pnas.0703509104
-
Passini, MA, Bu, J, Fidler, JA, Ziegler, RJ, Foley, JW, Dodge, JC et al. (2007). Combination brain and systemic injections of AAV provide maximal functional and survival benefts in the Niemann-Pick mouse. Proc Natl Acad Sci USA 104: 9505-9510. (Pubitemid 47185809)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.22
, pp. 9505-9510
-
-
Passini, M.A.1
Bu, J.2
Fidler, J.A.3
Ziegler, R.J.4
Foley, J.W.5
Dodge, J.C.6
Yang, W.W.7
Clarke, J.8
Taksir, T.V.9
Griffiths, D.A.10
Zhao, M.A.11
O'Riordan, C.R.12
Schuchman, E.H.13
Shihabuddin, L.S.14
Cheng, S.H.15
-
20
-
-
43049180252
-
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
-
21
-
-
0032510934
-
Thymic alterations in feline GM1 gangliosidosis
-
DOI 10.1016/S0165-2427(98)00113-5, PII S0165242798001135
-
Cox, NR, Ewald, SJ, Morrison, NE, Gentry, AS, Schuler, M and Baker, HJ (1998). Thymic alterations in feline GM1 gangliosidosis. Vet Immunol Immunopathol 63: 335-353. (Pubitemid 28446300)
-
(1998)
Veterinary Immunology and Immunopathology
, vol.63
, Issue.4
, pp. 335-353
-
-
Cox, N.R.1
Ewald, S.J.2
Morrison, N.E.3
Gentry, A.S.4
Schuler, M.5
Baker, H.J.6
-
22
-
-
0032491310
-
Evaluation of GMI ganglioside-mediated apoptosis in feline thymocytes
-
DOI 10.1016/S0165-2427(98)00180-9, PII S0165242798001809
-
Zhou, J, Cox, NR, Ewald, SJ, Morrison, NE and Basker, HJ (1998). Evaluation of GM1 ganglioside-mediated apoptosis in feline thymocytes. Vet Immunol Immunopathol 66: 25-42. (Pubitemid 28535467)
-
(1998)
Veterinary Immunology and Immunopathology
, vol.66
, Issue.1
, pp. 25-42
-
-
Zhou, J.1
Cox, N.R.2
Ewald, S.J.3
Morrison, N.E.4
Basker, H.J.5
-
23
-
-
0032006447
-
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
-
24
-
-
77957816698
-
Thymic alterations in GM2 gangliosidoses model mice
-
Kanzaki, S, Yamaguchi, A, Yamaguchi, K, Kojima, Y, Suzuki, K, Koumitsu, N et al. (2010). Thymic alterations in GM2 gangliosidoses model mice. PLoS ONE 5 (8): e12105.
-
(2010)
PLoS ONE
, vol.5
, Issue.8
-
-
Kanzaki, S.1
Yamaguchi, A.2
Yamaguchi, K.3
Kojima, Y.4
Suzuki, K.5
Koumitsu, N.6
-
25
-
-
82955203854
-
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
-
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
-
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
-
28
-
-
34548759601
-
Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease
-
DOI 10.1038/sj.mt.6300249, PII 6300249
-
Cabrera-Salazar, MA, Roskelley, EM, Bu, J, Hodges, BL, Yew, N, Dodge, JC et al. (2007). Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease. Mol Ther 15: 1782-1788. (Pubitemid 47434184)
-
(2007)
Molecular Therapy
, vol.15
, Issue.10
, pp. 1782-1788
-
-
Cabrera-Salazar, M.A.1
Roskelley, E.M.2
Bu, J.3
Hodges, B.L.4
Yew, N.5
Dodge, J.C.6
Shihabuddin, L.S.7
Sohar, I.8
Sleat, D.E.9
Scheule, R.K.10
Davidson, B.L.11
Cheng, S.H.12
Lobel, P.13
Passini, M.A.14
-
29
-
-
14844284635
-
Effective gene therapy for an inherited CNS disease in a large animal model
-
DOI 10.1002/ana.20392
-
Vite, CH, McGowan, JC, Niogi, SN, Passini, MA, Drobatz, KJ, Haskins, ME et al. (2005). Effective gene therapy for an inherited CNS disease in a large animal model. Ann Neurol 57: 355-364. (Pubitemid 40343957)
-
(2005)
Annals of Neurology
, vol.57
, Issue.3
, pp. 355-364
-
-
Vite, C.H.1
McGowan, J.C.2
Niogi, S.3
Passini, M.A.4
Drobatz, K.J.5
Haskins, M.E.6
Wolfe, J.H.7
-
30
-
-
78650858386
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
37
-
-
0038529698
-
Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease
-
DOI 10.1016/S1525-0016(03)00066-2
-
Matalon, R, Surendran, S, Rady, PL, Quast, MJ, Campbell, GA, Matalon, KM et al. (2003). Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease. Mol Ther 7(5 Pt 1): 580-587. (Pubitemid 36626237)
-
(2003)
Molecular Therapy
, vol.7
, Issue.5
, pp. 580-587
-
-
Matalon, R.1
Surendran, S.2
Rady, P.L.3
Quast, M.J.4
Campbell, G.A.5
Matalon, K.M.6
Tyring, S.K.7
Wei, J.8
Peden, C.S.9
Ezell, E.L.10
Muzyczka, N.11
Mandel, R.J.12
-
38
-
-
32844456598
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
47
-
-
43249114793
-
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
-
Martin, DR, Rigat, BA, Foureman, P, Varadarajan, GS, Hwang, M, Krum, BK et al. (2008). Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab 94: 212-221.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 212-221
-
-
Martin, D.R.1
Rigat, B.A.2
Foureman, P.3
Varadarajan, G.S.4
Hwang, M.5
Krum, B.K.6
-
48
-
-
63649119659
-
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
-
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
|