-
1
-
-
0001070811
-
The GM2 gangliosidoses
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Gravel RA, Clarke JTR, Kabak MM, Mahhuran D, Sandhoff K, Suzuki K. The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill; 1995:2839-2879.
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 2839-2879
-
-
Gravel, R.A.1
Clarke, J.T.R.2
Kabak, M.M.3
Mahhuran, D.4
Sandhoff, K.5
Suzuki, K.6
-
2
-
-
0035232036
-
The GM2 gangliosidoses and the elucidation of the β-hexosaminidase system
-
Sandhoff K. The GM2 gangliosidoses and the elucidation of the β-hexosaminidase system. Adv Genet. 2001;44:67-91.
-
(2001)
Adv Genet
, vol.44
, pp. 67-91
-
-
Sandhoff, K.1
-
3
-
-
0034353085
-
The GM2 gangliosidoses databases: Allelic variation at the HEXA, HEXB, and GM2A gene loci
-
Cordeiro P, Hechtman P, Kaplan F. The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci. Genet Med. 2000;2:319-327.
-
(2000)
Genet Med
, vol.2
, pp. 319-327
-
-
Cordeiro, P.1
Hechtman, P.2
Kaplan, F.3
-
5
-
-
0021885022
-
The cherry-red spot in Tay-Sachs and other storage diseases
-
Kivlin JD, Sanborn GE, Myers GG. The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol. 1985;17:356-360.
-
(1985)
Ann Neurol
, vol.17
, pp. 356-360
-
-
Kivlin, J.D.1
Sanborn, G.E.2
Myers, G.G.3
-
6
-
-
0018870094
-
Sandhoff disease (GM2 gangliosidosis type 2): Histopathology and ultrastructure of the eye
-
Brownstein S, Carpenter S, Polomeno RC, Little JM. Sandhoff disease (GM2 gangliosidosis type 2): histopathology and ultrastructure of the eye. Arch Ophthalmol. 1980;98:1089-1097.
-
(1980)
Arch Ophthalmol
, vol.98
, pp. 1089-1097
-
-
Brownstein, S.1
Carpenter, S.2
Polomeno, R.C.3
Little, J.M.4
-
7
-
-
0027959501
-
Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease
-
Yamanaka S, Johnson MD, Grinberg A, et al. Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci USA. 1994;91:9975-9979.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 9975-9979
-
-
Yamanaka, S.1
Johnson, M.D.2
Grinberg, A.3
-
8
-
-
10744226948
-
Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: Behavioral changes and pathology of the central nervous system
-
Miklyaeva EI, Dong W, Bureau A, et al. Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res. 2004;1001:37-50.
-
(2004)
Brain Res
, vol.1001
, pp. 37-50
-
-
Miklyaeva, E.I.1
Dong, W.2
Bureau, A.3
-
9
-
-
0029113867
-
Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
-
Sango K, Yamanaka S, Hoffmann A, et al. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet. 1995;11:170-176.
-
(1995)
Nat Genet
, vol.11
, pp. 170-176
-
-
Sango, K.1
Yamanaka, S.2
Hoffmann, A.3
-
10
-
-
9044236158
-
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases
-
Phaneuf D, Wakamatsu N, Huang JQ, et al. Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet. 1996;5:1-14.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1-14
-
-
Phaneuf, D.1
Wakamatsu, N.2
Huang, J.Q.3
-
11
-
-
0030610850
-
M2 activator deficiency manifests cerebellar pathology and motor impairment
-
M2 activator deficiency manifests cerebellar pathology and motor impairment. Proc Natl Acad Sci USA. 1997;94:8138-8143.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 8138-8143
-
-
Liu, Y.1
Hoffmann, A.2
Grinberg, A.3
-
12
-
-
0035225852
-
Targeting the hexosaminidase genes: Mouse models of the GM2 gangliosidoses
-
Proia RL. Targeting the hexosaminidase genes: mouse models of the GM2 gangliosidoses. Adv Genet. 2001;44:225-231.
-
(2001)
Adv Genet
, vol.44
, pp. 225-231
-
-
Proia, R.L.1
-
14
-
-
0141613935
-
Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol
-
Bourgoin C, Emiliani C, Kremer EJ, et al. Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol. Gene Ther. 2003;10:1841-1849.
-
(2003)
Gene Ther
, vol.10
, pp. 1841-1849
-
-
Bourgoin, C.1
Emiliani, C.2
Kremer, E.J.3
-
15
-
-
0037365217
-
Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease
-
Yamaguchi A, Katsuyama K, Suzuki K, Kosaka K, Aoki I, Yamanaka S. Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease. J Mol Med. 2003;81:185-193.
-
(2003)
J Mol Med
, vol.81
, pp. 185-193
-
-
Yamaguchi, A.1
Katsuyama, K.2
Suzuki, K.3
Kosaka, K.4
Aoki, I.5
Yamanaka, S.6
-
16
-
-
0030782030
-
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases
-
Huang JQ, Trasler JM, Igdoura S, Michaud J, Hanai N, Gravel RA. Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Hum Mol Genet. 1997;6:1879-1885.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1879-1885
-
-
Huang, J.Q.1
Trasler, J.M.2
Igdoura, S.3
Michaud, J.4
Hanai, N.5
Gravel, R.A.6
-
17
-
-
0034718598
-
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation
-
Wada R, Tifft CJ, Proia RL. Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci USA. 2000;97:10954-10959.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 10954-10959
-
-
Wada, R.1
Tifft, C.J.2
Proia, R.L.3
-
18
-
-
2942563944
-
Deletion of macrophage-inflammatory protein 1α retards neurodegeneration in Sandhoff disease mice
-
Wu Y, Proia RL. Deletion of macrophage-inflammatory protein 1α retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci USA. 2004;101:8425-8430.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 8425-8430
-
-
Wu, Y.1
Proia, R.L.2
-
19
-
-
1342268315
-
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidosis
-
Yamaguchi A, Katsuyama K, Nagahama K, Takai T, Aoki I, Yamanaka S. Possible role of autoantibodies in the pathophysiology of GM2 gangliosidosis. J Clin invest. 2004;113:200-208.
-
(2004)
J Clin Invest
, vol.113
, pp. 200-208
-
-
Yamaguchi, A.1
Katsuyama, K.2
Nagahama, K.3
Takai, T.4
Aoki, I.5
Yamanaka, S.6
-
20
-
-
0032757084
-
Diabetes alters neurite regeneration from mouse retinal explants in culture
-
Takano M, Sango K, Horie H, et al. Diabetes alters neurite regeneration from mouse retinal explants in culture. Neurosci Lett. 1999;275:175-178.
-
(1999)
Neurosci Lett
, vol.275
, pp. 175-178
-
-
Takano, M.1
Sango, K.2
Horie, H.3
-
21
-
-
0036349891
-
Brain-derived neurotrophic factor enhances neurite regeneration from retinal ganglion cells in aged human retina in vitro
-
Takano M, Horie H, Iijima Y, Dezawa M, Sawada H, Ishikawa Y. Brain-derived neurotrophic factor enhances neurite regeneration from retinal ganglion cells in aged human retina in vitro. Exp Eye Res. 2002;74:319-323.
-
(2002)
Exp Eye Res
, vol.74
, pp. 319-323
-
-
Takano, M.1
Horie, H.2
Iijima, Y.3
Dezawa, M.4
Sawada, H.5
Ishikawa, Y.6
-
22
-
-
0036189852
-
Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease
-
Sango K, Yamanaka S, Ajiki K, Tokashiki A, Watabe K. Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease. Neuropathol Appl Neurobiol. 2002;28:23-34.
-
(2002)
Neuropathol Appl Neurobiol
, vol.28
, pp. 23-34
-
-
Sango, K.1
Yamanaka, S.2
Ajiki, K.3
Tokashiki, A.4
Watabe, K.5
-
23
-
-
0343573419
-
Histochemistry and cytochemistry
-
Weiss L, ed. New York: Elsevier Science
-
Padykula HA. Histochemistry and cytochemistry. In: Weiss L, ed. Histology: Cell and Tissue Biology. 5th ed. New York: Elsevier Science; 1983:88-108.
-
(1983)
Histology: Cell and Tissue Biology. 5th Ed.
, pp. 88-108
-
-
Padykula, H.A.1
-
24
-
-
0026088477
-
NGF enhances neurite regeneration from nerve-transected terminals of young adult and aged mouse dorsal root ganglia in vitro
-
Hone H, Bando Y, Chi H, Takenaka T. NGF enhances neurite regeneration from nerve-transected terminals of young adult and aged mouse dorsal root ganglia in vitro. Neurosci Lett. 1991;121:125-128.
-
(1991)
Neurosci Lett
, vol.121
, pp. 125-128
-
-
Hone, H.1
Bando, Y.2
Chi, H.3
Takenaka, T.4
-
25
-
-
0028236717
-
Critical period for degeneration of adult rat retinal ganglion cells and their regeneration capability after axotomy
-
Takano M, Horie H. Critical period for degeneration of adult rat retinal ganglion cells and their regeneration capability after axotomy. Neurosci Lett. 1994;175:129-132.
-
(1994)
Neurosci Lett
, vol.175
, pp. 129-132
-
-
Takano, M.1
Horie, H.2
-
27
-
-
0021333974
-
The area centralis of the retina in the cat and other mammals: Focal point for function and development of the visual system
-
Rapaport DH, Stone J. The area centralis of the retina in the cat and other mammals: focal point for function and development of the visual system. Neurosci. 1984;11:289-301.
-
(1984)
Neurosci
, vol.11
, pp. 289-301
-
-
Rapaport, D.H.1
Stone, J.2
-
28
-
-
33747612075
-
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
-
Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet. 2002;12:1-8.
-
(2002)
Hum Mol Genet
, vol.12
, pp. 1-8
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
Mi, Y.4
Tifft, C.J.5
Proia, R.L.6
-
29
-
-
0012721072
-
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease
-
Pelled D, Riebeling C, van Echten-Deckert G, Sandhoff K, Futerman AH. Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease. Neuropathol Appl Neurobiol. 2003;29:341-349.
-
(2003)
Neuropathol Appl Neurobiol
, vol.29
, pp. 341-349
-
-
Pelled, D.1
Riebeling, C.2
Van Echten-Deckert, G.3
Sandhoff, K.4
Futerman, A.H.5
-
30
-
-
0028324822
-
Effects of ocular injury and the administration of brain-derived neurotrophic factor (BDNF) on the survival and regrowth of axotomized retinal ganglion cells
-
Mansour-Robaey S, Cleake DB, Wang Y-C, Bray GM, Aguayo AJ. Effects of ocular injury and the administration of brain-derived neurotrophic factor (BDNF) on the survival and regrowth of axotomized retinal ganglion cells. Proc Natl Acad Sci USA. 1994;91:1632-1636.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 1632-1636
-
-
Mansour-Robaey, S.1
Cleake, D.B.2
Wang, Y.-C.3
Bray, G.M.4
Aguayo, A.J.5
-
31
-
-
2942648803
-
Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease
-
Buccoliero R, Bodennec J, van Echten-Deckert G, Sandhoff K, Futerman AH. Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease. J Neurochem. 2004;90:80-88.
-
(2004)
J Neurochem
, vol.90
, pp. 80-88
-
-
Buccoliero, R.1
Bodennec, J.2
Van Echten-Deckert, G.3
Sandhoff, K.4
Futerman, A.H.5
-
32
-
-
0034717960
-
The synthesis and transport of lipids for axonal growth and nerve regeneration
-
Vancea JE, Campenotb RB, Vancec DE. The synthesis and transport of lipids for axonal growth and nerve regeneration. Biochem Biophys Acta. 2000;1486:84-96.
-
(2000)
Biochem Biophys Acta
, vol.1486
, pp. 84-96
-
-
Vancea, J.E.1
Campenotb, R.B.2
Vancec, D.E.3
-
33
-
-
0020338405
-
Purification of a new neurotrophic factor from mammalian brain
-
Barde Y-A. Edgar D, Thoenen H. Purification of a new neurotrophic factor from mammalian brain. EMBO J. 1982;1:549-553.
-
(1982)
EMBO J
, vol.1
, pp. 549-553
-
-
Barde, Y.-A.1
Edgar, D.2
Thoenen, H.3
-
34
-
-
0024323650
-
Survival and axonal elongation of adult rat retinal ganglion cells. In vitro effects of lesioned sciatic nerve and brain derived neurotrophic factor
-
Thanos S, Bähr M, Barde Y-A, Vanselow J. Survival and axonal elongation of adult rat retinal ganglion cells. In vitro effects of lesioned sciatic nerve and brain derived neurotrophic factor Eur J Neurosci. 1989;1:92-101.
-
(1989)
Eur J Neurosci
, vol.1
, pp. 92-101
-
-
Thanos, S.1
Bähr, M.2
Barde, Y.-A.3
Vanselow, J.4
-
35
-
-
0029990597
-
Brain-derived neurotrophic factor and neurotrophin-4/5 stimulate growth of axonal branches from regenerating retinal ganglion cells
-
Sawai H, Clarke DB, Kittlerova P, Bray GM, Aguayo AJ. Brain-derived neurotrophic factor and neurotrophin-4/5 stimulate growth of axonal branches from regenerating retinal ganglion cells. J Neurosci. 1996;16:3887-3894.
-
(1996)
J Neurosci
, vol.16
, pp. 3887-3894
-
-
Sawai, H.1
Clarke, D.B.2
Kittlerova, P.3
Bray, G.M.4
Aguayo, A.J.5
-
36
-
-
0028206303
-
Neurotrophin-4/5 increases adult rat retinal ganglion cell survival and neuntes outgrowth in vitro
-
Cohen A, Bray GM, Aguayo AJ. Neurotrophin-4/5 increases adult rat retinal ganglion cell survival and neuntes outgrowth in vitro. J Neurobiol. 1994;25:953-959.
-
(1994)
J Neurobiol
, vol.25
, pp. 953-959
-
-
Cohen, A.1
Bray, G.M.2
Aguayo, A.J.3
|