-
1
-
-
0002623304
-
The GM2 gangliosidoses
-
Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds.). McGraw-Hill: New York
-
Gravel RA, Kabak MM, Proia RL, Sandhoff K, Suzuki K, Suzuki K. The GM2 gangliosidoses. In The Metabolic and Molecular Basis of Inherited Disease, Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B (eds.). McGraw-Hill: New York, 2001; 3827-3876.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3827-3876
-
-
Gravel, R.A.1
Kabak, M.M.2
Proia, R.L.3
Sandhoff, K.4
Suzuki, K.5
Suzuki, K.6
-
2
-
-
33845343984
-
Sphingolipid metabolism diseases
-
Kolter T, Sandhoff K. Sphingolipid metabolism diseases. BBA 2006; 1758: 2057-2079.
-
(2006)
BBA
, vol.1758
, pp. 2057-2079
-
-
Kolter, T.1
Sandhoff, K.2
-
3
-
-
79955432696
-
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis
-
Tsuji D, Akeboshi H, Matsuoka K, et al. Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis. Ann Neurol 2011; 69: 691-701.
-
(2011)
Ann Neurol
, vol.69
, pp. 691-701
-
-
Tsuji, D.1
Akeboshi, H.2
Matsuoka, K.3
-
4
-
-
84897956543
-
Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up
-
DOI: 10.1007/s10545-010-9186-3
-
Masciullo M, Santoro M, Modoni A, et al. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis 2010. DOI: 10.1007/s10545-010-9186-3
-
(2010)
J Inherit Metab Dis
-
-
Masciullo, M.1
Santoro, M.2
Modoni, A.3
-
5
-
-
79957890647
-
Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis
-
Apr 12. DOI:10.1038/mt.2011.27
-
Matsuoka K, Tamura T, Tsuji D, et al. Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis. Mol Ther 2011; Apr 12. DOI:10.1038/mt.2011.27
-
(2011)
Mol Ther
-
-
Matsuoka, K.1
Tamura, T.2
Tsuji, D.3
-
6
-
-
0037036461
-
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: 20177-20184.
-
(2002)
J Biol Chem
, vol.277
, pp. 20177-20184
-
-
Martino, S.1
Emiliani, C.2
Tancini, B.3
-
7
-
-
26444604517
-
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease
-
Martino S, Marconi P, Tancini B, et al. A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease. Hum Mol Genet 2005; 14: 2113-2123.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2113-2123
-
-
Martino, S.1
Marconi, P.2
Tancini, B.3
-
8
-
-
61849113351
-
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology
-
Martino S, di Girolamo I, Cavazzin C, et al. Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology. J Neurochem 2009; 109: 135-147.
-
(2009)
J Neurochem
, vol.109
, pp. 135-147
-
-
Martino, S.1
di Girolamo, I.2
Cavazzin, C.3
-
9
-
-
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. PNAS 2000; 97: 10954-10959.
-
(2000)
PNAS
, vol.97
, pp. 10954-10959
-
-
Wada, R.1
Tifft, C.J.2
Proia, R.L.3
-
10
-
-
0037093476
-
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; 11: 1343-1350.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1343-1350
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
Mi, Y.4
Tifft, C.J.5
Proia, R.L.6
-
11
-
-
10044280324
-
Lysosomal glycosphingolipid recognition by NKT cells
-
Zhou D, Mattner J, Cantu C, 3rd. Lysosomal glycosphingolipid recognition by NKT cells. Science 2004; 306: 1786-1789.
-
(2004)
Science
, vol.306
, pp. 1786-1789
-
-
Zhou, D.1
Mattner, J.2
Cantu III, C.3
-
12
-
-
34247592222
-
Normal development and function of invariant natural killer T cells in mice withisoglobotrihexosylceramide (iGb3) deficiency
-
Porubsky S, Speak AO, Luckow B, Cerundolo V, Platt FM, Gröne HJ. Normal development and function of invariant natural killer T cells in mice withisoglobotrihexosylceramide (iGb3) deficiency. PNAS 2007; 104: 5977-5978.
-
(2007)
PNAS
, vol.104
, pp. 5977-5978
-
-
Porubsky, S.1
Speak, A.O.2
Luckow, B.3
Cerundolo, V.4
Platt, F.M.5
Gröne, H.J.6
-
13
-
-
34249054887
-
The length of lipids bound to human CD1d molecules modulates the affinity of NKT cell TCR and the threshold of NKT cell activation
-
McCarthy C, Shepherd D, Fleire S. The length of lipids bound to human CD1d molecules modulates the affinity of NKT cell TCR and the threshold of NKT cell activation. J Ex Med 2007; 204: 1131-1144.
-
(2007)
J Ex Med
, vol.204
, pp. 1131-1144
-
-
McCarthy, C.1
Shepherd, D.2
Fleire, S.3
-
14
-
-
79251564431
-
Diverse endogenous antigens for mouse NKT cells: self-antigens that are not glycosphingolipids
-
Pei B, Speak AO, Shepherd D. Diverse endogenous antigens for mouse NKT cells: self-antigens that are not glycosphingolipids. J Immunol 2011; 186: 1348-1360.
-
(2011)
J Immunol
, vol.186
, pp. 1348-1360
-
-
Pei, B.1
Speak, A.O.2
Shepherd, D.3
-
15
-
-
77954225471
-
Common and uncommon pathogenic cascades in lysosomal storage diseases
-
Vitner EB, Platt FM, Futerman AH. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem 2010; 285: 20423-20427.
-
(2010)
J Biol Chem
, vol.285
, pp. 20423-20427
-
-
Vitner, E.B.1
Platt, F.M.2
Futerman, A.H.3
-
17
-
-
4043144986
-
Initiation of Immune Responses in Brain Is Promoted by Local Dendritic Cells
-
Karman J, Ling C, Sandor M, Fabry Z. Initiation of Immune Responses in Brain Is Promoted by Local Dendritic Cells. J Immunol 2004; 173: 2353-2361.
-
(2004)
J Immunol
, vol.173
, pp. 2353-2361
-
-
Karman, J.1
Ling, C.2
Sandor, M.3
Fabry, Z.4
-
18
-
-
33744969133
-
CNS dendritic cells: critical participants in CNS inflammation?
-
McMahon EJ, Bailey SL, Miller SD. CNS dendritic cells: critical participants in CNS inflammation? Neurochem Int 2006; 49: 195-203.
-
(2006)
Neurochem Int
, vol.49
, pp. 195-203
-
-
McMahon, E.J.1
Bailey, S.L.2
Miller, S.D.3
-
19
-
-
76949093057
-
Tolerogenic dendritic cells in the control of autoimmune neuroinflammation: an emerging role of protein-glycan interactions
-
Ilarregui JM, Rabinovich GA. Tolerogenic dendritic cells in the control of autoimmune neuroinflammation: an emerging role of protein-glycan interactions. Neuroimmunomodulat 2010; 17: 157-160.
-
(2010)
Neuroimmunomodulat
, vol.17
, pp. 157-160
-
-
Ilarregui, J.M.1
Rabinovich, G.A.2
-
20
-
-
14844340568
-
Differential lysosomal proteolysis in antigen-presenting cells determines antigen fate
-
Delamarre L, Pack M, Chang H, Mellman I, Trombetta ES. Differential lysosomal proteolysis in antigen-presenting cells determines antigen fate. Science 2005; 307: 1630-1634.
-
(2005)
Science
, vol.307
, pp. 1630-1634
-
-
Delamarre, L.1
Pack, M.2
Chang, H.3
Mellman, I.4
Trombetta, E.S.5
-
21
-
-
0037470438
-
Activation of lysosomal function during dendritic cell maturation
-
Trombetta ES, Ebersold M, Garrett W, Pypaert M, Mellman I. Activation of lysosomal function during dendritic cell maturation. Science 2003; 299: 1400-1403.
-
(2003)
Science
, vol.299
, pp. 1400-1403
-
-
Trombetta, E.S.1
Ebersold, M.2
Garrett, W.3
Pypaert, M.4
Mellman, I.5
-
22
-
-
79953215940
-
Coordinated involvement of cathepsins S, D and cystatin C in the commitment of hematopoietic stem cells to dendritic cells
-
Martino S, Tiribuzi R, Ciraci E, et al. Coordinated involvement of cathepsins S, D and cystatin C in the commitment of hematopoietic stem cells to dendritic cells. Int J Biochem Cell B 2011; 43: 775-783.
-
(2011)
Int J Biochem Cell B
, vol.43
, pp. 775-783
-
-
Martino, S.1
Tiribuzi, R.2
Ciraci, E.3
-
23
-
-
10244225227
-
Are interleukin- 16 and thrombopoietin new tools for the in vitro generation of dendritic cells?
-
Della Bella S, Nicola S, Timofeeva I, Villa ML, Santoro A, Berardi AC. Are interleukin- 16 and thrombopoietin new tools for the in vitro generation of dendritic cells? Blood 2004; 104: 4020-4028.
-
(2004)
Blood
, vol.104
, pp. 4020-4028
-
-
Della Bella, S.1
Nicola, S.2
Timofeeva, I.3
Villa, M.L.4
Santoro, A.5
Berardi, A.C.6
-
25
-
-
67650869003
-
Efficient siRNA delivery by the cationic liposome DOTAP in human hematopoietic stem cells differentiating into dendritic cells
-
DOI: 10.1155/2009/410260
-
Martino S, di Girolamo I, Tiribuzi R, D'Angelo F, Datti A, Orlacchio A. Efficient siRNA delivery by the cationic liposome DOTAP in human hematopoietic stem cells differentiating into dendritic cells. J Biomed Biotechnol 2009. DOI: 10.1155/2009/410260
-
(2009)
J Biomed Biotechnol
-
-
Martino, S.1
di Girolamo, I.2
Tiribuzi, R.3
D'Angelo, F.4
Datti, A.5
Orlacchio, A.6
-
26
-
-
61849113351
-
Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology
-
Martino S, di Girolamo I, Cavazzin C, et al. Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology. J Neurochem 2009; 109: 135-147.
-
(2009)
J Neurochem
, vol.109
, pp. 135-147
-
-
Martino, S.1
di Girolamo, I.2
Cavazzin, C.3
-
27
-
-
62149085922
-
Specific determination of {beta}-Galactocerebrosidase activity via competitive inhibition of {beta}-Galactosidase
-
Martino S, Tiribuzi R, Tortori A, et al. Specific determination of {beta}-Galactocerebrosidase activity via competitive inhibition of {beta}-Galactosidase. Clin Chem 2009; 55: 541-548.
-
(2009)
Clin Chem
, vol.55
, pp. 541-548
-
-
Martino, S.1
Tiribuzi, R.2
Tortori, A.3
-
28
-
-
0033996918
-
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects
-
Sopelsa AM, Severini MH, Da Silva CM, Tobo PR, Giugliani R, Coelho JC. Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. Clin Biochem 2000; 33: 125-129.
-
(2000)
Clin Biochem
, vol.33
, pp. 125-129
-
-
Sopelsa, A.M.1
Severini, M.H.2
Da Silva, C.M.3
Tobo, P.R.4
Giugliani, R.5
Coelho, J.C.6
-
29
-
-
0028988037
-
Beta-N-acetylhexosaminidases A and S havesimilar sub-cellular distributions in HL-60 cells
-
Martino S, Emiliani C, Orlacchio A, Hosseini R, Stirling JL. Beta-N-acetylhexosaminidases A and S havesimilar sub-cellular distributions in HL-60 cells. BBA 1995; 1243: 489-495.
-
(1995)
BBA
, vol.1243
, pp. 489-495
-
-
Martino, S.1
Emiliani, C.2
Orlacchio, A.3
Hosseini, R.4
Stirling, J.L.5
-
30
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Analitical Biochemistry 1976; 72: 248-254.
-
(1976)
Analitical Biochemistry
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
31
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001; 4: 402-408.
-
(2001)
Methods
, vol.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
32
-
-
0016802683
-
Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease)
-
Beutler E, Kuhl W, Comings D. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet 1975; 27: 628-638.
-
(1975)
Am J Hum Genet
, vol.27
, pp. 628-638
-
-
Beutler, E.1
Kuhl, W.2
Comings, D.3
-
33
-
-
33744798282
-
Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis
-
Lemieux MJ, Mark BL, Cherney MM, Withers SG, Mahuran DJ, James MN. Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis. J Mol Biol 2006; 359: 913-929.
-
(2006)
J Mol Biol
, vol.359
, pp. 913-929
-
-
Lemieux, M.J.1
Mark, B.L.2
Cherney, M.M.3
Withers, S.G.4
Mahuran, D.J.5
James, M.N.6
-
34
-
-
0018845577
-
The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein
-
Conzelmann K, Sandhoff K. The specificity of human N-acetyl-beta-D-hexosaminidases towards glycosphincolipids is determined by an activator protein. Adv Exp Med Biol 1980; 125: 295-306.
-
(1980)
Adv Exp Med Biol
, vol.125
, pp. 295-306
-
-
Conzelmann, K.1
Sandhoff, K.2
-
35
-
-
70350508581
-
Linking Inflammation to Natural Killer T Cell Activation
-
Epub 2009 Oct 27., e1000226
-
Salio M, Cerundolo V. Linking Inflammation to Natural Killer T Cell Activation. PLoS Biol 2009; e1000226. Epub 2009 Oct 27.
-
(2009)
PLoS Biol
-
-
Salio, M.1
Cerundolo, V.2
-
36
-
-
0037378110
-
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis
-
Jeyakumar M, Thomas R, Elliot-Smith E, et al. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain 2003; 4: 974-987.
-
(2003)
Brain
, vol.4
, pp. 974-987
-
-
Jeyakumar, M.1
Thomas, R.2
Elliot-Smith, E.3
-
37
-
-
0028909644
-
Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease
-
Taniike M, Yamanaka S, Proia RL, Langaman C, Bone-Turrentine T, Suzuki K. Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. Acta Neuropathol 1995; 89: 296-304.
-
(1995)
Acta Neuropathol
, vol.89
, pp. 296-304
-
-
Taniike, M.1
Yamanaka, S.2
Proia, R.L.3
Langaman, C.4
Bone-Turrentine, T.5
Suzuki, K.6
-
38
-
-
0036403765
-
An inducible mouse model of late onset Tay-Sachs disease
-
Jeyakumar M, Smith D, Eliott-Smith E, et al. An inducible mouse model of late onset Tay-Sachs disease. Neurobiol Dis 2002; 3: 201-210.
-
(2002)
Neurobiol Dis
, vol.3
, pp. 201-210
-
-
Jeyakumar, M.1
Smith, D.2
Eliott-Smith, E.3
-
39
-
-
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; 2: 170-176.
-
(1995)
Nat Genet
, vol.2
, pp. 170-176
-
-
Sango, K.1
Yamanaka, S.2
Hoffmann, A.3
-
40
-
-
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; 1: 1-14.
-
(1996)
Hum Mol Genet
, vol.1
, pp. 1-14
-
-
Phaneuf, D.1
Wakamatsu, N.2
Huang, J.Q.3
-
41
-
-
12344251548
-
Inflammation in dilated cardiomyopathy
-
Review.
-
Pankuweit S, Ruppert V, Maisch B. Inflammation in dilated cardiomyopathy. Herz 2004; 8: 788-793. Review.
-
(2004)
Herz
, vol.8
, pp. 788-793
-
-
Pankuweit, S.1
Ruppert, V.2
Maisch, B.3
-
43
-
-
79959198484
-
Lysosomal β-Galactosidase and β-Hexosaminidase Activities Correlate with Clinical Stages of Dementia Associated with Alzheimer's Disease and Type 2 Diabetes Mellitus
-
Dis 2011; Feb 14. DOI: 10.3233/JAD-2011-100525
-
Tiribuzi R, Orlacchio A, Crispoltoni L, et al. Lysosomal β-Galactosidase and β-Hexosaminidase Activities Correlate with Clinical Stages of Dementia Associated with Alzheimer's Disease and Type 2 Diabetes Mellitus. J Alzheimers Dis 2011; Feb 14. DOI: 10.3233/JAD-2011-100525
-
J Alzheimers
-
-
Tiribuzi, R.1
Orlacchio, A.2
Crispoltoni, L.3
|