-
1
-
-
0030058576
-
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel
-
M.A. Rafi, P. Luzi, J. Zlotogora, and D.A. Wenger Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel Hum. Genet. 97 1996 304 308
-
(1996)
Hum. Genet.
, vol.97
, pp. 304-308
-
-
Rafi, M.A.1
Luzi, P.2
Zlotogora, J.3
Wenger, D.A.4
-
2
-
-
0030964590
-
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
-
D.A. Wenger, M.A. Rafi, and P. Luzi Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications Hum. Mutat. 10 1997 268 279
-
(1997)
Hum. Mutat.
, vol.10
, pp. 268-279
-
-
Wenger, D.A.1
Rafi, M.A.2
Luzi, P.3
-
3
-
-
0030924037
-
Adult onset globoid cell leukodystrophy (Krabbe disease): Analysis of galactosylceramidase cDNA from four Japanese patients
-
H. Furuya, Y. Kukita, S. Nagano, Y. Sakai, Y. Yamashita, H. Fukuyama, Y. Inatomi, Y. Saito, R. Koike, S. Tsuji, Y. Fukumaki, K. Hayashi, and T. Kobayashi Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients Hum. Genet. 100 1997 450 456
-
(1997)
Hum. Genet.
, vol.100
, pp. 450-456
-
-
Furuya, H.1
Kukita, Y.2
Nagano, S.3
Sakai, Y.4
Yamashita, Y.5
Fukuyama, H.6
Inatomi, Y.7
Saito, Y.8
Koike, R.9
Tsuji, S.10
Fukumaki, Y.11
Hayashi, K.12
Kobayashi, T.13
-
4
-
-
80053531639
-
Krabbe leukodystrophy in a selected population with high rate of late onset forms: Longer survival linked to c.121G>A (p.Gly41Ser) mutation
-
A. Fiumara, R. Barone, A. Arena, M. Filocamo, W. Lissens, L. Pavone, and G. Sorge Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation Clin. Genet. 80 2011 452 458
-
(2011)
Clin. Genet.
, vol.80
, pp. 452-458
-
-
Fiumara, A.1
Barone, R.2
Arena, A.3
Filocamo, M.4
Lissens, W.5
Pavone, L.6
Sorge, G.7
-
5
-
-
80053056049
-
Insights into Krabbe disease from structures of galactocerebrosidase
-
J.E. Deane, S.C. Graham, N.N. Kim, P.E. Stein, R. McNair, M.B. Cachon-Gonzalez, T.M. Cox, and R.J. Read Insights into Krabbe disease from structures of galactocerebrosidase Proc. Natl. Acad. Sci. USA 108 2011 15169 15173
-
(2011)
Proc. Natl. Acad. Sci. USA
, vol.108
, pp. 15169-15173
-
-
Deane, J.E.1
Graham, S.C.2
Kim, N.N.3
Stein, P.E.4
McNair, R.5
Cachon-Gonzalez, M.B.6
Cox, T.M.7
Read, R.J.8
-
6
-
-
0031932297
-
Twenty five years of the "psychosine hypothesis": A personal perspective of its history and present status
-
K. Suzuki Twenty five years of the "psychosine hypothesis": a personal perspective of its history and present status Neurochem. Res. 23 1998 251 259
-
(1998)
Neurochem. Res.
, vol.23
, pp. 251-259
-
-
Suzuki, K.1
-
7
-
-
0018821962
-
Krabbe disease: A galactosylsphingosine (psychosine) lipidosis
-
L. Svennerholm, M.T. Vanier, and J.E. Mansson Krabbe disease: a galactosylsphingosine (psychosine) lipidosis J. Lipid Res. 21 1980 53 64
-
(1980)
J. Lipid Res.
, vol.21
, pp. 53-64
-
-
Svennerholm, L.1
Vanier, M.T.2
Mansson, J.E.3
-
8
-
-
36348943468
-
Enzyme reconstitution/replacement therapy for lysosomal storage diseases
-
T.A. Burrow, R.J. Hopkin, N.D. Leslie, B.T. Tinkle, and G.A. Grabowski Enzyme reconstitution/replacement therapy for lysosomal storage diseases Curr. Opin. Pediatr. 19 2007 628 635
-
(2007)
Curr. Opin. Pediatr.
, vol.19
, pp. 628-635
-
-
Burrow, T.A.1
Hopkin, R.J.2
Leslie, N.D.3
Tinkle, B.T.4
Grabowski, G.A.5
-
9
-
-
20844453744
-
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease
-
M.L. Escolar, M.D. Poe, J.M. Provenzale, K.C. Richards, J. Allison, S. Wood, D.A. Wenger, D. Pietryga, D. Wall, M. Champagne, R. Morse, W. Krivit, and J. Kurtzberg Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease N. Engl. J. Med. 352 2005 2069 2081
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 2069-2081
-
-
Escolar, M.L.1
Poe, M.D.2
Provenzale, J.M.3
Richards, K.C.4
Allison, J.5
Wood, S.6
Wenger, D.A.7
Pietryga, D.8
Wall, D.9
Champagne, M.10
Morse, R.11
Krivit, W.12
Kurtzberg, J.13
-
10
-
-
69549085113
-
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York
-
P.K. Duffner, V.S. Caviness Jr., R.W. Erbe, M.C. Patterson, K.R. Schultz, D.A. Wenger, and C. Whitley The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York Genet. Med. 11 2009 450 454
-
(2009)
Genet. Med.
, vol.11
, pp. 450-454
-
-
Duffner, P.K.1
Caviness, Jr.V.S.2
Erbe, R.W.3
Patterson, M.C.4
Schultz, K.R.5
Wenger, D.A.6
Whitley, C.7
-
11
-
-
0021085107
-
Partial enzyme deficiencies: Residual activities and the development of neurological disorders
-
E. Conzelmann, and K. Sandhoff Partial enzyme deficiencies: residual activities and the development of neurological disorders Dev. Neurosci. 6 1983 58 71
-
(1983)
Dev. Neurosci.
, vol.6
, pp. 58-71
-
-
Conzelmann, E.1
Sandhoff, K.2
-
12
-
-
34247859067
-
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
-
G.H. Maegawa, M. Tropak, J. Buttner, T. Stockley, F. Kok, J.T. Clarke, and D.J. Mahuran Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis J. Biol. Chem. 282 2007 9150 9161
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 9150-9161
-
-
Maegawa, G.H.1
Tropak, M.2
Buttner, J.3
Stockley, T.4
Kok, F.5
Clarke, J.T.6
Mahuran, D.J.7
-
13
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
G.H. Maegawa, M.B. Tropak, J.D. Buttner, B.A. Rigat, M. Fuller, D. Pandit, L. Tang, G.J. Kornhaber, Y. Hamuro, J.T. Clarke, and D.J. Mahuran Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease J. Biol. Chem. 284 2009 23502 23516
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
Rigat, B.A.4
Fuller, M.5
Pandit, D.6
Tang, L.7
Kornhaber, G.J.8
Hamuro, Y.9
Clarke, J.T.10
Mahuran, D.J.11
-
14
-
-
79951846714
-
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity
-
J.J. Marugan, W. Zheng, O. Motabar, N. Southall, E. Goldin, W. Westbroek, B.K. Stubblefield, E. Sidransky, R.A. Aungst, W.A. Lea, A. Simeonov, W. Leister, and C.P. Austin Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity J. Med. Chem. 54 2011 1033 1058
-
(2011)
J. Med. Chem.
, vol.54
, pp. 1033-1058
-
-
Marugan, J.J.1
Zheng, W.2
Motabar, O.3
Southall, N.4
Goldin, E.5
Westbroek, W.6
Stubblefield, B.K.7
Sidransky, E.8
Aungst, R.A.9
Lea, W.A.10
Simeonov, A.11
Leister, W.12
Austin, C.P.13
-
15
-
-
84856220345
-
A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide
-
O. Motabar, E. Goldin, W. Leister, K. Liu, N. Southall, W. Huang, J.J. Marugan, E. Sidransky, and W. Zheng A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide Anal. Bioanal. Chem. 402 2012 731 739
-
(2012)
Anal. Bioanal. Chem.
, vol.402
, pp. 731-739
-
-
Motabar, O.1
Goldin, E.2
Leister, W.3
Liu, K.4
Southall, N.5
Huang, W.6
Marugan, J.J.7
Sidransky, E.8
Zheng, W.9
-
16
-
-
34548650256
-
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
-
W. Zheng, J. Padia, D.J. Urban, A. Jadhav, O. Goker-Alpan, A. Simeonov, E. Goldin, D. Auld, M.E. LaMarca, J. Inglese, C.P. Austin, and E. Sidransky Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease Proc. Natl. Acad. Sci. USA 104 2007 13192 13197
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 13192-13197
-
-
Zheng, W.1
Padia, J.2
Urban, D.J.3
Jadhav, A.4
Goker-Alpan, O.5
Simeonov, A.6
Goldin, E.7
Auld, D.8
Lamarca, M.E.9
Inglese, J.10
Austin, C.P.11
Sidransky, E.12
-
17
-
-
83755229176
-
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease
-
H. Geng, G. Whiteley, J. Ribbens, W. Zheng, N. Southall, X. Hu, J.J. Marugan, M. Ferrer, and G.H. Maegawa Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease PLoS One 6 2011 e29504
-
(2011)
PLoS One
, vol.6
, pp. 29504
-
-
Geng, H.1
Whiteley, G.2
Ribbens, J.3
Zheng, W.4
Southall, N.5
Hu, X.6
Marugan, J.J.7
Ferrer, M.8
Maegawa, G.H.9
-
18
-
-
0026605762
-
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-d- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease
-
G. Wiederschain, S. Raghavan, and E. Kolodny Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-d-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease Clin. Chim. Acta 205 1992 87 96
-
(1992)
Clin. Chim. Acta
, vol.205
, pp. 87-96
-
-
Wiederschain, G.1
Raghavan, S.2
Kolodny, E.3
-
19
-
-
77951539364
-
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones
-
W.C. Lee, D. Kang, E. Causevic, A.R. Herdt, E.A. Eckman, and C.B. Eckman Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones J. Neurosci. 30 2010 5489 5497
-
(2010)
J. Neurosci.
, vol.30
, pp. 5489-5497
-
-
Lee, W.C.1
Kang, D.2
Causevic, E.3
Herdt, A.R.4
Eckman, E.A.5
Eckman, C.B.6
-
20
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
M.M. Bradford A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding Anal. Biochem. 72 1976 248 254
-
(1976)
Anal. Biochem.
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
21
-
-
0030915617
-
Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies
-
M. Chatelut, K. Harzer, H. Christomanou, J. Feunteun, M.T. Pieraggi, B.C. Paton, Y. Kishimoto, J.S. O'Brien, J.P. Basile, J.C. Thiers, R. Salvayre, and T. Levade Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies Clin. Chim. Acta 262 1997 61 76
-
(1997)
Clin. Chim. Acta
, vol.262
, pp. 61-76
-
-
Chatelut, M.1
Harzer, K.2
Christomanou, H.3
Feunteun, J.4
Pieraggi, M.T.5
Paton, B.C.6
Kishimoto, Y.7
O'Brien, J.S.8
Basile, J.P.9
Thiers, J.C.10
Salvayre, R.11
Levade, T.12
-
22
-
-
33746789921
-
Quantitative high-throughput screening: A titration-based approach that efficiently identifies biological activities in large chemical libraries
-
J. Inglese, D.S. Auld, A. Jadhav, R.L. Johnson, A. Simeonov, A. Yasgar, W. Zheng, and C.P. Austin Quantitative high-throughput screening: a titration-based approach that efficiently identifies biological activities in large chemical libraries Proc. Natl. Acad. Sci. USA 103 2006 11473 11478
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 11473-11478
-
-
Inglese, J.1
Auld, D.S.2
Jadhav, A.3
Johnson, R.L.4
Simeonov, A.5
Yasgar, A.6
Zheng, W.7
Austin, C.P.8
-
23
-
-
0033003760
-
A simple statistical parameter for use in evaluation and validation of high throughput screening assays
-
J.H. Zhang, T.D. Chung, and K.R. Oldenburg A simple statistical parameter for use in evaluation and validation of high throughput screening assays J. Biomol. Screen. 4 1999 67 73
-
(1999)
J. Biomol. Screen.
, vol.4
, pp. 67-73
-
-
Zhang, J.H.1
Chung, T.D.2
Oldenburg, K.R.3
-
24
-
-
0020420799
-
The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease
-
J.E. Mansson, and L. Svennerholm The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease Clin. Chim. Acta 126 1982 127 133
-
(1982)
Clin. Chim. Acta
, vol.126
, pp. 127-133
-
-
Mansson, J.E.1
Svennerholm, L.2
-
25
-
-
0014806327
-
Globoid cell leucodystrophy (Krabbe's disease): Deficiency of galactocerebroside-β-galactosidase
-
K. Suzuki, and Y. Suzuki Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside-β-galactosidase Proc. Natl. Acad. Sci. USA 66 1970 302 309
-
(1970)
Proc. Natl. Acad. Sci. USA
, vol.66
, pp. 302-309
-
-
Suzuki, K.1
Suzuki, Y.2
-
26
-
-
0023751677
-
Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology
-
C. Hohenschutz, W. Friedl, K.H. Schlor, A. Waheed, E. Conzelmann, K. Sandhoff, and P. Propping Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology Am. J. Med. Genet. 31 1988 169 175
-
(1988)
Am. J. Med. Genet.
, vol.31
, pp. 169-175
-
-
Hohenschutz, C.1
Friedl, W.2
Schlor, K.H.3
Waheed, A.4
Conzelmann, E.5
Sandhoff, K.6
Propping, P.7
-
27
-
-
78650917056
-
An open-label phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)
-
J.T. Clarke, D.J. Mahuran, S. Sathe, E.H. Kolodny, B.A. Rigat, J.A. Raiman, and M.B. Tropak An open-label phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants) Mol. Genet. Metab. 102 2011 6 12
-
(2011)
Mol. Genet. Metab.
, vol.102
, pp. 6-12
-
-
Clarke, J.T.1
Mahuran, D.J.2
Sathe, S.3
Kolodny, E.H.4
Rigat, B.A.5
Raiman, J.A.6
Tropak, M.B.7
-
28
-
-
84856411368
-
Pharmacological chaperone therapy for Fabry disease
-
S. Ishii Pharmacological chaperone therapy for Fabry disease Proc. Jpn. Acad. B 88 2012 18 30
-
(2012)
Proc. Jpn. Acad. B
, vol.88
, pp. 18-30
-
-
Ishii, S.1
-
29
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
T.W. Mu, D.S. Ong, Y.J. Wang, W.E. Balch, J.R. Yates III, L. Segatori, and J.W. Kelly Chemical and biological approaches synergize to ameliorate protein-folding diseases Cell 134 2008 769 781
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.2
Wang, Y.J.3
Balch, W.E.4
Yates Iii, J.R.5
Segatori, L.6
Kelly, J.W.7
|