-
1
-
-
17644422131
-
Gaucher disease: Pathological mechanisms and modern management
-
DOI 10.1111/j.1365-2141.2004.05351.x
-
M Jmoudiak AH Futerman 2005 Gaucher disease: pathological mechanisms and modern management Br J Haematol 129 178 188 1:CAS:528:DC%2BD2MXktl2htbc%3D 10.1111/j.1365-2141.2004.05351.x 15813845 (Pubitemid 40562438)
-
(2005)
British Journal of Haematology
, vol.129
, Issue.2
, pp. 178-188
-
-
Jmoudiak, M.1
Futerman, A.H.2
-
2
-
-
33751216866
-
Detection of 12 new mutations in Gaucher disease Brazilian patients
-
DOI 10.1016/j.bcmd.2006.09.004, PII S1079979606001987
-
R Rozenberg DC Fox E Sobreira, et al. 2006 Detection of 12 new mutations in Gaucher disease Brazilian patients Blood Cells Mol Dis 37 204 209 1:CAS:528:DC%2BD28Xht1CisL7I 10.1016/j.bcmd.2006.09.004 17059888 (Pubitemid 44781086)
-
(2006)
Blood Cells, Molecules, and Diseases
, vol.37
, Issue.3
, pp. 204-209
-
-
Rozenberg, R.1
Fox, D.C.2
Sobreira, E.3
Pereira, L.V.4
-
3
-
-
34247563469
-
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain
-
DOI 10.1007/s10038-007-0135-4
-
P Alfonso S Aznarez M Giralt, et al. 2007 Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain J Hum Genet 52 391 396 1:CAS:528:DC%2BD2sXks1yns7s%3D 10.1007/s10038-007-0135-4 17427031 (Pubitemid 46669310)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.5
, pp. 391-396
-
-
Alfonso, P.1
Aznarez, S.2
Giralt, M.3
Pocovi, M.4
Giraldo, P.5
-
4
-
-
0033826442
-
Report of the Spanish Gaucher's disease registry: Clinical and genetic characteristics
-
1:STN:280:DC%2BD3M%2FksFyksg%3D%3D 10942924
-
P Giraldo M Pocovi J Perez-Calvo, et al. 2000 Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics Haematologica 85 792 799 1:STN:280:DC%2BD3M%2FksFyksg%3D%3D 10942924
-
(2000)
Haematologica
, vol.85
, pp. 792-799
-
-
Giraldo, P.1
Pocovi, M.2
Perez-Calvo, J.3
-
5
-
-
0025029919
-
Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase
-
DOI 10.1111/j.1432-1033.1990.tb19173.x
-
S Van Weely JM Aerts MB Van Leeuwen 1990 Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase Eur J Biochem 191 669 677 1:CAS:528:DyaK3cXlsV2gs7w%3D 10.1111/j.1432-1033.1990. tb19173.x 2143986 (Pubitemid 20265776)
-
(1990)
European Journal of Biochemistry
, vol.191
, Issue.3
, pp. 669-677
-
-
Van Weely, S.1
Aerts, J.M.F.G.2
Van Leeuwen, M.B.3
Heikoop, J.C.4
Donker-Koopman, W.E.5
Barranger, J.A.6
Tager, J.M.7
Schram, A.W.8
-
6
-
-
0042354624
-
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
-
DOI 10.1038/sj.embor.embor873
-
H Dvir M Harel AA McCarthy, et al. 2003 X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease EMBO Rep 4 704 709 1:CAS:528:DC%2BD3sXltVWhur4%3D 10.1038/sj.embor.embor873 12792654 (Pubitemid 36974756)
-
(2003)
EMBO Reports
, vol.4
, Issue.7
, pp. 704-709
-
-
Dvir, H.1
Harel, M.2
McCarthy, A.A.3
Toker, L.4
Silman, I.5
Futerman, A.H.6
Sussman, J.L.7
-
7
-
-
0036355835
-
The active site of human glucocerebrosidase: Structural predictions and experimental validations
-
1:CAS:528:DC%2BD38Xos12ltbw%3D 12360744
-
S Fabrega P Durand JP Mornon, et al. 2002 The active site of human glucocerebrosidase: structural predictions and experimental validations J Soc Biol 196 151 160 1:CAS:528:DC%2BD38Xos12ltbw%3D 12360744
-
(2002)
J Soc Biol
, vol.196
, pp. 151-160
-
-
Fabrega, S.1
Durand, P.2
Mornon, J.P.3
-
8
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 anti type 3 gaucher disease
-
DOI 10.1086/302925
-
V Koprivica DL Stone JK Park, et al. 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease Am J Hum Genet 66 1777 1786 1:CAS:528:DC%2BD3cXntV2jtbo%3D 10.1086/302925 10796875 (Pubitemid 30480085)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.6
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
Callahan, M.4
Frisch, A.5
Cohen, I.J.6
Tayebi, N.7
Sidransky, E.8
-
9
-
-
64549119033
-
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
-
10.1002/ajh.21362 19260119
-
TH Taddei KA Kacena M Yang, et al. 2009 The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients Am J Hematol 84 208 214 10.1002/ajh.21362 19260119
-
(2009)
Am J Hematol
, vol.84
, pp. 208-214
-
-
Taddei, T.H.1
Kacena, K.A.2
Yang, M.3
-
10
-
-
0036831934
-
Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype
-
1:CAS:528:DC%2BD38XpslerurY%3D 12489486
-
E Beutler C West 2002 Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype Isr Med Assoc J 4 986 988 1:CAS:528:DC%2BD38XpslerurY%3D 12489486
-
(2002)
Isr Med Assoc J
, vol.4
, pp. 986-988
-
-
Beutler, E.1
West, C.2
-
11
-
-
33745242833
-
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
-
1:CAS:528:DC%2BD28XnsVWjur0%3D 10.1002/jgm.901 16528760
-
KA McEachern JB Nietupski WL Chuang, et al. 2006 AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease J Gene Med 8 719 729 1:CAS:528: DC%2BD28XnsVWjur0%3D 10.1002/jgm.901 16528760
-
(2006)
J Gene Med
, vol.8
, pp. 719-729
-
-
McEachern, K.A.1
Nietupski, J.B.2
Chuang, W.L.3
-
12
-
-
65249168134
-
Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease
-
1:CAS:528:DC%2BD1MXkvVKgu7g%3D 10.1634/stemcells.2008-0844 19056909
-
IB Enquist E Nilsson JE Mansson, et al. 2009 Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease Stem Cells 27 744 752 1:CAS:528:DC%2BD1MXkvVKgu7g%3D 10.1634/stemcells.2008-0844 19056909
-
(2009)
Stem Cells
, vol.27
, pp. 744-752
-
-
Enquist, I.B.1
Nilsson, E.2
Mansson, J.E.3
-
13
-
-
0025695103
-
Acid beta-glucosidase: Enzymology and molecular biology of Gaucher disease
-
1:CAS:528:DyaK3MXltlaktb8%3D 10.3109/10409239009090616 2127241
-
GA Grabowski S Gatt M Horowitz 1990 Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease Crit Rev Biochem Mol Biol 25 385 414 1:CAS:528:DyaK3MXltlaktb8%3D 10.3109/10409239009090616 2127241
-
(1990)
Crit Rev Biochem Mol Biol
, vol.25
, pp. 385-414
-
-
Grabowski, G.A.1
Gatt, S.2
Horowitz, M.3
-
14
-
-
33646785014
-
Saposin B binds and transfers phospholipids
-
DOI 10.1194/jlr.M500547-JLR200
-
F Ciaffoni M Tatti A Boe, et al. 2006 Saposin B binds and transfers phospholipids J Lipid Res 47 1045 1053 1:CAS:528:DC%2BD28XkvVCgsrw%3D 10.1194/jlr.M500547-JLR200 16461955 (Pubitemid 43764700)
-
(2006)
Journal of Lipid Research
, vol.47
, Issue.5
, pp. 1045-1053
-
-
Ciaffoni, F.1
Tatti, M.2
Boe, A.3
Salvioli, R.4
Fluharty, A.5
Sonnino, S.6
Vaccaro, A.M.7
-
15
-
-
0033028948
-
Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: Clinical course, neuropathology and brain lipid composition in this Gaucher disease variant
-
DOI 10.1007/s004010050960
-
T Pampols M Pineda ML Giros, et al. 1999 Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant Acta Neuropathol (Berl) 97 91 97 1:CAS:528:DyaK1cXns1Wntbw%3D 10.1007/s004010050960 (Pubitemid 29132651)
-
(1999)
Acta Neuropathologica
, vol.97
, Issue.1
, pp. 91-97
-
-
Pampols, T.1
Pineda, M.2
Giros, M.L.3
Ferrer, I.4
Cusi, V.5
Chabas, A.6
Sanmarti, F.X.7
Vanier, M.T.8
Christomanou, H.9
-
16
-
-
0020353159
-
Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between type i and type III
-
1:STN:280:DyaL3s7gtlKisw%3D%3D 10.1111/j.1399-0004.1982.tb01445.x 7151312
-
O Nilsson G Hakansson S Dreborg, et al. 1982 Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III Clin Genet 22 274 279 1:STN:280:DyaL3s7gtlKisw%3D%3D 10.1111/j.1399-0004.1982.tb01445.x 7151312
-
(1982)
Clin Genet
, vol.22
, pp. 274-279
-
-
Nilsson, O.1
Hakansson, G.2
Dreborg, S.3
-
17
-
-
0032559778
-
Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy
-
DOI 10.1016/S0009-8981(97)00241-6, PII S0009898197002416
-
R Gornati B Bembi X Tong, et al. 1998 Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy Clin Chim Acta 271 151 161 10.1016/S0009-8981(97)00241-6 9565330 (Pubitemid 28135213)
-
(1998)
Clinica Chimica Acta
, vol.271
, Issue.2
, pp. 151-161
-
-
Gornati, R.1
Bembi, B.2
Tong, X.3
Boscolo, R.4
Berra, B.5
-
18
-
-
0020403317
-
The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease
-
1:CAS:528:DyaL38Xlsl2ku7k%3D 7126619
-
O Nilsson JE Mansson G Hakansson, et al. 1982 The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease Biochim Biophys Acta 712 453 463 1:CAS:528: DyaL38Xlsl2ku7k%3D 7126619
-
(1982)
Biochim Biophys Acta
, vol.712
, pp. 453-463
-
-
Nilsson, O.1
Mansson, J.E.2
Hakansson, G.3
-
19
-
-
0036219584
-
Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
-
DOI 10.1023/A:1015137917508
-
R Gornati B Berra G Montorfano, et al. 2002 Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease J Inherit Metab Dis 25 47 55 1:CAS:528:DC%2BD38XjvVKlsb8%3D 10.1023/A:1015137917508 11999980 (Pubitemid 34303226)
-
(2002)
Journal of Inherited Metabolic Disease
, vol.25
, Issue.1
, pp. 47-55
-
-
Gornati, R.1
Berra, B.2
Montorfano, G.3
Martini, C.4
Ciana, G.5
Ferrari, P.6
Romano, M.7
Bembi, B.8
-
20
-
-
0034893603
-
Gaucher's disease - An exemplary monogenic disorder
-
1:STN:280:DC%2BD3Mvks1yqug%3D%3D 10.1093/qjmed/94.8.399 11493715
-
TM Cox 2001 Gaucher's disease - an exemplary monogenic disorder QJM 94 399 402 1:STN:280:DC%2BD3Mvks1yqug%3D%3D 10.1093/qjmed/94.8.399 11493715
-
(2001)
QJM
, vol.94
, pp. 399-402
-
-
Cox, T.M.1
-
21
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
1:CAS:528:DC%2BD2cXotFyhurg%3D 10.1309/BG5VA8JRDQH1M7HN 15362365
-
LA Boven M van Meurs RG Boot, et al. 2004 Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages Am J Clin Pathol 122 359 369 1:CAS:528:DC%2BD2cXotFyhurg%3D 10.1309/ BG5VA8JRDQH1M7HN 15362365
-
(2004)
Am J Clin Pathol
, vol.122
, pp. 359-369
-
-
Boven, L.A.1
Van Meurs, M.2
Boot, R.G.3
-
22
-
-
0014575787
-
The morphogenesis of Gaucher cells investigated by electron microscopy
-
1:STN:280:DyaF1M3ms1ejsQ%3D%3D 5804023
-
N Pennelli F Scaravilli F Zacchello 1969 The morphogenesis of Gaucher cells investigated by electron microscopy Blood 34 331 347 1:STN:280: DyaF1M3ms1ejsQ%3D%3D 5804023
-
(1969)
Blood
, vol.34
, pp. 331-347
-
-
Pennelli, N.1
Scaravilli, F.2
Zacchello, F.3
-
23
-
-
0031308388
-
Pathological features
-
DOI 10.1016/S0950-3536(97)80037-6
-
GM Pastores 1997 Gaucher's disease. Pathological features Baillieres Clin Haematol 10 739 749 1:STN:280:DyaK1c7lvFaqtA%3D%3D 10.1016/S0950-3536(97)80037- 6 9497861 (Pubitemid 28022206)
-
(1997)
Bailliere's Clinical Haematology
, vol.10
, Issue.4
, pp. 739-749
-
-
Pastores, G.M.1
-
24
-
-
0032805835
-
Cytokines in Gaucher's disease
-
1:CAS:528:DyaK1MXlsFWiurk%3D 10400826
-
V Barak M Acker B Nisman, et al. 1999 Cytokines in Gaucher's disease Eur Cytokine Netw 10 205 210 1:CAS:528:DyaK1MXlsFWiurk%3D 10400826
-
(1999)
Eur Cytokine Netw
, vol.10
, pp. 205-210
-
-
Barak, V.1
Acker, M.2
Nisman, B.3
-
25
-
-
0031213523
-
Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease
-
DOI 10.1006/bcmd.1997.0137
-
CE Hollak L Evers JM Aerts, et al. 1997 Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease Blood Cells Mol Dis 23 201 212 1:STN:280:DyaK2szotlelsw%3D%3D 10.1006/bcmd.1997.0137 9236158 (Pubitemid 27469455)
-
(1997)
Blood Cells, Molecules and Diseases
, vol.23
, Issue.2
, pp. 201-212
-
-
Hollak, C.E.M.1
Evers, L.2
Aerts, J.M.F.G.3
Van Oers, M.H.J.4
-
26
-
-
0742306870
-
Effect of enzyme replacement therapy on gammopathies in Gaucher disease
-
DOI 10.1016/j.bcmd.2003.10.007
-
A Brautbar D Elstein G Pines, et al. 2004 Effect of enzyme replacement therapy on gammopathies in Gaucher disease Blood Cells Mol Dis 32 214 217 1:CAS:528:DC%2BD2cXntVGqug%3D%3D 10.1016/j.bcmd.2003.10.007 14757437 (Pubitemid 38147719)
-
(2004)
Blood Cells, Molecules, and Diseases
, vol.32
, Issue.1
, pp. 214-217
-
-
Brautbar, A.1
Elstein, D.2
Pines, G.3
Abrahamov, A.4
Zimran, A.5
-
27
-
-
77950118269
-
Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease
-
1:CAS:528:DC%2BC3cXnt1Khu7c%3D 20336596
-
GM Pastores 2010 Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease Curr Opin Investig Drugs 11 472 478 1:CAS:528:DC%2BC3cXnt1Khu7c%3D 20336596
-
(2010)
Curr Opin Investig Drugs
, vol.11
, pp. 472-478
-
-
Pastores, G.M.1
-
28
-
-
75149112725
-
Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease
-
1:CAS:528:DC%2BC3cXislSrtrs%3D 10.2165/11318540-000000000-00000 20055531
-
GM Pastores 2010 Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease BioDrugs 24 41 47 1:CAS:528:DC%2BC3cXislSrtrs%3D 10.2165/11318540-000000000-00000 20055531
-
(2010)
BioDrugs
, vol.24
, pp. 41-47
-
-
Pastores, G.M.1
-
29
-
-
78751522800
-
Improving the accuracy of MRI spleen and liver volume measurements: A phase III Gaucher disease clinical trial setting as a model
-
in press
-
Bracoud L, Ahmad H, Brill-Almon E, et al. Improving the accuracy of MRI spleen and liver volume measurements: a phase III Gaucher disease clinical trial setting as a model. Blood Cells Mol Dis, in press, 2010
-
(2010)
Blood Cells Mol Dis
-
-
Bracoud, L.1
Ahmad, H.2
Brill-Almon, E.3
-
30
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
1:STN:280:DyaK2M%2FnslaisA%3D%3D 7985893
-
GA Grabowski NW Barton G Pastores, et al. 1995 Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources Ann Intern Med 122 33 39 1:STN:280:DyaK2M%2FnslaisA%3D%3D 7985893
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
-
31
-
-
57749100376
-
Randomized, controlled trial of miglustat in Gaucher's disease type 3
-
10.1002/ana.21491 19067373
-
R Schiffmann EJ Fitzgibbon C Harris, et al. 2008 Randomized, controlled trial of miglustat in Gaucher's disease type 3 Ann Neurol 64 514 522 10.1002/ana.21491 19067373
-
(2008)
Ann Neurol
, vol.64
, pp. 514-522
-
-
Schiffmann, R.1
Fitzgibbon, E.J.2
Harris, C.3
-
32
-
-
77957551053
-
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study
-
1:CAS:528:DC%2BC3cXhsFCiu7fJ 10.1182/blood-2010-06-293902 20713962
-
E Lukina N Watman EA Arreguin, et al. 2010 Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study Blood 116 4095 4098 1:CAS:528:DC%2BC3cXhsFCiu7fJ 10.1182/blood-2010-06-293902 20713962
-
(2010)
Blood
, vol.116
, pp. 4095-4098
-
-
Lukina, E.1
Watman, N.2
Arreguin, E.A.3
-
33
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
DOI 10.1093/hmg/ddi240
-
I Ron M Horowitz 2005 ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity Hum Mol Genet 14 2387 2398 1:CAS:528:DC%2BD2MXpsFams7w%3D 10.1093/hmg/ddi240 16000318 (Pubitemid 41418000)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.16
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
34
-
-
77954933661
-
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders
-
1:CAS:528:DC%2BC3cXht1CjsLrM 10.1007/s11910-010-0102-x 20425034
-
A Velayati WH Yu E Sidransky 2010 The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders Curr Neurol Neurosci Rep 10 190 198 1:CAS:528:DC%2BC3cXht1CjsLrM 10.1007/s11910-010-0102-x 20425034
-
(2010)
Curr Neurol Neurosci Rep
, vol.10
, pp. 190-198
-
-
Velayati, A.1
Yu, W.H.2
Sidransky, E.3
-
35
-
-
34249864552
-
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress
-
DOI 10.1002/jcp.21023
-
M Deganuto MG Pittis A Pines, et al. 2007 Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress J Cell Physiol 212 223 235 1:CAS:528: DC%2BD2sXmtVWkurg%3D 10.1002/jcp.21023 17443679 (Pubitemid 46867605)
-
(2007)
Journal of Cellular Physiology
, vol.212
, Issue.1
, pp. 223-235
-
-
Deganuto, M.1
Pittis, M.G.2
Pines, A.3
Dominissini, S.4
Kelley, M.R.5
Garcia, R.6
Quadrifoglio, F.7
Bembi, B.8
Tell, G.9
-
36
-
-
70350459562
-
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome
-
1:CAS:528:DC%2BD1MXhtlShtbjK 10.1182/blood-2009-02-205708 19587377
-
PM Campeau M Rafei MN Boivin, et al. 2009 Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome Blood 114 3181 3190 1:CAS:528:DC%2BD1MXhtlShtbjK 10.1182/blood-2009- 02-205708 19587377
-
(2009)
Blood
, vol.114
, pp. 3181-3190
-
-
Campeau, P.M.1
Rafei, M.2
Boivin, M.N.3
-
37
-
-
64549159732
-
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
-
1:CAS:528:DC%2BD1MXktV2htbo%3D 10.1093/hmg/ddp061 19193629
-
T Farfel-Becker E Vitner H Dekel, et al. 2009 No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease Hum Mol Genet 18 1482 1488 1:CAS:528:DC%2BD1MXktV2htbo%3D 10.1093/hmg/ddp061 19193629
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1482-1488
-
-
Farfel-Becker, T.1
Vitner, E.2
Dekel, H.3
-
38
-
-
33947376087
-
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-β-glucosidase
-
DOI 10.1016/j.bcp.2006.12.015, PII S0006295206008239
-
R Steet S Chung WS Lee, et al. 2007 Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase Biochem Pharmacol 73 1376 1383 1:CAS:528: DC%2BD2sXjsVGitLc%3D 10.1016/j.bcp.2006.12.015 17217920 (Pubitemid 46452579)
-
(2007)
Biochemical Pharmacology
, vol.73
, Issue.9
, pp. 1376-1383
-
-
Steet, R.1
Chung, S.2
Lee, W.-S.3
Pine, C.W.4
Do, H.5
Kornfeld, S.6
-
39
-
-
77954749600
-
Click chemistry approach to new N-substituted aminocyclitols as potential pharmacological chaperones for Gaucher disease
-
1:CAS:528:DC%2BC3cXnsFyhs70%3D 10.1021/jm100198t 20557054
-
L Diaz J Bujons J Casas, et al. 2010 Click chemistry approach to new N-substituted aminocyclitols as potential pharmacological chaperones for Gaucher disease J Med Chem 53 5248 5255 1:CAS:528:DC%2BC3cXnsFyhs70%3D 10.1021/jm100198t 20557054
-
(2010)
J Med Chem
, vol.53
, pp. 5248-5255
-
-
Diaz, L.1
Bujons, J.2
Casas, J.3
-
40
-
-
11844278539
-
Enhanced calcium release in the acute neuronopathic form of Gaucher disease
-
DOI 10.1016/j.nbd.2004.09.004, PII S0969996104002219
-
D Pelled S Trajkovic-Bodennec E Lloyd-Evans, et al. 2005 Enhanced calcium release in the acute neuronopathic form of Gaucher disease Neurobiol Dis 18 83 88 1:CAS:528:DC%2BD2MXkslOhug%3D%3D 10.1016/j.nbd.2004.09.004 15649698 (Pubitemid 40092898)
-
(2005)
Neurobiology of Disease
, vol.18
, Issue.1
, pp. 83-88
-
-
Pelled, D.1
Trajkovic-Bodennec, S.2
Lloyd-Evans, E.3
Sidransky, E.4
Schiffmann, R.5
Futerman, A.H.6
-
41
-
-
77952501011
-
2+ increases enhance mutant glucocerebrosidase proteostasis
-
1:CAS:528:DC%2BC3cXlslyqtL8%3D 10.1038/nchembio.368 20453863
-
2+ increases enhance mutant glucocerebrosidase proteostasis Nat Chem Biol 6 424 432 1:CAS:528:DC%2BC3cXlslyqtL8%3D 10.1038/nchembio.368 20453863
-
(2010)
Nat Chem Biol
, vol.6
, pp. 424-432
-
-
Ong, D.S.1
Mu, T.W.2
Palmer, A.E.3
-
42
-
-
77955447007
-
Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease
-
10.4161/auto.6.5.12047 (Epub ahead of print)
-
Y Sun GA Grabowski 2010 Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease Autophagy 6 648 649 10.4161/auto.6.5.12047 (Epub ahead of print)
-
(2010)
Autophagy
, vol.6
, pp. 648-649
-
-
Sun, Y.1
Grabowski, G.A.2
-
43
-
-
78650808642
-
Autophagy in Gaucher disease due to saposin C deficiency
-
10.4161/auto.7.1.13884
-
M Tatti M Motta R Salvioli 2010 Autophagy in Gaucher disease due to saposin C deficiency Autophagy 7 94 95 10.4161/auto.7.1.13884
-
(2010)
Autophagy
, vol.7
, pp. 94-95
-
-
Tatti, M.1
Motta, M.2
Salvioli, R.3
-
44
-
-
77649211816
-
Disease pathogenesis explained by basic science: Lysosomal storage diseases as autophagocytic disorders
-
1:CAS:528:DC%2BC3cXhtVWls7w%3D 20040309
-
A Ballabio 2009 Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders Int J Clin Pharmacol Ther 47 Suppl 1 S34 S38 1:CAS:528:DC%2BC3cXhtVWls7w%3D 20040309
-
(2009)
Int J Clin Pharmacol Ther
, vol.47
, Issue.SUPPL. 1
-
-
Ballabio, A.1
|