-
1
-
-
50549198437
-
Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady, R. O.; Kanfer, J. N.; Shapiro, D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease Biochem. Biophys. Res. Commun. 1965, 18, 221-225
-
(1965)
Biochem. Biophys. Res. Commun.
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
2
-
-
0000216808
-
Gaucher disease
-
8 th ed. Scriver, C. R. Beaudet, A. L. Sly, W. S. Valle, D. McGraw-Hill: New York
-
Beutler, E.; Grabowski, G. A. Gaucher disease. In The metabolic and molecular bases of inherited diseases, 8 th ed.; Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D., Eds.; McGraw-Hill: New York, 2001; pp 3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
3
-
-
1342306744
-
New directions in the treatment of Gaucher disease
-
DOI 10.1016/j.tips.2004.01.004
-
Futerman, A. H.; Sussman, J. L.; Horowitz, M.; Silman, I.; Zimran, A. New directions in the treatment of Gaucher disease Trends Pharmacol. Sci. 2004, 25, 147-151 (Pubitemid 38264505)
-
(2004)
Trends in Pharmacological Sciences
, vol.25
, Issue.3
, pp. 147-151
-
-
Futerman, A.H.1
Sussman, J.L.2
Horowitz, M.3
Silman, I.4
Zimran, A.5
-
4
-
-
33745293617
-
Therapeutic strategies to ameliorate lysosomal storage disorders - A focus on Gaucher disease
-
DOI 10.1007/s00018-005-5437-0
-
Sawkar, A. R.; D'Haeze, W.; Kelly, J. W. Therapeutic strategies to ameliorate lysosomal storage disorders - a focus on Gaucher disease Cell. Mol. Life Sci. 2006, 63, 1179-1192 (Pubitemid 43939004)
-
(2006)
Cellular and Molecular Life Sciences
, vol.63
, Issue.10
, pp. 1179-1192
-
-
Sawkar, A.R.1
D'Haeze, W.2
Kelly, J.W.3
-
5
-
-
0031844267
-
Therapy for the sphingolipidoses
-
DOI 10.1001/archneur.55.8.1055
-
Brady, R. O. Therapy for the sphingolipidoses Arch. Neurol. 1998, 55, 1055-1056 (Pubitemid 28367229)
-
(1998)
Archives of Neurology
, vol.55
, Issue.8
, pp. 1055-1056
-
-
Brady, R.O.1
-
6
-
-
0029664406
-
Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells
-
Bijsterbosch, M. K.; Donker, W.; van de Bilt, H.; van Weely, S.; van Berkel, T. J.; Aerts, J. M. Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells Eur. J. Biochem. 1996, 237, 344-349
-
(1996)
Eur. J. Biochem.
, vol.237
, pp. 344-349
-
-
Bijsterbosch, M.K.1
Donker, W.2
Van De Bilt, H.3
Van Weely, S.4
Van Berkel, T.J.5
Aerts, J.M.6
-
7
-
-
0029845416
-
Therapeutic delivery of proteins to macrophages: Implications for treatment of Gaucher's disease
-
DOI 10.1016/S0140-6736(96)04451-0
-
Mistry, P. K.; Wraight, E. P.; Cox, T. M. Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease Lancet 1996, 348, 1555-1559 (Pubitemid 26411655)
-
(1996)
Lancet
, vol.348
, Issue.9041
, pp. 1555-1559
-
-
Mistry, P.K.1
Wraight, E.P.2
Cox, T.M.3
-
8
-
-
34248504877
-
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
-
DOI 10.1016/j.bcmd.2007.02.008, PII S1079979607000319
-
Zimran, A.; Loveday, K.; Fratazzi, C.; Elstein, D. A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease Blood Cells, Mol., Dis. 2007, 39, 115-118 (Pubitemid 46754922)
-
(2007)
Blood Cells, Molecules, and Diseases
, vol.39
, Issue.1
, pp. 115-118
-
-
Zimran, A.1
Loveday, K.2
Fratazzi, C.3
Elstein, D.4
-
9
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency - Macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton, N. W.; Brady, R. O.; Dambrosia, J. M.; Di Bisceglie, A. M.; Doppelt, S. H.; Hill, S. C. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease N. Engl. J. Med. 1991, 324, 1464-1470
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
-
10
-
-
0030772366
-
Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease
-
DOI 10.1002/ana.410420412
-
Schiffmann, R.; Heyes, M. P.; Aerts, J. M.; Dambrosia, J. M.; Patterson, M. C.; DeGraba, T. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease Ann. Neurol. 1997, 2, 613-621 (Pubitemid 27439024)
-
(1997)
Annals of Neurology
, vol.42
, Issue.4
, pp. 613-621
-
-
Schiffmann, R.1
Heyes, M.P.2
Aerts, J.M.3
Dambrosia, J.M.4
Patterson, M.C.5
DeGraba, T.6
Parker, C.C.7
Zirzow, G.C.8
Oliver, K.9
Tedeschi, G.10
Brady, R.O.11
Barton, N.W.12
Nagineni, C.13
Kaneski, C.R.14
Murray, G.J.15
Higgins, J.J.16
Tournay, A.17
Banerjee, T.K.18
Kreps, C.19
Scott, L.J.C.20
McKee, M.-A.21
Crutchfield, K.22
Frei, K.23
more..
-
11
-
-
0037159549
-
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
-
DOI 10.1016/S0002-9343(02)01150-6, PII S0002934302011506
-
Weinreb, N. J.; Charrow, J.; Andersson, H. C.; Kaplan, P.; Kolodny, E. H.; Mistry, P. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry Am. J. Med. 2002, 113, 112-119 (Pubitemid 34804747)
-
(2002)
American Journal of Medicine
, vol.113
, Issue.2
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
Kaplan, P.4
Kolodny, E.H.5
Mistry, P.6
Pastores, G.7
Rosenbloom, B.E.8
Scott, C.R.9
Wappner, R.S.10
Zimran, A.11
-
12
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
DOI 10.1146/annurev.med.57.110104.115650
-
Brady, R. O. Enzyme replacement for lysosomal diseases Annu. Rev. Med. 2006, 57, 283-296 (Pubitemid 43261992)
-
(2006)
Annual Review of Medicine
, vol.57
, pp. 283-296
-
-
Brady, R.O.1
-
13
-
-
0031868229
-
Enzyme therapy for Gaucher disease: The first 5 years
-
DOI 10.1016/S0268-960X(98)90023-6
-
Grabowski, G. A.; Leslie, N.; Wenstrup, R. Enzyme therapy for Gaucher disease: the first 5 years Blood Rev. 1998, 12, 115-133 (Pubitemid 28327418)
-
(1998)
Blood Reviews
, vol.12
, Issue.2
, pp. 115-133
-
-
Grabowski, G.A.1
Leslie, N.2
Wenstrup, R.3
-
14
-
-
27644539470
-
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
-
DOI 10.1002/ajh.20504
-
Weinreb, N. J.; Barranger, J. A.; Charrow, J.; Grabowski, G. A.; Mankin, H. J.; Mistry, P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease Am. J. Hematol. 2005, 80, 223-229 (Pubitemid 41579546)
-
(2005)
American Journal of Hematology
, vol.80
, Issue.3
, pp. 223-229
-
-
Weinreb, N.J.1
Barranger, J.A.2
Charrow, J.3
Grabowski, G.A.4
Mankin, H.J.5
Mistry, P.6
-
15
-
-
33745506072
-
Lysosomal storage diseases: Natural history and ethical and economic aspects
-
DOI 10.1016/j.ymgme.2006.01.010, PII S109671920600028X
-
Beutler, E. Lysosomal storage diseases: natural history and ethical and economic aspects Mol. Genet. Metab. 2006, 88, 208-215 (Pubitemid 43963435)
-
(2006)
Molecular Genetics and Metabolism
, vol.88
, Issue.3
, pp. 208-215
-
-
Beutler, E.1
-
16
-
-
0035020269
-
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
-
DOI 10.1023/A:1010335505357
-
Platt, F. M.; Jeyakumar, M.; Andersson, U.; Priestman, D. A.; Dwek, R. A.; Butters, T. D. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy J. Inherited Metab. Dis. 2001, 24, 275-290 (Pubitemid 32479421)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.2
, pp. 275-290
-
-
Platt, F.M.1
Jeyakumar, M.2
Andersson, U.3
Priestman, D.A.4
Dwek, R.A.5
Butters, T.D.6
Cox, T.M.7
Lachmann, R.H.8
Hollak, C.9
Aerts, J.M.F.G.10
Van Weely, S.11
Hrebicek, M.12
Moyses, C.13
Gow, I.14
Elstein, D.15
Zimran, A.16
-
17
-
-
0038206527
-
Miglustat. Oxford GlycoSciences/Actelion
-
Lachmann, R. H. Miglustat. Oxford GlycoSciences/Actelion Curr. Opin. Invest. Drugs 2003, 4, 472-479
-
(2003)
Curr. Opin. Invest. Drugs
, vol.4
, pp. 472-479
-
-
Lachmann, R.H.1
-
18
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox, T.; Lachmann, R.; Hollak, C.; Aerts, J.; van Weely, S.; Hrebícek, M. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Lancet 2000, 355, 1481-1485 (Pubitemid 30237353)
-
(2000)
Lancet
, vol.355
, Issue.9214
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
Platt, F.7
Butters, T.8
Dwek, R.9
Moyses, C.10
Gow, I.11
Elstein, D.12
Zimran, A.13
-
19
-
-
7244254360
-
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
-
DOI 10.1023/B:BOLI.0000045756.54006.17
-
Elstein, D.; Hollak, C.; Aerts, J. M.; van Weely, S.; Maas, M.; Cox, T. M. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease J. Inherited Metab. Dis. 2004, 27, 757-766 (Pubitemid 39433603)
-
(2004)
Journal of Inherited Metabolic Disease
, vol.27
, Issue.6
, pp. 757-766
-
-
Elstein, D.1
Hollak, C.2
Aerts, J.M.F.G.3
Van Weely, S.4
Maas, M.5
Cox, T.M.6
Lachmann, R.H.7
Hrebicek, M.8
Platt, F.M.9
Butters, T.D.10
Dwek, R.A.11
Zimran, A.12
-
20
-
-
33744489849
-
Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease
-
Giraldo, P.; Latre, P.; Alfonso, P.; Acedo, A.; Alonso, D.; Barez, A. Short-term effect of miglustat in every day clinical use in treatment-naïve or previously treated patients with type 1 Gaucher's disease Haematologica 2006, 91, 703-706 (Pubitemid 43799475)
-
(2006)
Haematologica
, vol.91
, Issue.5
, pp. 703-706
-
-
Giraldo, P.1
Latre, P.2
Alfonso, P.3
Acedo, A.4
Alonso, D.5
Barez, A.6
Corrales, A.7
Franco, R.8
Roldan, V.9
Serrano, S.10
Pocovi, M.11
-
21
-
-
34948880765
-
Oral maintenance clinical trial with miglustat for type I Gaucher disease: Switch from or combination with intravenous enzyme replacement
-
DOI 10.1182/blood-2007-02-075960
-
Elstein, D.; Dweck, A.; Attias, D.; Hadas-Halpern, I.; Zevin, S.; Altarescu, G. Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement Blood 2007, 110, 2296-2301 (Pubitemid 47523147)
-
(2007)
Blood
, vol.110
, Issue.7
, pp. 2296-2301
-
-
Elstein, D.1
Dweck, A.2
Attias, D.3
Hadas-Halpern, I.4
Zevin, S.5
Altarescu, G.6
Aerts, J.F.M.G.7
Van Weely, S.8
Zimran, A.9
-
22
-
-
34848916343
-
Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies
-
DOI 10.1016/j.clinthera.2007.08.006, PII S014929180700241X
-
Pastores, G. M.; Elstein, D.; Hrebícek, M.; Zimran, A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies Clin. Ther. 2007, 29, 1645-1654 (Pubitemid 47494543)
-
(2007)
Clinical Therapeutics
, vol.29
, Issue.8
, pp. 1645-1654
-
-
Pastores, G.M.1
Elstein, D.2
Hrebicek, M.3
Zimran, A.4
-
23
-
-
73049101383
-
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: The ZAGAL project
-
Giraldo, P.; Alfonso, P.; Atutxa, K.; Fernández-Galán, M. A.; Barez, A.; Franco, R. Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project Haematologica 2009, 94, 1771-1775
-
(2009)
Haematologica
, vol.94
, pp. 1771-1775
-
-
Giraldo, P.1
Alfonso, P.2
Atutxa, K.3
Fernández-Galán, M.A.4
Barez, A.5
Franco, R.6
-
24
-
-
0033018496
-
Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblasts by an enzyme inhibitor
-
DOI 10.1038/4801
-
Fan, J. Q.; Ishii, S.; Asano, N.; Suzuki, Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor Nat. Med. 1999, 5, 112-115 (Pubitemid 29051008)
-
(1999)
Nature Medicine
, vol.5
, Issue.1
, pp. 112-115
-
-
Fan, J.-Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
25
-
-
7244253015
-
Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease
-
DOI 10.1111/j.1600-0854.2004.00232.x
-
Ulloa-Aguirre, A.; Janovick, J. A.; Brothers, S. P.; Conn, P. M. Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease Traffic 2004, 5, 821-837 (Pubitemid 39433553)
-
(2004)
Traffic
, vol.5
, Issue.11
, pp. 821-837
-
-
Ulloa-Aguirre, A.1
Janovick, J.A.2
Brothers, S.P.3
Conn, P.M.4
-
26
-
-
33846020543
-
Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs
-
DOI 10.1016/j.bbapap.2006.08.012, PII S157096390600286X
-
Arakawa, T.; Ejima, D.; Kita, Y.; Tsumoto, K. Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs Biochim. Biophys. Acta 2006, 1764, 1677-1687 (Pubitemid 46053854)
-
(2006)
Biochimica et Biophysica Acta - Proteins and Proteomics
, vol.1764
, Issue.11
, pp. 1677-1687
-
-
Arakawa, T.1
Ejima, D.2
Kita, Y.3
Tsumoto, K.4
-
27
-
-
50149112642
-
Protein misfolding in conformational disorders: Rescue of folding defects and chemical chaperoning
-
Leandro, P.; Gomes, C. M. Protein misfolding in conformational disorders: rescue of folding defects and chemical chaperoning Mini-Rev. Med. Chem. 2008, 8, 901-11
-
(2008)
Mini-Rev. Med. Chem.
, vol.8
, pp. 901-11
-
-
Leandro, P.1
Gomes, C.M.2
-
28
-
-
0033521072
-
Setting the standards: Quality control in the secretory pathway
-
Ellgaard, L.; Molinari, M.; Helenius, A. Setting the standards: quality control in the secretory pathway Science 1999, 286, 1882-1888 (Pubitemid 129515888)
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1882-1888
-
-
Ellgaard, L.1
Molinari, M.2
Helenius, A.3
-
29
-
-
0037336295
-
Quality control in the endoplasmic reticulum
-
DOI 10.1038/nrm1052
-
Ellgaard, L.; Helenius, A. Quality control in the endoplasmic reticulum Nat. Rev. Mol. Cell Biol. 2003, 4, 181-191 (Pubitemid 36288040)
-
(2003)
Nature Reviews Molecular Cell Biology
, vol.4
, Issue.3
, pp. 181-191
-
-
Ellgaard, L.1
Helenius, A.2
-
30
-
-
33845240108
-
Clinical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants
-
Sawkar, A. R.; Schmitz, M.; Zimmer, K. P.; Reczek, D.; Edmunds, T.; Balch, W. E. Clinical chaperones and permissive temperatures alter localization of Gaucher disease associated glucocerebrosidase variants ACS Chem. Biol. 2006, 1, 235-251
-
(2006)
ACS Chem. Biol.
, vol.1
, pp. 235-251
-
-
Sawkar, A.R.1
Schmitz, M.2
Zimmer, K.P.3
Reczek, D.4
Edmunds, T.5
Balch, W.E.6
-
31
-
-
0023841862
-
A view of acidic intracellular compartments
-
Anderson, R. G.; Orci, L. A view of acidic intracellular compartments J. Cell Biol. 1988, 106, 539-543 (Pubitemid 18089954)
-
(1988)
Journal of Cell Biology
, vol.106
, Issue.3
, pp. 539-543
-
-
Anderson, R.G.W.1
Orci, L.2
-
32
-
-
0037180511
-
Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease
-
DOI 10.1073/pnas.192582899
-
Sawkar, A. R.; Cheng, W. C.; Beutler, E.; Wong, C. H.; Balch, W. E.; Kelly, J. W. Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease Proc. Natl. Acad. Sci. U.S.A. 2002, 99, 15428-15433 (Pubitemid 35403951)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.24
, pp. 15428-15433
-
-
Sawkar, A.R.1
Cheng, W.-C.2
Beutler, E.3
Wong, C.-H.4
Balch, W.E.5
Kelly, J.W.6
-
33
-
-
24644490499
-
Miglustat (NB-DNJ) works as a chaperone for mutated acid β-glucosidase in cells transfected with several Gaucher disease mutations
-
DOI 10.1016/j.bcmd.2005.05.007, PII S1079979605000689
-
Alfonso, P.; Pampín, S.; Estrada, J.; Rodríguez-Rey, J. C.; Giraldo, P.; Sancho, J. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations Blood Cells, Mol., Dis. 2005, 35, 268-276 (Pubitemid 41267059)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.35
, Issue.2
, pp. 268-276
-
-
Alfonso, P.1
Pampin, S.2
Estrada, J.3
Rodriguez-Rey, J.C.4
Giraldo, P.5
Sancho, J.6
Pocovi, M.7
-
34
-
-
27744459735
-
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles
-
DOI 10.1016/j.chembiol.2005.09.007, PII S1074552105002978
-
Sawkar, A. R.; Adamski-Werner, S. L.; Cheng, W. C.; Wong, C. H.; Beutler, E.; Zimmer, K. P. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles Chem. Biol. 2005, 12, 1235-1244 (Pubitemid 41628259)
-
(2005)
Chemistry and Biology
, vol.12
, Issue.11
, pp. 1235-1244
-
-
Sawkar, A.R.1
Adamski-Werner, S.L.2
Cheng, W.-C.3
Wong, C.-H.4
Beutler, E.5
Zimmer, K.-P.6
Kelly, J.W.7
-
35
-
-
33748801230
-
The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms
-
DOI 10.1073/pnas.0605928103
-
Steet, R. A.; Chung, S.; Wustman, B.; Powe, A.; Do, H.; Kornfeld, S. A. The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms Proc. Natl. Acad. Sci. U.S.A. 2006, 103, 13813-13818 (Pubitemid 44413990)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.37
, pp. 13813-13818
-
-
Steet, R.A.1
Chung, S.2
Wustman, B.3
Powe, A.4
Do, H.5
Kornfeld, S.A.6
-
36
-
-
67349151270
-
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
-
Benjamin, E. R.; Flanagan, J. J.; Schilling, A.; Chang, H. H.; Agarwal, L.; Katz, E. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines J. Inherited Metab. Dis. 2009, 32, 424-440
-
(2009)
J. Inherited Metab. Dis.
, vol.32
, pp. 424-440
-
-
Benjamin, E.R.1
Flanagan, J.J.2
Schilling, A.3
Chang, H.H.4
Agarwal, L.5
Katz, E.6
-
37
-
-
77953127358
-
2,5-Dideoxy-2,5-imino-d-altritol as a new class of pharmacological chaperone for Fabry disease
-
Kato, A.; Yamashita, Y.; Nakagawa, S.; Koike, Y.; Adachi, I.; Hollinshead, J. 2,5-Dideoxy-2,5-imino-d-altritol as a new class of pharmacological chaperone for Fabry disease Bioorg. Med. Chem. 2010, 18, 3790-3794
-
(2010)
Bioorg. Med. Chem.
, vol.18
, pp. 3790-3794
-
-
Kato, A.1
Yamashita, Y.2
Nakagawa, S.3
Koike, Y.4
Adachi, I.5
Hollinshead, J.6
-
38
-
-
33846379973
-
Structure of acid β-glucosidase with pharmacological chaperone provides insight into Gaucher disease
-
DOI 10.1038/nchembio850, PII NCHEMBIO850
-
Lieberman, R. L.; Wustman, B. A.; Huertas, P.; Powe, A. C., Jr.; Pine, C. W.; Khanna, R. Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease Nat. Chem. Biol. 2007, 3, 101-107 (Pubitemid 46134996)
-
(2007)
Nature Chemical Biology
, vol.3
, Issue.2
, pp. 101-107
-
-
Lieberman, R.L.1
Wustman, B.A.2
Huertas, P.3
Powe Jr., A.C.4
Pine, C.W.5
Khanna, R.6
Schlossmacher, M.G.7
Ringe, D.8
Petsko, G.A.9
-
39
-
-
59449103114
-
Isofagomine induced stabilization of glucocerebrosidase
-
Kornhaber, G. J.; Tropak, M. B.; Maegawa, G. H.; Tuske, S. J.; Coales, S. J.; Mahuran, D. J. Isofagomine induced stabilization of glucocerebrosidase ChemBioChem 2008, 9, 2643-2649
-
(2008)
ChemBioChem
, vol.9
, pp. 2643-2649
-
-
Kornhaber, G.J.1
Tropak, M.B.2
Maegawa, G.H.3
Tuske, S.J.4
Coales, S.J.5
Mahuran, D.J.6
-
40
-
-
41349085850
-
Treatment perspectives for the lysosomal storage diseases
-
DOI 10.1517/14728214.13.1.197
-
Grabowski, G. A. Treatment perspectives for the lysosomal storage diseases Expert Opin. Emerging Drugs 2008, 13, 197-211 (Pubitemid 351448710)
-
(2008)
Expert Opinion on Emerging Drugs
, vol.13
, Issue.1
, pp. 197-211
-
-
Grabowski, G.A.1
-
41
-
-
41249093218
-
Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase
-
Shen, J. S.; Edwards, N. J.; Hong, Y. B.; Murray, G. J. Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase Biochem. Biophys. Res. Commun. 2008, 369, 1071-1075
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.369
, pp. 1071-1075
-
-
Shen, J.S.1
Edwards, N.J.2
Hong, Y.B.3
Murray, G.J.4
-
42
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz, M.; Wilder, S.; Horowitz, Z.; Reiner, O.; Gelbart, T.; Beutler, E. The human glucocerebrosidase gene and pseudogene: structure and evolution Genomics 1989, 4, 87-96
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
43
-
-
0025695103
-
Acid β-glucosidase: Enzymology and molecular biology of gaucher disease
-
Grabowski, G. A.; Gatt, S.; Horowitz, M. Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease Crit. Rev. Biochem. Mol. Biol. 1990, 25, 385-414 (Pubitemid 120012280)
-
(1990)
Critical Reviews in Biochemistry and Molecular Biology
, vol.25
, Issue.6
, pp. 385-414
-
-
Grabowski, G.A.1
Gatt, S.2
Horowitz, M.3
-
44
-
-
0042354624
-
X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease
-
DOI 10.1038/sj.embor.embor873
-
Dvir, H.; Harel, M.; McCarthy, A. A.; Toker, L.; Silman, I.; Futerman, A. H. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease EMBO Rep. 2003, 4, 704-709 (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
-
45
-
-
35348989145
-
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid β-glucosidase: Insights into the mechanism of chemical chaperone action in Gaucher disease
-
DOI 10.1074/jbc.M705005200
-
Brumshtein, B.; Greenblatt, H. M.; Butters, T. D.; Shaaltiel, Y.; Aviezer, D.; Silman, I Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease J. Biol. Chem. 2007, 282, 29052-29058 (Pubitemid 47606022)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.39
, pp. 29052-29058
-
-
Brumshtein, B.1
Greenblatt, H.M.2
Butters, T.D.3
Shaaltiel, Y.4
Aviezer, D.5
Silman, I.6
Futerman, A.H.7
Sussman, J.L.8
-
46
-
-
70849126444
-
Characterization of gene-activated human acid-beta-glucosidase: Crystal structure, glycan composition, and internalization into macrophages
-
Brumshtein, B.; Salinas, P.; Peterson, B.; Chan, V.; Silman, I.; Sussman, J. L. Characterization of gene-activated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages Glycobiology 2010, 20, 24-32
-
(2010)
Glycobiology
, vol.20
, pp. 24-32
-
-
Brumshtein, B.1
Salinas, P.2
Peterson, B.3
Chan, V.4
Silman, I.5
Sussman, J.L.6
-
47
-
-
21244456941
-
X-ray structure of human acid-β-glucosidase covalently bound to conduritol-B-epoxide: Implications for Gaucher disease
-
DOI 10.1074/jbc.M502799200
-
Premkumar, L.; Sawkar, A. R.; Boldin-Adamsky, S.; Toker, L.; Silman, I.; Kelly, J. W. X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease J. Biol. Chem. 2005, 280, 23815-23819 (Pubitemid 40884867)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.25
, pp. 23815-23819
-
-
Premkumar, L.1
Sawkar, A.R.2
Boldin-Adamsky, S.3
Toker, L.4
Silman, I.5
Kelly, J.W.6
Futerman, A.H.7
Sussman, J.L.8
-
48
-
-
0030030138
-
Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues
-
Xu, Y. H.; Ponce, E.; Sun, Y.; Leonova, T.; Bove, K.; Witte, D. Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues Pediatr. Res. 1996, 39, 313-322 (Pubitemid 26039557)
-
(1996)
Pediatric Research
, vol.39
, Issue.2
, pp. 313-322
-
-
Xu, Y.-H.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
Witte, D.6
Grabowski, G.A.7
-
49
-
-
33751206186
-
Delivery of lysosomal enzymes for therapeutic use: Glucocerebrosidase as an example
-
DOI 10.1517/17425247.3.6.771
-
Grabowski, G. A. Delivery of lysosomal enzymes for therapeutic use: glucocerebrosidase as an example Expert Opin. Drug Delivery 2006, 3, 771-782 (Pubitemid 44781849)
-
(2006)
Expert Opinion on Drug Delivery
, vol.3
, Issue.6
, pp. 771-782
-
-
Grabowski, G.A.1
-
50
-
-
66649137718
-
Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability
-
Lieberman, R. L.; D́aquino, J. A.; Ringe, D.; Petsko, G. A. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability Biochemistry 2009, 48, 4816-4827
-
(2009)
Biochemistry
, vol.48
, pp. 4816-4827
-
-
Lieberman, R.L.1
D́aquino, J.A.2
Ringe, D.3
Petsko, G.A.4
-
51
-
-
16344382388
-
Thermodynamic stability of carbonic anhydrase: Measurements of binding affinity and stoichiometry using thermofluor
-
DOI 10.1021/bi048135v
-
Matulis, D.; Kranz, J. K.; Salemme, F. R.; Todd, M. J. Thermodynamic stability of carbonic anhydrase: measurements of binding affinity and stoichiometry using ThermoFluor Biochemistry 2005, 44, 5258-5266 (Pubitemid 40471238)
-
(2005)
Biochemistry
, vol.44
, Issue.13
, pp. 5258-5266
-
-
Matulis, D.1
Kranz, J.K.2
Salemme, F.R.3
Todd, M.J.4
-
52
-
-
0022392671
-
Characterization of the activation of rat liver β-glucosidase by sialosylgangliotetraosylceramide
-
Basu, A.; Glew, R. H. Characterization of the activation of rat liver beta-glucosidase sialosylgangliotetraosylceramide J. Biol. Chem. 1985, 260, 13067-13073 (Pubitemid 16209777)
-
(1985)
Journal of Biological Chemistry
, vol.260
, Issue.24
, pp. 13067-13073
-
-
Basu, A.1
Glew, R.H.2
-
53
-
-
0022485729
-
In situ radiation-inactivation size of fibroblast membrane-bound acid β-glucosidase in Gaucher type 1, type 2 and type 3 disease
-
DOI 10.1016/0167-4838(86)90010-5
-
Choy, F. Y; Woo, M.; Potier, M. In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease Biochim. Biophys. Acta 1986, 870, 76-81 (Pubitemid 16073488)
-
(1986)
Biochimica et Biophysica Acta - Protein Structure and Molecular Enzymology
, vol.870
, Issue.1
, pp. 76-81
-
-
Choy, F.Y.M.1
Woo, M.2
Potier, M.3
-
54
-
-
0038412819
-
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
-
Hodanová, K.; Melková, Z.; Horowitz, M.; Hrebízek, M. Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system Eur. J. Hum. Genet. 2003, 11, 369-374
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 369-374
-
-
Hodanová, K.1
Melková, Z.2
Horowitz, M.3
Hrebízek, M.4
-
55
-
-
0020480481
-
Anilinonaphthalene sulfonate as a probe of membrane composition and function
-
Slavik, J. Anilinonaphthalene sulfonate as a probe of membrane composition and function Biochim. Biophys. Acta 1982, 694, 1-25
-
(1982)
Biochim. Biophys. Acta
, vol.694
, pp. 1-25
-
-
Slavik, J.1
-
56
-
-
0034660451
-
No cofactor effect on equilibrium unfolding of Desulfovibrio desulfuricans flavodoxin
-
DOI 10.1016/S0167-4838(00)00032-7, PII S0167483800000327
-
Apiyo, D.; Guidry, J.; Wittung-Stafshede, P. No cofactor effect on equilibrium unfolding of Desulfovibrio desulfuricans flavodoxin Biochim. Biophys. Acta 2000, 1479, 214-224 (Pubitemid 30345639)
-
(2000)
Biochimica et Biophysica Acta - Protein Structure and Molecular Enzymology
, vol.1479
, Issue.1-2
, pp. 214-224
-
-
Apiyo, D.1
Guidry, J.2
Wittung-Stafshede, P.3
-
57
-
-
0037005916
-
2+-binding protein. Tight cation binding is not accompanied by global changes in protein structure and stability
-
DOI 10.1016/S0925-4439(01)00079-5, PII S0925443901000795
-
Permyakov, S. E.; Oberg, K. A.; Cherskaya, A. M.; Shavlovsky, M. M.; Permyakov, E. A.; Uversky, V. N. Human alpha-fetoprotein as a Zn(2+)-binding protein. Tight cation binding is not accompanied by global changes in protein structure and stability Biochim. Biophys. Acta 2002, 1586, 1-10 (Pubitemid 34066611)
-
(2002)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1586
, Issue.1
, pp. 1-10
-
-
Permyakov, S.E.1
Oberg, K.A.2
Cherskaya, A.M.3
Shavlovsky, M.M.4
Permyakov, E.A.5
Uversky, V.N.6
-
58
-
-
12244291912
-
Recoverin is a zinc-binding protein
-
DOI 10.1021/pr025553i
-
Permyakov, S. E.; Cherskaya, A. M.; Wasserman, L. A.; Khokhlova, T. I.; Senin, I. I.; Zargarov, A. A. Recoverin is a zinc-binding protein J. Proteome Res. 2003, 2, 51-57 (Pubitemid 36207190)
-
(2003)
Journal of Proteome Research
, vol.2
, Issue.1
, pp. 51-57
-
-
Permyakov, S.E.1
Cherskaya, A.M.2
Wasserman, L.A.3
Khokhlova, T.I.4
Senin, I.I.5
Zargarov, A.A.6
Zinchenko, D.V.7
Zernii, E.Yu.8
Lipkin, V.M.9
Philippov, P.P.10
Uversky, V.N.11
Permyakov, E.A.12
-
59
-
-
56049092342
-
A quantitative model of thermal stabilization and destabilization of proteins by ligands
-
Cimmperman, P.; Baranauskiene, L.; Jachimoviciute, S.; Jachno, J.; Torresan, J.; Michailoviene, V. A quantitative model of thermal stabilization and destabilization of proteins by ligands Biophys. J. 2008, 95, 3222-3231
-
(2008)
Biophys. J.
, vol.95
, pp. 3222-3231
-
-
Cimmperman, P.1
Baranauskiene, L.2
Jachimoviciute, S.3
Jachno, J.4
Torresan, J.5
Michailoviene, V.6
-
60
-
-
78649898944
-
Conformational stability of hepatitis C virus NS3 protease
-
Abian, O.; Vega, S.; Neira, J. L.; Velazquez-Campoy, A. Conformational stability of hepatitis C virus NS3 protease Biophys. J. 2010, 99, 3811-3820
-
(2010)
Biophys. J.
, vol.99
, pp. 3811-3820
-
-
Abian, O.1
Vega, S.2
Neira, J.L.3
Velazquez-Campoy, A.4
-
61
-
-
79955404357
-
Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse
-
Sun, Y.; Ran, H.; Liou, B.; Quinn, B.; Zamzow, M.; Zhang, W. Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse PLoS One 2011, 6, e19037
-
(2011)
PLoS One
, vol.6
, pp. 19037
-
-
Sun, Y.1
Ran, H.2
Liou, B.3
Quinn, B.4
Zamzow, M.5
Zhang, W.6
-
62
-
-
0344012180
-
Iminosugar Glycosidase Inhibitors: Structural and Thermodynamic Dissection of the Binding of Isofagomine and 1-Deoxynojirimycin to β-Glucosidases
-
DOI 10.1021/ja036833h
-
Zechel, D. L.; Boraston, A. B.; Gloster, T.; Boraston, C. M.; MacDonald, J M.; Tilbrook, M. G. Iminosugar glycosidase inhibitors: Structural and thermodynamic dissection of the binding of isofagomine and 1-deoxynojirimycin to beta-glucosidases J. Am. Chem. Soc. 2003, 125, 14313-14323 (Pubitemid 37452370)
-
(2003)
Journal of the American Chemical Society
, vol.125
, Issue.47
, pp. 14313-14323
-
-
Zechel, D.L.1
Boraston, A.B.2
Gloster, T.3
Boraston, C.M.4
Macdonald, J.M.5
Tilbrook, D.M.G.6
Stick, R.V.7
Davies, G.J.8
-
63
-
-
67349206148
-
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
-
Porto, C; Cardone, M.; Fontana, F.; Rossi, B.; Tuzzi, M. R.; Tarallo, A. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts Mol. Ther. 2009, 17, 964-971
-
(2009)
Mol. Ther.
, vol.17
, pp. 964-971
-
-
Porto, C.1
Cardone, M.2
Fontana, F.3
Rossi, B.4
Tuzzi, M.R.5
Tarallo, A.6
-
64
-
-
23944477827
-
Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease
-
DOI 10.1016/j.biocel.2005.05.008, PII S1357272505001597
-
Schmitz, M.; Alfalah, M.; Aerts, J. M.; Naim, H. Y.; Zimmer, K. P. Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease Int. J. Biochem. Cell Biol. 2005, 37, 2310-2320 (Pubitemid 41207403)
-
(2005)
International Journal of Biochemistry and Cell Biology
, vol.37
, Issue.11
, pp. 2310-2320
-
-
Schmitz, M.1
Alfalah, M.2
Aerts, J.M.F.G.3
Naim, H.Y.4
Zimmer, K.-P.5
-
65
-
-
34047270107
-
A role for protein misfolding in immunogenicity of biopharmaceuticals
-
DOI 10.1074/jbc.M605984200
-
Maas, C.; Hermeling, S.; Bouma, B.; Jiskoot, W.; Gebbink, M. F. A role for protein misfolding in immunogenicity of biopharmaceuticals J. Biol. Chem. 2007, 282, 2229-2236 (Pubitemid 47076754)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.4
, pp. 2229-2236
-
-
Maas, C.1
Hermeling, S.2
Bouma, B.3
Jiskoot, W.4
Gebbink, M.F.B.G.5
|