-
3
-
-
77449098166
-
Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics
-
Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 2009;1:268-79
-
(2009)
EMBO Mol Med
, vol.1
, pp. 268-79
-
-
Parenti, G.1
-
4
-
-
4544345160
-
Diagnosis of lysosomal storage disorders: Current techniques and future directions
-
DOI 10.1586/14737159.4.5.677
-
Meikle PJ, Fietz MJ, Hopwood JJ. Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev Mol Diagn 2004;4:677-91 (Pubitemid 39220841)
-
(2004)
Expert Review of Molecular Diagnostics
, vol.4
, Issue.5
, pp. 677-691
-
-
Meikle, P.J.1
Fietz, M.J.2
Hopwood, J.J.3
-
5
-
-
70449100846
-
Glycosphingolipids-Nature, function, and pharmacological modulation
-
Wennekes T, van den Berg RJBHN, Boot RG, et al. Glycosphingolipids- Nature, function, and pharmacological modulation. Angew Chem Int Ed 2009;48:8848-69
-
(2009)
Angew Chem Int Ed
, vol.48
, pp. 8848-69
-
-
Wennekes, T.1
Van Den Berg, R.J.B.H.N.2
Boot, R.G.3
-
6
-
-
77049229661
-
Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue
-
De Duve C, Pressman BC, Gianetto R, et al. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem J 1955;60:604-17
-
(1955)
Biochem J
, vol.60
, pp. 604-17
-
-
De Duve, C.1
Pressman, B.C.2
Gianetto, R.3
-
7
-
-
0042027843
-
Enzyme therapy for the lysosomal storage disorders: Principles, patents, practice and prospects
-
DOI 10.1517/13543776.13.8.1157
-
Pastores GM. Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects. Expert Opin Ther Pat 2003;13:1157-72 (Pubitemid 36986938)
-
(2003)
Expert Opinion on Therapeutic Patents
, vol.13
, Issue.8
, pp. 1157-1172
-
-
Pastores, G.M.1
-
8
-
-
77958483334
-
Pharmacological small molecules for the treatment of lysosomal storage disorders
-
Smid BE, Aerts JMFG, Boot RG, et al. Pharmacological small molecules for the treatment of lysosomal storage disorders. Expert Opin Invest Drug 2010;19:1367-79
-
(2010)
Expert Opin Invest Drug
, vol.19
, pp. 1367-79
-
-
Smid, B.E.1
Jmfg, A.2
Boot, R.G.3
-
10
-
-
0346727128
-
Therapeutic approaches to protein-misfolding diseases
-
DOI 10.1038/nature02265
-
Coehn FE, Kelly JW. Therapeutic approaches to protein misfolding diseases. Nature 2003;426:905-9 (Pubitemid 38056884)
-
(2003)
Nature
, vol.426
, Issue.6968
, pp. 905-909
-
-
Cohen, F.E.1
Kelly, J.W.2
-
11
-
-
39549119956
-
Gaucher disease: Phenotypic and genetic variation Chapter 146.1
-
Scriver CR Beaudet AL Sly WS Valle D editors McGraw-Hill, NY
-
Grabowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher disease: phenotypic and genetic variation, Chapter 146.1. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors, The metabolic and molecular bases of inherited disease. McGraw-Hill, NY;
-
The Metabolic and Molecular Bases of Inherited Disease
-
-
Grabowski, G.A.1
Kolodny, E.H.2
Weinreb, N.J.3
-
12
-
-
79956194576
-
-
[Last accessed 11th February 2011]
-
Available from: http://genetics.accessmedicine.com [Last accessed 11th February 2011]
-
-
-
-
13
-
-
0026637316
-
Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors
-
Kornfeld S. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Ann Rev Biochem 1992;61:307-30
-
(1992)
Ann Rev Biochem
, vol.61
, pp. 307-30
-
-
Kornfeld, S.1
-
14
-
-
0036362937
-
Stem cell bone marrow transplantation in patients with metabolic storage diseases
-
Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr 2002;49:359-78
-
(2002)
Adv Pediatr
, vol.49
, pp. 359-78
-
-
Krivit, W.1
-
15
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
discussion 11-2
-
MacDermot KD, Holmes A, Miners AH. Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24:s13-14; discussion 11-2
-
(2001)
J Inherit Metab Dis
, vol.24
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
16
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004;41:s4-s14
-
(2004)
Semin Hematol
, vol.41
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
-
18
-
-
0000216808
-
Glucosylceramide lipidosis-Gaucher disease
-
Scriver CR Beaudet AL Sly WS Valle D editors 8th edition. McGraw-Hill, NY
-
Beutler E, Grabowski GA. Glucosylceramide lipidosis-Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors, The metabolic and molecular bases of inherited diseases. 8th edition. McGraw-Hill, NY; p. 3635-68.
-
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 3635-368
-
-
Beutler, E.1
Grabowski, G.A.2
-
20
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
DOI 10.1016/j.ymgme.2004.08.015, PII S1096719204002240, ASHG 2004 Meeting Toronto
-
Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab 2004;83:6-15 (Pubitemid 39311276)
-
(2004)
Molecular Genetics and Metabolism
, vol.83
, Issue.1-2
, pp. 6-15
-
-
Sidransky, E.1
-
21
-
-
0018895371
-
Leukocyte β-glucosidase in homozygotes and heterozygotes for Gaucher disease
-
Raghavan SS, Topol J, Kolodny EH. Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. Am J Hum Genet 1980;32:158-73 (Pubitemid 10105547)
-
(1980)
American Journal of Human Genetics
, vol.32
, Issue.2
, pp. 158-173
-
-
Raghavan, S.S.1
Topol, J.2
Kolodny, E.H.3
-
22
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher?s disease
-
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher?s disease. Lancet 2008;372:1263-71
-
(2008)
Lancet
, vol.372
, pp. 1263-71
-
-
Grabowski, G.A.1
-
23
-
-
27744519517
-
Hematologically important mutations: Gaucher disease
-
DOI 10.1016/j.bcmd.2005.07.005, PII S1079979605001130
-
Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005;35:355-64 (Pubitemid 41627801)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.35
, Issue.3
, pp. 355-364
-
-
Beutler, E.1
Gelbart, T.2
Scott, C.R.3
-
24
-
-
84920501687
-
Gaucher disease: Molecular biology and genotype-phenotype correlations
-
Futerman AH Zimran A editors Taylor & Francis, Boca Raton
-
Hruska KS, LaMarca, ME, Sidransky E. Gaucher disease: molecular biology and genotype-phenotype correlations. In: Futerman AH, Zimran A, editors, Gaucher disease. Taylor & Francis, Boca Raton; 2006. p. 13-48
-
(2006)
Gaucher Disease
, pp. 13-48
-
-
Hruska, K.S.1
Lamarca, M.E.2
Sidransky, E.3
-
25
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
DOI 10.1002/humu.20676
-
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation polymorphism spectrum in the glucorebrosidase gene (GBA). Hum Mutat 2008;29:567-83 (Pubitemid 351614580)
-
(2008)
Human Mutation
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
26
-
-
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 AA, et al. X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep 2003;4:704-9 (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
-
27
-
-
34548770576
-
Carrier screening for gaucher disease: Lessons for low-penetrance, treatable diseases
-
DOI 10.1001/jama.298.11.1281
-
Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA 2007;298:1281-90 (Pubitemid 47443342)
-
(2007)
Journal of the American Medical Association
, vol.298
, Issue.11
, pp. 1281-1290
-
-
Zuckerman, S.1
Lahad, A.2
Shmueli, A.3
Zimran, A.4
Peleg, L.5
Orr-Urtreger, A.6
Levy-Lahad, E.7
Sagi, M.8
-
29
-
-
77954693904
-
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience
-
Zimran A, Altarescu G, Phillips M, et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood 2010;115:4651-6
-
(2010)
Blood
, vol.115
, pp. 4651-6
-
-
Zimran, A.1
Altarescu, G.2
Phillips, M.3
-
30
-
-
79956223431
-
-
[Last accessed 11th Februrary 2011]
-
Available from: www.news-medical.net/ news/20100712/FDA-accepts- Protalixstaliglucerase- alfa-NDA-assigns-PDUFAaction- date.aspx [Last accessed 11th Februrary 2011]
-
-
-
-
32
-
-
79956209820
-
-
[Last accessed 11th February 2011]
-
Shire pipeline. Available from: www. shire.com/shireplc/en/rd/pipeline [Last accessed 11th February 2011].
-
Shire Pipeline
-
-
-
34
-
-
0026046041
-
Gangliosides inhibit glucosylceramide synthase: A possible role in ganglioside therapy
-
Shukla GS, Shukla A, Radin NS. Gangliosides inhibit glucosylceramide synthase: a possible role in ganglioside therapy. J Neurochem 1991;56:2125-32
-
(1991)
J Neurochem
, vol.56
, pp. 2125-32
-
-
Shukla, G.S.1
Shukla, A.2
Radin, N.S.3
-
35
-
-
0035020269
-
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
-
DOI 10.1023/A:1010335505357
-
Platt FM, Jeyakumar M, Andersson U, et al. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis 2001;24:275-90 (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
-
36
-
-
0029939988
-
Treatment of Gaucher disease with an enzyme inhibitor
-
DOI 10.1007/BF00731489
-
Radin NS. Treatment of Gaucher disease with an enzyme inhibitor. Glycoconjugate J 1996;13:153-7 (Pubitemid 26132722)
-
(1996)
Glycoconjugate Journal
, vol.13
, Issue.2
, pp. 153-157
-
-
Radin, N.S.1
-
37
-
-
57749100376
-
Randomized, controlled trial of miglustat in Gaucher?s disease type 3
-
Schiffmann R, Fitzgibbon EJ, Harris C, et al. Randomized, controlled trial of miglustat in Gaucher?s disease type 3. Ann Neurol 2008;64:514-22
-
(2008)
Ann Neurol
, vol.64
, pp. 514-22
-
-
Schiffmann, R.1
Fitzgibbon, E.J.2
Harris, C.3
-
38
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachman R, Hollak C, et al. Novel oral treatment of Gaucher?s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5 (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
-
39
-
-
79956225016
-
Substrate reduction therapy
-
Barranger JA Cabrera-Salazar MA editors Springer, NY
-
Platt FM, Butters TD, Barranger JA. Substrate reduction therapy. In: Barranger JA, Cabrera-Salazar MA, editors, Lysosomal storage disorders. Springer, NY; 2007. p. 153-68
-
(2007)
Lysosomal Storage Disorders
, pp. 153-68
-
-
Platt, F.M.1
Butters, T.D.2
Barranger, J.A.3
-
41
-
-
33751168503
-
Gene therapy
-
Platt FM Walkley SU editors Oxford University Press, Oxford;
-
Sands MS. Gene therapy. In: Platt FM, Walkley SU, editors, Lysosomal disorders of the brain. Oxford University Press, Oxford; 2004. p. 409-30
-
(2004)
Lysosomal Disorders of the Brain
, pp. 409-30
-
-
Sands, M.S.1
-
42
-
-
1842583606
-
Taking stock and planning for the next decade: Realistic prospects for stem cell therapies for the nervous system
-
DOI 10.1002/jnr.20033
-
Snyder EY, Daley GQ, Goodell M. Taking stock and planning for the next decade: realistic prospects for stem cell therapies for the nervous system. J Neurosci Res 2004;76:157-68 (Pubitemid 38451203)
-
(2004)
Journal of Neuroscience Research
, vol.76
, Issue.2
, pp. 157-168
-
-
Snyder, E.Y.1
Daley, G.Q.2
Goodell, M.3
-
43
-
-
79956212917
-
Neural stem cell therapy in lysosomal storage disorders
-
Barrange JA Cabrera-Salazar MA editors Springer, NY
-
Lee JP, Clark D, Jeyakumar M, et al. Neural stem cell therapy in lysosomal storage disorders. In: Barrange JA, Cabrera-Salazar MA, editors, Lysosomal storage disorders. Springer, NY; 2007. p. 197-216
-
(2007)
Lysosomal Storage Disorders
, pp. 197-216
-
-
Lee, J.P.1
Clark, D.2
Jeyakumar, M.3
-
44
-
-
0028921786
-
Ten years? experience of bone marrow transplantation for Gaucher disease
-
Ringden O, Groth CG, Erikson A, et al. Ten years? experience of bone marrow transplantation for Gaucher disease. Transplantation 1995;59:864-70
-
(1995)
Transplantation
, vol.59
, pp. 864-70
-
-
Ringden, O.1
Groth, C.G.2
Erikson, A.3
-
45
-
-
26744445638
-
FDA halts 27 gene therapy trials after illness: Leukemia-like cases in 2 children in France prompt the action
-
Pollack A. FDA halts 27 gene therapy trials after illness: leukemia-like cases in 2 children in France prompt the action. NY Times (print) 2003:A1, 17
-
(2003)
NY Times (Print)
, vol.1 A
, pp. 17
-
-
Pollack, A.1
-
46
-
-
0037449534
-
Gene therapy: Second child in French trial is found to have leukemia
-
DOI 10.1126/science.299.5605.320
-
Marshall E. Gene therapy. Second child in French trial is found to have leukemia. Science 2003;299:320 (Pubitemid 36120006)
-
(2003)
Science
, vol.299
, Issue.5605
, pp. 320
-
-
Marshall, E.1
-
47
-
-
0036853356
-
Leukemia case triggers tighter gene-therapy controls
-
DOI 10.1038/nm1102-1189
-
Bonetta L. Leukemia case triggers tighter gene-therapy controls. Nat Med 2002;8:1189 (Pubitemid 35373536)
-
(2002)
Nature Medicine
, vol.8
, Issue.11
, pp. 1189
-
-
Bonetta, L.1
-
48
-
-
0033018496
-
Accelerated transport and maturation of lysosomal α-galactosidase A in fabry lymphoblasts by an enzyme inhibitor
-
DOI 10.1038/4801
-
Fan JQ, 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;5:112-15 (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
-
49
-
-
37349013379
-
A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity
-
Fan JQ. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 2007;389:1-11
-
(2007)
Biol Chem
, vol.389
, pp. 1-11
-
-
Fan, J.Q.1
-
50
-
-
37849043893
-
Chemical chaperone therapy: Clinical effect in murine GM1-gangliosidosis
-
Suzuki Y, Ichinomiya S, Kurosawa M, et al. Chemical chaperone therapy: clinical effect in murine GM1-gangliosidosis. Ann Neurol 2007;62:671-5
-
(2007)
Ann Neurol
, vol.62
, pp. 671-5
-
-
Suzuki, Y.1
Ichinomiya, S.2
Kurosawa, M.3
-
51
-
-
34748866532
-
Active-site-specific chaperone therapy for Fabry disease: Yin and Yang of enzyme inhibitors
-
DOI 10.1111/j.1742-4658.2007.06041.x
-
Fan JQ, Ishii S. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J 2007;274:4962-71 (Pubitemid 47481192)
-
(2007)
FEBS Journal
, vol.274
, Issue.19
, pp. 4962-4971
-
-
Fan, J.-Q.1
Ishii, S.2
-
52
-
-
67349206148
-
The Pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
-
Porto C, Cardone M, Fontana F, et al. The Pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 2009;17:964-71
-
(2009)
Mol Ther
, vol.17
, pp. 964-71
-
-
Porto, C.1
Cardone, M.2
Al Et, F.F.3
-
53
-
-
34748914170
-
Pharmacologic chaperoning as a strategy to treat Gaucher disease
-
Yu Z, Sawkar AR, Kelly JW. Pharmacologic chaperoning as a strategy to treat Gaucher disease. FEBS J 2007;274:4944-5017
-
(2007)
FEBS J
, vol.274
, pp. 4944-5017
-
-
Yu, Z.1
Sawkar, A.R.2
Kelly, J.W.3
-
54
-
-
33947314170
-
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat
-
DOI 10.1080/00498250601094543, PII 773288053
-
Treiber A, Morand O, Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica 2007;37:298-314 (Pubitemid 46439676)
-
(2007)
Xenobiotica
, vol.37
, Issue.3
, pp. 298-314
-
-
Treiber, A.1
Morand, O.2
Clozel, M.3
-
55
-
-
67349151270
-
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines
-
Benjamin ER, Flanagan JJ, Schilling A, et al. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 2009;32:424-40
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 424-40
-
-
Benjamin, E.R.1
Flanagan, J.J.2
Schilling, A.3
-
57
-
-
77249176209
-
Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis
-
Becq F. Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis. Drugs 2010;70:241-59
-
(2010)
Drugs
, vol.70
, pp. 241-59
-
-
Becq, F.1
-
58
-
-
59349084725
-
Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease
-
Sanchez-Olle G, Duque J, Egido-Gabas M, et al. Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cell Mol Dis 2009;42:159-66
-
(2009)
Blood Cell Mol Dis
, vol.42
, pp. 159-66
-
-
Sanchez-Olle, G.1
Duque, J.2
Egido-Gabas, M.3
-
59
-
-
0043235841
-
A contradictory treatment for lysosomal storage disorders: Inhibitors enhance mutant enzyme activity
-
Fan JQ. A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 2003;24:355-60
-
(2003)
Trends Pharmacol Sci
, vol.24
, pp. 355-60
-
-
Fan, J.Q.1
-
62
-
-
34548134849
-
Gaucher disease
-
DOI 10.1016/j.cbpa.2007.05.035, PII S1367593107000798
-
Butters TD. Gaucher disease. Curr Opin Chem Biol 2007;11:412-18 (Pubitemid 47302848)
-
(2007)
Current Opinion in Chemical Biology
, vol.11
, Issue.4
, pp. 412-418
-
-
Butters, T.D.1
-
63
-
-
27744459735
-
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles
-
DOI 10.1016/j.chembiol.2005.09.007, PII S1074552105002978
-
Sawkar AR, Adamski-Werner SL, Cheng WC, et al. Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol 2005;12:1235-44 (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
-
64
-
-
0037180511
-
Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease
-
DOI 10.1073/pnas.192582899
-
Sawkar AR, Cheng WC, Beutler E, et al. Chemical chaperones increase the cellular activity of N370S beta-glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 2002;99:15428-33 (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
-
66
-
-
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, Pampin S, Estrada J, et al. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations. Blood Cell Mol Dis 2005;35:268-76 (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
-
67
-
-
33846265304
-
Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for gaucher disease intervention
-
DOI 10.1021/jm060677i
-
Yu ZQ, Sawkar AR, Whalen LJ, et al. Isofagomine- and 2,5-anhydro-2,5- imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention. J Med Chem 2007;50:94-100 (Pubitemid 46105502)
-
(2007)
Journal of Medicinal Chemistry
, vol.50
, Issue.1
, pp. 94-100
-
-
Yu, Z.1
Sawkar, A.R.2
Whalen, L.J.3
Wong, C.-H.4
Kelly, J.W.5
-
71
-
-
33747405125
-
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients
-
DOI 10.1111/j.1742-4658.2006.05410.x
-
Chang HH, Asano N, Ishii S, et al. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. FEBS J 2006;273:4082-92 (Pubitemid 44253660)
-
(2006)
FEBS Journal
, vol.273
, Issue.17
, pp. 4082-4092
-
-
Chang, H.-H.1
Asano, N.2
Ishii, S.3
Ichikawa, Y.4
Fan, J.-Q.5
-
72
-
-
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 RA, Chung S, Wustman B, et al. The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. Proc Natl Acad Sci USA 2006;103:13813-18 (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
-
73
-
-
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
-
Steet R, Chung S, Lee W-S, et al. Selective actions of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase. Biochem Pharmacol 2007;73:1376-83 (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
-
78
-
-
77949643182
-
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
-
Khanna R, Benjamin ER, Pellegrino L, et al. The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase. FEBS J 2010;277:1618-38
-
(2010)
FEBS J
, vol.277
, pp. 1618-38
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
-
86
-
-
79956214546
-
-
[Last accessed 11th February 2011]
-
Amicus Therapeutics. Available from: www.amicustherapeutics.com/ clinicaltrials [Last accessed 11th February 2011]
-
-
-
-
91
-
-
33750091952
-
α-1-C-Octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease
-
DOI 10.1016/j.bmc.2006.08.003, PII S0968089606006493
-
Yu L, Ikeda K, Kato A, et al. alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease. Bioorg Med Chem 2006;14:7736-44 (Pubitemid 44584721)
-
(2006)
Bioorganic and Medicinal Chemistry
, vol.14
, Issue.23
, pp. 7736-7744
-
-
Yu, L.1
Ikeda, K.2
Kato, A.3
Adachi, I.4
Godin, G.5
Compain, P.6
Martin, O.7
Asano, N.8
-
92
-
-
33748556543
-
Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher's disease
-
DOI 10.1002/cbic.200600217
-
Compain P, Martin OR, Boucheron C, et al. Design and synthesis of highly potent and selective pharmacological chaperones for the treatment of Gaucher?s disease. ChemBioChem 2006;7:1356-9 (Pubitemid 44369087)
-
(2006)
ChemBioChem
, vol.7
, Issue.9
, pp. 1356-1359
-
-
Compain, P.1
Martin, O.R.2
Boucheron, C.3
Godin, G.4
Yu, L.5
Ikeda, K.6
Asano, N.7
-
93
-
-
85054616839
-
-
WO2006136714
-
Martin OR, Compain P, Boucheron C, Asano N. Novel compounds of the family of iminosugars, uses thereof for treating lysosomal diseases, and methods for preparing same. WO2006136714, 2006
-
(2006)
Novel Compounds of the Family of Iminosugars, Uses Thereof for Treating Lysosomal Diseases, and Methods for Preparing Same
-
-
Martin, O.R.1
Compain, P.2
Boucheron, C.3
Asano, N.4
-
96
-
-
0242452497
-
Generalized anomeric effect in action: Synthesis and evaluation of stable reducing indolizidine glycomimetics as glycosidase inhibitors
-
Diaz-Perez VM, Garcia-Moreno MI, Ortiz Mellet C, et al. Generalized anomeric effect in action: synthesis and evaluation of stable reducing indolizidine glycomimetics as glycosidase inhibitors. J Org Chem 2000;65:136-43
-
(2000)
J Org Chem
, vol.65
, pp. 136-43
-
-
Diaz-Perez, V.M.1
Garcia-Moreno, M.I.2
Ortiz Mellet, C.3
-
98
-
-
18544405939
-
Synthesis and evaluation of isourea-type glycomimetics related to the indolizidine and trehazolin glycosidase inhibitor families
-
DOI 10.1021/jo034673m
-
Garcia-Moreno MI, Diaz-Perez P, Ortiz Mellet C, Garcia Fernandez JM. Synthesis and evaluation of isourea-type glycomimetics related to the indolizidine and trehazolin glycosidase inhibitor families. J Org Chem 2003;68:8890-901 (Pubitemid 37409536)
-
(2003)
Journal of Organic Chemistry
, vol.68
, Issue.23
, pp. 8890-8901
-
-
Garcia-Moreno, M.I.1
Diaz-Perez, P.2
Ortiz Mellet, C.3
Garcia Fernandez, J.M.4
-
100
-
-
41149177189
-
Synthesis and biological evaluation of guanidine-type iminosugars
-
DOI 10.1021/jo702374f
-
Aguilar M, Diaz-Perez P, Garcia-Moreno MI, et al. Synthesis and biological evaluation of guanidine-type iminosugars. J Org Chem 2008;73:1995-8 (Pubitemid 351438921)
-
(2008)
Journal of Organic Chemistry
, vol.73
, Issue.5
, pp. 1995-1998
-
-
Aguilar, M.1
Diaz-Perez, P.2
Garcia-Moreno, M.I.3
Mellet, C.O.4
Garcia Fernandez, J.M.5
-
101
-
-
68149108471
-
Generalized anomeric effect in gem-diamines: Stereoselective synthesis of alpha-N-linked disaccharide mimics
-
Sanchez-Fernandez E, Risquez-Cuadro R, Aguilar-Moncayo M, et al. Generalized anomeric effect in gem-diamines: stereoselective synthesis of alpha-N-linked disaccharide mimics. Org Lett 2009;11:3306-9
-
(2009)
Org Lett
, vol.11
, pp. 3306-9
-
-
Sanchez-Fernandez, E.1
Risquez-Cuadro, R.2
Aguilar-Moncayo, M.3
-
103
-
-
73149123193
-
Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)-deoxynojirimycin
-
Luan Z, Higaki K, Aguilar-Moncayo M, et al. Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)-deoxynojirimycin. ChemBioChem 2009;10:2780-92
-
(2009)
ChemBioChem
, vol.10
, pp. 2780-92
-
-
Luan, Z.1
Higaki, K.2
Aguilar-Moncayo, M.3
-
104
-
-
0029875648
-
Synthesis of potent β-D-glucocerebrosidase inhibitors: N-alkyl-β-valienamines
-
DOI 10.1016/0960-894X(96)00146-1
-
Ogawa S, Ashiura M, Uchida C, et al. Synthesis of potent beta-D-glucocerebrosidase inhibitors: N-alkyl-beta-valienamines. Bioorg Med Chem Lett 1996;6:929-32 (Pubitemid 26149936)
-
(1996)
Bioorganic and Medicinal Chemistry Letters
, vol.6
, Issue.8
, pp. 929-932
-
-
Ogawa, S.1
Ashiuraa, M.2
Uchida, C.3
Watanabe, S.4
Yamazaki, C.5
Yamagishib, K.6
Inokuchi, J.-I.7
-
105
-
-
3242762183
-
N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: A potential chemical chaperone therapy for Gaucher disease
-
DOI 10.1016/j.bbadis.2004.03.007, PII S0925443904000511
-
Lin H, Sugimoto Y, Ohsaki Y, et al. N-Octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease. Biochim Biophys Acta 2004;1689:219-28 (Pubitemid 38981599)
-
(2004)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1689
, Issue.3
, pp. 219-228
-
-
Lin, H.1
Sugimoto, Y.2
Ohsaki, Y.3
Ninomiya, H.4
Oka, A.5
Taniguchi, M.6
Ida, H.7
Eto, Y.8
Ogawa, S.9
Matsuzaki, Y.10
Sawa, M.11
Inoue, T.12
Higaki, K.13
Nanba, E.14
Ohno, K.15
Suzuki, Y.16
-
106
-
-
72649095206
-
The pharmacological chaperone effect of Noctyl- beta-valienamine on human mutant acid beta-glucosidases
-
Luan Z, Li L, Ninomiya H, et al. The pharmacological chaperone effect of Noctyl- beta-valienamine on human mutant acid beta-glucosidases. Blood Cell Mol Dis 2010;44:48-54
-
(2010)
Blood Cell Mol Dis
, vol.44
, pp. 48-54
-
-
Luan, Z.1
Li, L.2
Ninomiya, H.3
-
107
-
-
3242800983
-
M1- gangliosidosis
-
DOI 10.1073/pnas.2536657100
-
Matsuda J, Suzuki O, Oshima A, et al. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci USA 2003;100:15912-17 (Pubitemid 38021089)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.26
, pp. 15912-15917
-
-
Matsuda, J.1
Suzuki, O.2
Oshima, A.3
Yamamoto, Y.4
Noguchi, A.5
Takimoto, K.6
Itoh, M.7
Matsuzaki, Y.8
Yasuda, Y.9
Ogawa, S.10
Sakata, Y.11
Nanba, E.12
Higaki, K.13
Ogawa, Y.14
Tominaga, L.15
Ohno, K.16
Iwasaki, H.17
Watanabe, H.18
Brady, R.O.19
Suzuki, Y.20
more..
-
109
-
-
34548540634
-
Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease
-
Egido-Gabas M, Canals D, Casas J, et al. Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease. ChemMedChem 2007;2:992-4
-
(2007)
ChemMedChem
, vol.2
, pp. 992-4
-
-
Egido-Gabas, M.1
Canals, D.2
Casas, J.3
-
111
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa GH, Tropak MB, Buttner JD, et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009;284:23502-16
-
(2009)
J Biol Chem
, vol.284
, pp. 23502-16
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
-
112
-
-
34247859067
-
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
-
DOI 10.1074/jbc.M609304200
-
Maegawa GH, Tropak M, Buttner J, et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem 2007;282:9150-61 (Pubitemid 47093481)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.12
, pp. 9150-9161
-
-
Maegawa, G.H.B.1
Tropak, M.2
Buttner, J.3
Stockley, T.4
Kok, F.5
Clarke, J.T.R.6
Mahuran, D.J.7
-
118
-
-
77953229340
-
The risk of Parkinson?s disease in type 1 Gaucher disease
-
Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson?s disease in type 1 Gaucher disease. J Inherit Metab Dis 2010;33:167-73
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 167-73
-
-
Bultron, G.1
Kacena, K.2
Al Et, P.D.3
-
119
-
-
77954933661
-
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders
-
Velayati A, Yu WH, Sidransky E. The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. Curr Neurol Neurosci Rep 2010;10:190-8
-
(2010)
Curr Neurol Neurosci Rep
, vol.10
, pp. 190-8
-
-
Velayati, A.1
Yu, W.H.2
Sidransky, E.3
-
120
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson?s disease
-
Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson?s disease. N Engl J Med 2009;361:1651-61
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-61
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
121
-
-
0034118221
-
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
-
Morello JP, Salahpour A, Laperriere A, et al. Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest 2000;105:887-95 (Pubitemid 30203061)
-
(2000)
Journal of Clinical Investigation
, vol.105
, Issue.7
, pp. 887-895
-
-
Morello, J.-P.1
Salahpour, A.2
Laperriere, A.3
Bernier, V.4
Arthus, M.-F.5
Lonergan, M.6
Petaja-Repo, U.7
Angers, S.8
Morin, D.9
Bichet, D.G.10
Bouvier, M.11
-
122
-
-
33745091537
-
Therapy through chaperones: Sense or antisense? Cystic fibrosis as a model disease
-
DOI 10.1007/s10545-006-0251-x
-
Amaral MD. Therapy through chaperones: sense or antisense? Cystic fibrosis as a model disease. J Inherit Metab Dis 2006;29:477-87 (Pubitemid 43880653)
-
(2006)
Journal of Inherited Metabolic Disease
, vol.29
, Issue.2-3
, pp. 477-487
-
-
Amaral, M.D.1
-
123
-
-
0842303213
-
Roles of molecular chaperones in protein misfolding diseases
-
DOI 10.1016/j.semcdb.2003.12.010
-
Barral JM, Broadley SA, Schaffar G, Hartl FU. Roles of molecular chaperones in protein misfolding diseases. Semin Cell Dev Biol 2004;15:17-29 (Pubitemid 38177364)
-
(2004)
Seminars in Cell and Developmental Biology
, vol.15
, Issue.1
, pp. 17-29
-
-
Barral, J.M.1
Broadley, S.A.2
Schaffar, G.3
Hartl, F.U.4
-
125
-
-
11144243412
-
Modulation of neurodegeneration by molecular chaperones
-
DOI 10.1038/nrn1587
-
Muchowski PJ, Wacker JL. Modulation of neurodegeneration by molecular chaperones. Nat Rev Neurosci 2005;6:11-22 (Pubitemid 40052135)
-
(2005)
Nature Reviews Neuroscience
, vol.6
, Issue.1
, pp. 11-22
-
-
Muchowski, P.J.1
Wacker, J.L.2
-
126
-
-
78449266152
-
A fluorescent sp2-iminosugar with pharmacological chaperone activity for Gaucher disease: Synthesis and intracellular distribution studies
-
Luan Z, Higaki K, Aguilar-Moncayo M, et al. A fluorescent sp2-iminosugar with pharmacological chaperone activity for Gaucher disease: synthesis and intracellular distribution studies. ChemBioChem 2010;11:2353-64
-
(2010)
ChemBioChem
, vol.11
, pp. 2353-64
-
-
Luan, Z.1
Higaki, K.2
Aguilar-Moncayo, M.3
-
127
-
-
66249144983
-
Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease
-
Wang GN, Reinkensmeier G, Zhang SW, et al. Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease. J Med Chem 2009;52:3146-9
-
(2009)
J Med Chem
, vol.52
, pp. 3146-9
-
-
Wang, G.N.1
Reinkensmeier, G.2
Zhang, S.W.3
-
131
-
-
78649302683
-
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
-
Witte MD, Kallemeijn WW, Aten J, et al. Ultrasensitive in situ visualization of active glucocerebrosidase molecules. Nat Chem Biol 2010;6:907-13
-
(2010)
Nat Chem Biol
, vol.6
, pp. 907-13
-
-
Witte, M.D.1
Kallemeijn, W.W.2
Aten, J.3
-
132
-
-
59449103114
-
Isofagomine induced stabilization of glucocerebrosidase
-
Kornhaber GJ, Tropak MB, Maegawa GH, et al. Isofagomine induced stabilization of glucocerebrosidase. ChemBioChem 2008;9:2643-9
-
(2008)
ChemBioChem
, vol.9
, pp. 2643-9
-
-
Kornhaber, G.J.1
Tropak, M.B.2
Maegawa, G.H.3
-
133
-
-
59449109683
-
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/ deuterium exchange mass spectrometry
-
Tropak MB, Kornhaber GJ, Rigat BA, et al. Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/ deuterium exchange mass spectrometry. ChemBioChem 2008;9:2650-62
-
(2008)
ChemBioChem
, vol.9
, pp. 2650-62
-
-
Tropak, M.B.1
Kornhaber, G.J.2
Rigat, B.A.3
-
135
-
-
71749118872
-
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase
-
Flanagan JJ, Rossi B, Tang K, et al. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. Hum Mutat 2009;30:1683-92
-
(2009)
Hum Mutat
, vol.30
, pp. 1683-92
-
-
Flanagan, J.J.1
Rossi, B.2
Tang, K.3
-
136
-
-
77953895077
-
Combined therapy of imiglucerase and miglustat in Gaucher disease with severe bone complications
-
Marie I. Combined therapy of imiglucerase and miglustat in Gaucher disease with severe bone complications. Press Medicale 2009;38:2S68-70
-
(2009)
Press Medicale
, vol.38
-
-
Marie, I.1
-
137
-
-
0032576605
-
Aggresomes: A cellular response to misfolded proteins
-
DOI 10.1083/jcb.143.7.1883
-
Johnston JA, Ward CL, Kopito RR. Aggresomes: a cellular response to misfolded proteins. J Cell Biol 1998;143:1883-98 (Pubitemid 29022611)
-
(1998)
Journal of Cell Biology
, vol.143
, Issue.7
, pp. 1883-1898
-
-
Johnston, J.A.1
Ward, C.L.2
Kopito, R.R.3
-
138
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
Mu T-W, Ong DST, Wang Y-J, et al. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008;134:769-81
-
(2008)
Cell
, vol.134
, pp. 769-81
-
-
Mu, T.-W.1
Dst, O.2
Wang, Y.-J.3
|