-
1
-
-
0027302227
-
Gaucher disease. Enzymology, genetics, and treatment
-
10.1007/978-1-4615-3010-7-5 1:CAS:528:DyaK3sXmtVSltbk%3D
-
GA Grabowski 1993 Gaucher disease. Enzymology, genetics, and treatment Adv Hum Genet 21 377 441 10.1007/978-1-4615-3010-7-5 1:CAS:528: DyaK3sXmtVSltbk%3D
-
(1993)
Adv Hum Genet
, vol.21
, pp. 377-441
-
-
Grabowski, G.A.1
-
2
-
-
33846262175
-
Therapy for Gaucher disease: Don't stop thinking about tomorrow
-
DOI 10.1016/j.ymgme.2006.09.007, PII S1096719206003027
-
E Sidransky ME LaMarca EI Ginns 2007 Therapy for Gaucher disease: don't stop thinking about tomorrow Mol Genet Metab 90 2 122 125 10.1016/j.ymgme.2006. 09.007 1:CAS:528:DC%2BD2sXnsl2ksA%3D%3D (Pubitemid 46108615)
-
(2007)
Molecular Genetics and Metabolism
, vol.90
, Issue.2
, pp. 122-125
-
-
Sidransky, E.1
LaMarca, M.E.2
Ginns, E.I.3
-
3
-
-
77958483334
-
Pharmacological small molecules for the treatment of lysosomal storage disorders
-
10.1517/13543784.2010.524205 10.1517/13543784.2010.524205 1:CAS:528:DC%2BC3cXhtlWmurfL
-
BE Smid JM Aerts RG Boot GE Linthorst CE Hollak 2010 Pharmacological small molecules for the treatment of lysosomal storage disorders Expert Opin Investig Drugs 19 11 1367 1379 10.1517/13543784.2010.524205 10.1517/13543784. 2010.524205 1:CAS:528:DC%2BC3cXhtlWmurfL
-
(2010)
Expert Opin Investig Drugs
, vol.19
, Issue.11
, pp. 1367-1379
-
-
Smid, B.E.1
Aerts, J.M.2
Boot, R.G.3
Linthorst, G.E.4
Hollak, C.E.5
-
4
-
-
77949643182
-
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
-
10.1111/j.1742-4658.2010.07588.x 1:CAS:528:DC%2BC3cXktFOntL8%3D
-
R Khanna ER Benjamin L Pellegrino A Schilling BA Rigat R Soska H Nafar BE Ranes J Feng Y Lun AC Powe DJ Palling BA Wustman R Schiffmann DJ Mahuran DJ Lockhart KJ Valenzano 2010 The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase Febs J 277 7 1618 1638 10.1111/j.1742-4658.2010.07588.x 1:CAS:528:DC%2BC3cXktFOntL8%3D
-
(2010)
Febs J
, vol.277
, Issue.7
, pp. 1618-1638
-
-
Khanna, R.1
Benjamin, E.R.2
Pellegrino, L.3
Schilling, A.4
Rigat, B.A.5
Soska, R.6
Nafar, H.7
Ranes, B.E.8
Feng, J.9
Lun, Y.10
Powe, A.C.11
Palling, D.J.12
Wustman, B.A.13
Schiffmann, R.14
Mahuran, D.J.15
Lockhart, D.J.16
Valenzano, K.J.17
-
5
-
-
77950586398
-
Therapy for lysosomal storage disorders
-
1:CAS:528:DC%2BC3cXktlemuw%3D%3D
-
M Beck 2010 Therapy for lysosomal storage disorders IUBMB Life 62 1 33 40 1:CAS:528:DC%2BC3cXktlemuw%3D%3D
-
(2010)
IUBMB Life
, vol.62
, Issue.1
, pp. 33-40
-
-
Beck, M.1
-
6
-
-
77449098166
-
Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics
-
10.1002/emmm.200900036 1:CAS:528:DC%2BD1MXht1CjurrF
-
G Parenti 2009 Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics EMBO Mol Med 1 5 268 279 10.1002/emmm.200900036 1:CAS:528:DC%2BD1MXht1CjurrF
-
(2009)
EMBO Mol Med
, vol.1
, Issue.5
, pp. 268-279
-
-
Parenti, G.1
-
7
-
-
79956258451
-
Pompe disease: From new views on pathophysiology to innovative therapeutic strategies
-
10.2174/138920111795542606 1:CAS:528:DC%2BC3MXmvFehsbg%3D
-
G Parenti G Andria 2011 Pompe disease: from new views on pathophysiology to innovative therapeutic strategies Curr Pharm Biotechnol 12 6 902 915 10.2174/138920111795542606 1:CAS:528:DC%2BC3MXmvFehsbg%3D
-
(2011)
Curr Pharm Biotechnol
, vol.12
, Issue.6
, pp. 902-915
-
-
Parenti, G.1
Andria, G.2
-
8
-
-
79956274761
-
Treatment of fabry disease: Current and emerging strategies
-
10.2174/138920111795542705 1:CAS:528:DC%2BC3MXmvFehsbk%3D
-
P Rozenfeld PM Neumann 2011 Treatment of fabry disease: current and emerging strategies Curr Pharm Biotechnol 12 6 916 922 10.2174/ 138920111795542705 1:CAS:528:DC%2BC3MXmvFehsbk%3D
-
(2011)
Curr Pharm Biotechnol
, vol.12
, Issue.6
, pp. 916-922
-
-
Rozenfeld, P.1
Neumann, P.M.2
-
9
-
-
64249134427
-
Goal-oriented therapy with miglustat in Gaucher disease
-
10.1185/03007990802576518 1:CAS:528:DC%2BD1MXkvFCktrw%3D
-
GM Pastores P Giraldo P Cherin A Mehta 2009 Goal-oriented therapy with miglustat in Gaucher disease Curr Med Res Opin 25 1 23 37 10.1185/ 03007990802576518 1:CAS:528:DC%2BD1MXkvFCktrw%3D
-
(2009)
Curr Med Res Opin
, vol.25
, Issue.1
, pp. 23-37
-
-
Pastores, G.M.1
Giraldo, P.2
Cherin, P.3
Mehta, A.4
-
10
-
-
0017710354
-
Neuropathic Gaucher's disease with normal 4 methylumbelliferyl β glucosidase activity in the liver
-
M Owada T Sakiyama T Kitagawa 1977 Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver Pediatr Res 11 5 641 646 10.1203/00006450-197705000-00004 1:CAS:528:DyaE2sXkt1SjsL8%3D (Pubitemid 8095459)
-
(1977)
Pediatric Research
, vol.11
, Issue.5
, pp. 641-646
-
-
Owada, M.1
Sakiyama, T.2
Kitagawa, T.3
-
11
-
-
0017344996
-
The diagnosis of Gaucher's disease in liver using 4 methylumbelliferyl β D glucopyranoside
-
DOI 10.1016/0009-8981(77)90512-5
-
DM Broadhead J Butterworth 1977 The diagnosis of Gaucher's disease in liver using 4-methylumbelliferyl-beta-D-glucopyranoside Clin Chim Acta 75 1 155 161 10.1016/0009-8981(77)90512-5 1:CAS:528:DyaE2sXhtlGrsrY%3D (Pubitemid 8030870)
-
(1977)
Clinica Chimica Acta
, vol.75
, Issue.1
, pp. 155-161
-
-
Broadhead, D.M.1
Butterworth, J.2
-
12
-
-
57749114618
-
Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening
-
10.2174/138620708786734244 1:CAS:528:DC%2BD1cXhsVSitrvE
-
DJ Urban W Zheng O Goker-Alpan A Jadhav ME Lamarca J Inglese E Sidransky CP Austin 2008 Optimization and validation of two miniaturized glucocerebrosidase enzyme assays for high throughput screening Comb Chem High Throughput Screen 11 10 817 824 10.2174/138620708786734244 1:CAS:528: DC%2BD1cXhsVSitrvE
-
(2008)
Comb Chem High Throughput Screen
, vol.11
, Issue.10
, pp. 817-824
-
-
Urban, D.J.1
Zheng, W.2
Goker-Alpan, O.3
Jadhav, A.4
Lamarca, M.E.5
Inglese, J.6
Sidransky, E.7
Austin, C.P.8
-
13
-
-
0031807867
-
Expression of cytosolic β-glucosidase in guinea pig liver cells
-
DOI 10.1002/hep.510280121
-
WS Hays DE Wheeler B Eghtesad RH Glew DE Johnston 1998 Expression of cytosolic beta-glucosidase in guinea pig liver cells Hepatology 28 1 156 163 10.1002/hep.510280121 1:CAS:528:DyaK1cXks1aqsbo%3D (Pubitemid 28299997)
-
(1998)
Hepatology
, vol.28
, Issue.1
, pp. 156-163
-
-
Hays, W.S.1
Wheeler, D.E.2
Eghtesad, B.3
Glew, R.H.4
Johnston, D.E.5
-
14
-
-
14744300319
-
Screening method for inhibitors against formosan subterranean termite β-glucosidases in vivo
-
BC Zhu G Henderson RA Laine 2005 Screening method for inhibitors against formosan subterranean termite beta-glucosidases in vivo J Econ Entomol 98 1 41 46 10.1603/0022-0493-98.1.41 1:CAS:528:DC%2BD2MXhslyhsbw%3D (Pubitemid 40328462)
-
(2005)
Journal of Economic Entomology
, vol.98
, Issue.1
, pp. 41-46
-
-
Zhu, B.C.R.1
Henderson, G.2
Laine, R.A.3
-
15
-
-
0031149907
-
A flow cytometric assay for lysosomal glucocerebrosidase
-
DOI 10.1006/abio.1997.2090
-
HH van Es M Veldwijk M Havenga D Valerio 1997 A flow cytometric assay for lysosomal glucocerebrosidase Anal Biochem 247 2 268 271 10.1006/abio.1997.2090 (Pubitemid 27200160)
-
(1997)
Analytical Biochemistry
, vol.247
, Issue.2
, pp. 268-271
-
-
Van Es, H.H.G.1
Veldwijk, M.2
Havenga, M.3
Valerio, D.4
-
16
-
-
0018169915
-
Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease
-
Y Ben-Yoseph HL Nadler 1978 Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease J Clin Pathol 31 11 1091 1093 10.1136/jcp.31.11.1091 1:STN:280:DyaE1M7gvF2msQ%3D%3D (Pubitemid 9068639)
-
(1978)
Journal of Clinical Pathology
, vol.31
, Issue.11
, pp. 1091-1093
-
-
Ben-Yoseph, Y.1
Nadler, H.L.2
-
17
-
-
26944480291
-
Heterogeneity in Gaucher disease
-
J.W. Callahan J.A. Lowden (eds). Raven New York
-
Wenger D, Olsen GC (1981) Heterogeneity in Gaucher disease. In: Callahan JW, Lowden JA (eds) Lysosomes and lysosomal storage diseases. Raven, New York, pp 157-171
-
(1981)
Lysosomes and Lysosomal Storage Diseases
, pp. 157-171
-
-
Wenger, D.1
Olsen, G.C.2
-
18
-
-
0018823952
-
Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients
-
FY Choy RG Davidson 1980 Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients Am J Hum Genet 32 5 670 680 1:CAS:528: DyaL3cXmtFOjsbo%3D (Pubitemid 10061687)
-
(1980)
American Journal of Human Genetics
, vol.32
, Issue.5
, pp. 670-680
-
-
Choy, F.Y.M.1
Davidson, R.G.2
-
19
-
-
53049101422
-
A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases
-
10.1016/j.ab.2008.07.024 1:CAS:528:DC%2BD1cXht1SiurfM
-
Y Hayashi K Zama E Abe N Okino T Inoue K Ohno M Ito 2008 A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases Anal Biochem 383 1 122 129 10.1016/j.ab.2008.07.024 1:CAS:528:DC%2BD1cXht1SiurfM
-
(2008)
Anal Biochem
, vol.383
, Issue.1
, pp. 122-129
-
-
Hayashi, Y.1
Zama, K.2
Abe, E.3
Okino, N.4
Inoue, T.5
Ohno, K.6
Ito, M.7
-
20
-
-
33745029879
-
A new, sensitive method for enzyme kinetic studies of scarce glucosides
-
DOI 10.1016/j.jbbm.2006.03.018, PII S0165022X06000765
-
P Mazura R Fohlerova B Brzobohaty NS Kiran L Janda 2006 A new, sensitive method for enzyme kinetic studies of scarce glucosides J Biochem Biophys Methods 68 1 55 63 10.1016/j.jbbm.2006.03.018 1:CAS:528:DC%2BD28XlsFKku7g%3D (Pubitemid 43870310)
-
(2006)
Journal of Biochemical and Biophysical Methods
, vol.68
, Issue.1
, pp. 55-63
-
-
Mazura, P.1
Fohlerova, R.2
Brzobohaty, B.3
Kiran, N.S.4
Janda, L.5
-
21
-
-
67349219428
-
Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease
-
10.1038/mt.2009.37 1:CAS:528:DC%2BD1MXivVKmsrc%3D
-
Y Zhu JL Jiang NK Gumlaw J Zhang SD Bercury RJ Ziegler K Lee M Kudo WM Canfield T Edmunds C Jiang RJ Mattaliano SH Cheng 2009 Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease Mol Ther 17 6 954 963 10.1038/mt.2009.37 1:CAS:528:DC%2BD1MXivVKmsrc%3D
-
(2009)
Mol Ther
, vol.17
, Issue.6
, pp. 954-963
-
-
Zhu, Y.1
Jiang, J.L.2
Gumlaw, N.K.3
Zhang, J.4
Bercury, S.D.5
Ziegler, R.J.6
Lee, K.7
Kudo, M.8
Canfield, W.M.9
Edmunds, T.10
Jiang, C.11
Mattaliano, R.J.12
Cheng, S.H.13
-
22
-
-
77949654790
-
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin- 4(1H)-one analogues as GAA activators
-
10.1016/j.ejmech.2010.01.027 1:CAS:528:DC%2BC3cXjs12qsL4%3D
-
JJ Marugan W Zheng O Motabar N Southall E Goldin E Sidransky RA Aungst K Liu SK Sadhukhan CP Austin 2010 Evaluation of 2-thioxo-2,3,5,6,7,8- hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators Eur J Med Chem 45 5 1880 1897 10.1016/j.ejmech.2010.01.027 1:CAS:528: DC%2BC3cXjs12qsL4%3D
-
(2010)
Eur J Med Chem
, vol.45
, Issue.5
, pp. 1880-1897
-
-
Marugan, J.J.1
Zheng, W.2
Motabar, O.3
Southall, N.4
Goldin, E.5
Sidransky, E.6
Aungst, R.A.7
Liu, K.8
Sadhukhan, S.K.9
Austin, C.P.10
-
24
-
-
0017174536
-
Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate
-
10.1016/0003-9861(76)90547-6 1:CAS:528:DyaE28XkslCjsrs%3D
-
SP Peters P Coyle RH Glew 1976 Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate Arch Biochem Biophys 175 2 569 582 10.1016/0003-9861(76)90547-6 1:CAS:528:DyaE28XkslCjsrs%3D
-
(1976)
Arch Biochem Biophys
, vol.175
, Issue.2
, pp. 569-582
-
-
Peters, S.P.1
Coyle, P.2
Glew, R.H.3
|