Reference on EC 3.2.1.45 - glucosylceramidase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Basu, A.; Glew, R.H.
Characterization of the phospholipid requirement of a rat liver beta-glucosidase
Biochem. J.
224
515-524
1984
Rattus norvegicus
Imai, K.
Characterization of beta-glucosidase as a peripheral enzyme of lysosomal membranes from mouse liver and purification
J. Biochem.
98
1405-1416
1985
Mus musculus
Dale, G.L.; Beutler, E.
Enzyme replacement therapy in Gaucher s disease: a rapid, high-yield method for purification of glucocerebrosidase
Proc. Natl. Acad. Sci. USA
73
4672-4674
1976
Homo sapiens
Schliemann, W.; Schliemann, B.
beta-D-Glucosidasen (EC 3.2.1.21) und glucosylceramidasen (EC 3.2.1.45) des Menschen
Pharmazie
4
243-250
1982
Bos taurus, Homo sapiens, Mus musculus, Rattus norvegicus, Sus scrofa
Strasberg, P.M.; Lowden, J.A.; Mahuran, D.
Purification of glucosylceramidase by affinity chromatography
Can. J. Biochem.
60
1025-1031
1982
Homo sapiens
Daniels, L.B.; Glew, R.H.
beta-D-Glucosidases in tissue
Methods Enzym. Anal. , 3rd Ed. (Bergmeyer, H. U. , ed. )
4
217-226
1984
Bos taurus, Homo sapiens, Mus musculus, Rattus norvegicus, Sus scrofa
-
Ginns, E.I.; Choudary, P.V.; Martin, B.M.; Winfield, S.; Stubblefield, B.; Mayor, J.; Merkle-Lehman, D.; Murray, G.J.; Bowers, L.A.; Barranger, J.A.
Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system
Biochem. Biophys. Res. Commun.
123
574-580
1984
Homo sapiens
Legler, G.; Liedtke, H.
Glucosylceramidase from calf spleen. Characterization of its active site with 4-n-alkylumbelliferyl beta-glucosides and N-alkyl derivatives of 1-deoxynojirimycin
Biol. Chem. Hoppe-Seyler
366
1113-1122
1985
Bos taurus
Aerts, J.M.F.G.; Donker-Koopman, W.E.; Murray, G.J.; Barranger, J.A.; Tager, J.M.; Schram, A.W.
A procedure for the rapid purification in high yield of human glucocerebrosidase using immunoaffinity chromatography with monoclonal antibodies
Anal. Biochem.
154
655-663
1986
Homo sapiens
Choy, F.Y.M.
Purification of human placental glucocerebrosidase using a two-step high-performance hydrophobic and gel permeation column chromatography method
Anal. Biochem.
156
515-520
1986
Homo sapiens
Osiecki-Newman, K.; Fabbro, D.; Legler, G.; Desnick, R.J.; Grabowski, G.A.
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites
Biochim. Biophys. Acta
915
87-100
1987
Homo sapiens
Schram, A.W.; Aerts, J.M.F.G.; van Weely, S.; Barranger, J.A.; Tager, J.M.
Glucocerebrosidase, a membrane-associated lysosomal enzyme deficient in Gaucher disease
Methodol. Surv. Biochem. Anal.
17
113-126
1987
Homo sapiens
-
Maret, A.; Salvayre, R.; Potier, M.; Legler, G.; Beauregard, G.; Douste-Blazy, L.
Comparison of human membrane-bound beta-glucosidases: lysosomal glucosylceramide-beta-glucosidase and non-specific beta-glucosidase
NATO ASI Ser. A, Life Sci.
150
57-61
1988
Homo sapiens
-
Choy, F.Y.M.
Purification of lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts using high-performance liquid chromatography
Anal. Biochem.
179
312-318
1989
Homo sapiens
Shafit-Zagardo, B.; Turner, B.M.
Human beta-glucosidase: inhibition by sulphates and purification by affinity chromatography on Dextran-sulphate-Sepharose
Biochim. Biophys. Acta
659
7-14
1981
Homo sapiens
Brady, R.O.; Kanfer, J.; Shapiro, D.
The metabolism of glucocerebrosides
J. Biol. Chem.
240
39-43
1965
Homo sapiens, Rattus norvegicus
Pentchev, P.G.; Brady, R.O.; Hibbert, S.R.; Gal, A.E.; Shapiro, D.
Isolation and characterization of glucocerebrosidase from human placental tissue
J. Biol. Chem.
248
5256-5261
1973
Homo sapiens
Braidman, I.P.; Gregoriadis, G.
Rapid partial purification of placental glucocerebroside beta-glucosidase and its entrapment in liposomes
Biochem. J.
164
439-445
1977
Homo sapiens
Furbish, F.S.; Blair, H.E.; Shiloach, J.; Pentchev, P.G.; Brady, R.O.
Glucocerebrosidase from human placenta
Methods Enzymol.
50
529-532
1978
Homo sapiens
Pirruccello, S.; Barranger, J.A.; Barton, N.W.; Brady, R.O.; Ginns, E.I.
Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher s disease
Biochem. Med.
31
73-79
1984
Homo sapiens, Sus scrofa
Reddy, P.U.M.; Murray, G.J.; Barranger, J.A.
Purification and characterization of bovine brain glucocerebrosidase
Biochem. Med.
33
200-210
1985
Bos taurus
Murray, G.J.; Youle, R.J.; Gandy, S.E.; Zirzow, G.C.; Barranger, J.A.
Purification of beta-glucocerebrosidase by preparative-scale high-performance liquid chromatography: the use of ethylene glycol-containing buffers for chromatography of hydrophobic glycoprotein enzymes
Anal. Biochem.
147
301-310
1985
Homo sapiens
Tager, J.M.; Aerts, J.M.F.G.; Jonsson, L.M.V.; Murray, G.J.; van Weeley, S.; Strijland, A.; Ginns, E.I.; Reuser, A.J.J.; Schram, A.W.; Barranger, J.A.
Molecular forms, biosynthesis and maturation of glucocerebrosidase, a membrane-associated lysosomal enzyme deficient in Gaucher disease
NATO ASI Ser. A, Life Sci.
116
735-745
1986
Homo sapiens
-
Legler, G.
beta-Glucocerebrosidase: mechanistic studies with covalent and non-covalent inhibitors
NATO ASI Ser. A, Life Sci.
150
63-72
1988
Bos taurus, Homo sapiens, Mus musculus, Rattus norvegicus, Sus scrofa
-
Liedtke, H.; Legler, G.
Spleenic glucocerebrosidase and its cytosolic activator protein: effects on substrate hydrolysis and covalent inhibition by conduritol B epoxides
NATO ASI Ser. A, Life Sci.
150
353-358
1988
Bos taurus
-
Grace, M.E.; Graves, P.N.; Smith, F.I.; Grabowski, G.A.
Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations
J. Biol. Chem.
265
6827-6835
1990
Homo sapiens
Choy, F.Y.; Woo, M.
Purification and the effect of peptide N-glycosidase F on lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts
Biochem. Cell Biol.
69
551-556
1991
Homo sapiens
Aerts, J.M.; Sa Miranda, M.C.; Brouwer-Kelder, E.M.; Van Weely, S.; Barranger, J.A.; Tager, J.M.
Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease
Biochim. Biophys. Acta
1041
55-63
1990
Homo sapiens
Greenberg, P.; Merrill, A.H.; Liotta, D.C.; Grabowski, G.A.
Human acid beta-glucosidase: use of sphingosyl and N-alkyl-glucosylamine inhibitors to investigate the properties of the active site
Biochim. Biophys. Acta
1039
12-20
1990
Homo sapiens
Ohashi, T.; Hong, C.M.; Weiler, S.; Tomich, J.M.; Aerts, J.M.; Tager, J.M.; Barranger, J.A.
Characterization of human glucocerebrosidase from different mutant alleles
J. Biol. Chem.
266
3661-3667
1991
Homo sapiens
Fabbro, D.; Grabowski, G.A.
Human acid beta-glucosidase. Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites
J. Biol. Chem.
266
15021-15027
1991
Homo sapiens
Van Weely, S.; Van Leeuwen, M.B.; Jansen, I.D.; De Bruijn, M.A.; Brouwer-Kelder, E.M.; Schram, A.W.; Sa Miranda, M.C.; Barranger, J.A.; Petersen, E.M.; Goldblatt, J.; Stotz, H.; Schwarzmann, G.; Sandhoff, K.; Svennerholm, L.; Erikson, A.; Tager, J.M.; et.al.
Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts
Biochim. Biophys. Acta
1096
301-311
1991
Homo sapiens
Atsumi, S.; Nosaka, C.; Iinuma, H.; Umezawa, K.
Inhibition of glucocerebrosidase and induction of neural abnormality by cyclophellitol in mice
Arch. Biochem. Biophys.
297
362-367
1992
Mus musculus
Holleran, W.M.; Takagi, Y.; Imokawa, G.; Jackson, S.; Lee, J.M.; Elias, P.M.
beta-Glucocerebrosidase activity in murine epidermis: characterization and localization in relation to differentiation
J. Lipid Res.
33
1201-1209
1992
Mus musculus
Carstea, E.D.; Murray, G.J.; O'Neill, R.R.
Molecular and functional characterization of the murine glucocerebrosidase gene
Biochem. Biophys. Res. Commun.
184
1477-1483
1992
Mus musculus (P17439), Mus musculus
Qi, X.; Leonova, T.; Grabowski, G.A.
Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase
J. Biol. Chem.
269
16746-16753
1994
Homo sapiens
Michelakakis, H.; Dimitriou, E.; Van Weely, S.; Boot, R.G.; Mavridou, I.; Verhoek, M.; Aerts, J.M.
Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
J. Inherit. Metab. Dis.
18
609-615
1995
Homo sapiens
Matern, H.; Heinemann, H.; Legler, G.; Matern, S.
Purification and characterization of a microsomal bile acid beta-glucosidase from human liver
J. Biol. Chem.
272
11261-11267
1997
Homo sapiens
Friedman, B.; Vaddi, K.; Preston, C.; Mahon, E.; Cataldo, J.R.; McPherson, J.M.
A comparison of the pharmacological properties of carbohydrate remodeled recombinant and placental-derived beta-glucocerebrosidase: implications for clinical efficacy in treatment of Gaucher disease
Blood
93
2807-2816
1999
Homo sapiens
Amaral, O.; Marcao, A.; Sa Miranda, M.; Desnick, R.J.; Grace, M.E.
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients
Eur. J. Hum. Genet.
8
95-102
2000
Homo sapiens (P04062), Homo sapiens
Roeber, D.; Achari, A.; Manavalan, P.; Edmunds, T.; Scott, D.L.
Crystallization and preliminary X-ray analysis of recombinant human acid beta-glucocerebrosidase, a treatment for Gaucher's disease
Acta Crystallogr. Sect. D
59
343-344
2003
Homo sapiens
Paal, K.; Ito, M.; Withers, S.G.
Paenibacillus sp. TS12 glucosylceramidase: kinetic studies of a novel sub-family of family 3 glycosidases and identification of the catalytic residues
Biochem. J.
378
141-149
2004
Paenibacillus sp.
Alfonso, P.; Rodriguez-Rey, J.C.; Ganan, A.; Perez-Calvo, J.I.; Giralt, M.; Giraldo, P.; Pocovi, M.
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients
Blood Cells Mol. Dis.
32
218-225
2004
Homo sapiens (P04062), Homo sapiens
Dvir, H.; Harel, M.; McCarthy, A.A.; Toker, L.; Silman, I.; Futerman, A.H.; Sussman, J.L.
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease
EMBO Rep.
4
704-709
2003
Homo sapiens
Hodanova, K.; Melkova, Z.; Horowitz, M.; Hrebicek, M.
Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system
Eur. J. Hum. Genet.
11
369-374
2003
Homo sapiens
Salvioli, R.; Tatti, M.; Ciaffoni, F.; Vaccaro, A.M.
Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids
FEBS Lett.
472
17-21
2000
Homo sapiens
Fabrega, S.; Durand, P.; Codogno, P.; Bauvy, C.; Delomenie, C.; Henrissat, B.; Martin, B.M.; McKinney, C.; Ginns, E.I.; Mornon, J.P.; Lehn, P.
Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells
Glycobiology
10
1217-1224
2000
Homo sapiens
Ikeda, K.; Kato, A.; Adachi, I.; Haraguchi, M.; Asano, N.
Alkaloids from the poisonous plant Ipomoea carnea: effects on intracellular lysosomal glycosidase activities in human lymphoblast cultures
J. Agric. Food Chem.
51
7642-7646
2003
Homo sapiens, Rattus norvegicus
Sumida, T.; Sueyoshi, N.; Ito, M.
Molecular cloning and characterization of a novel glucocerebrosidase of Paenibacillus sp. TS12
J. Biochem.
132
237-243
2002
Paenibacillus sp.
Salvioli, R.; Scarpa, S.; Ciaffoni, F.; Tatti, M.; Ramoni, C.; Vanier, M.T.; Vaccaro, A.M.
Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C
J. Biol. Chem.
279
17674-17680
2004
Homo sapiens
Zhu, Y.; Li, X.; Schuchman, E.H.; Desnick, R.J.; Cheng, S.H.
Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages
J. Pharmacol. Exp. Ther.
308
705-711
2004
Homo sapiens
Leonova, T.; Grabowski, G.A.
Fate and sorting of acid beta-glucosidase in transgenic mammalian cells
Mol. Genet. Metab.
70
281-294
2000
Homo sapiens
Lwin, A.; Orvisky, E.; Goker-Alpan, O.; LaMarca, M.E.; Sidransky, E.
Glucocerebrosidase mutations in subjects with parkinsonism
Mol. Genet. Metab.
81
70-73
2004
Homo sapiens
Qi, X.; Grabowski, G.A.
Molecular and cell biology of acid beta-glucosidase and prosaposin
Prog. Nucleic Acid Res. Mol. Biol.
66
203-239
2001
Homo sapiens
Sinclair, G.; Choy, F.Y.
Synonymous codon usage bias and the expression of human glucocerebrosidase in the methylotrophic yeast, Pichia pastoris
Protein Expr. Purif.
26
96-105
2002
Homo sapiens
Sawkar, A.R.; Schmitz, M.; Zimmer, K.; Reczek, D.; Edmunds, T.; Balch, W.E.; Kelly, J.W.
Chemical chaperones and permissive temperatures alter the cellular localization of Gaucher disease associated glucocerebrosidase variants
ACS Chem. Biol.
1
235-251
2006
Homo sapiens
Watt Chan, K.; Waire, J.; Simons, B.; Karey, K.; Fung, J.; Copelans, D.; Andrews, L.
Measurement of lysosomal glucocerebrosidase activity in mouse liver using a fluorescence-activated cell sorter assay
Anal. Biochem.
334
227-233
2004
Mus musculus
Kim, E.Y.; Hong, Y.B.; Lai, Z.; Kim, H.J.; CHO, Y.H.; Brady, R.O.; Jung, S.C.
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of gaucher disease
Biochem. Biophys. Res. Commun.
318
381-390
2004
Homo sapiens
Salvioli, R.; Tatti, M.; Scarpa, S.; Moavero, S.M.; Ciaffoni, F.; Felicetti, F.; Kaneski, C.R.; Brady, R.O.; Vaccaro, A.M.
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C
Biochem. J.
390
95-103
2005
Homo sapiens
Lamghari, M.; Barrias, C.C.; Miranda, C.S.; Barbosa, M.A.
Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model
Blood Cells Mol. Dis.
35
348-354
2005
Homo sapiens
Sawkar, A.R.; Adamski-Werner, S.L.; Cheng, W.C.; Wonf, C.H.; Beutler, E.; Zimmer, K.P.; Kelly, J.W.
Gaucher disease-associated glucocerebrosidases show mutation-dependent chenical chaperoning profiles
Chem. Biol.
12
1235-1244
2005
Homo sapiens
Stratil, A.; Wagenknecht, D.; van Poucke, M.; Kubickova, S.; Bartenschlager, H.; Musilova, P.; Rubes, J.; Geldermann, H.; Peelman, L.J.
Comparative and genetic analysis of the porcine glucocerebrosidase (GBA) gene
Comp. Biochem. Physiol. B
138B
377-383
2004
Sus scrofa (Q70KH2)
-
Church, H.J.; Cooper, A.; Stewart, F.; Thornton, C.M.; Wraith, J.E.
Homozygous loss of a cysteine residue in the glucocerebroside gene results in Gaucher's disease with a hydripic phenotype
Eur. J. Hum. Genet.
12
975-978
2004
Homo sapiens
Schmitz, M.; Alfalah, M.; Aerts, J.M.F.G.; Naim, H.Y.; Zimmer, K.P.
Impaired trafficking of mutants of lysosomal glucocerebrosidase in gaucher's disease
Int. J. Biochem. cell Biol.
37
2310-2320
2005
Homo sapiens
Premkumar, L.; Sawkar, A.R.; Boldin-Adamsky, S.; Toker, L.; Silman, I.; Kelly, J.W.; Futerman, A.H.; Sussman, J.L.
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide: implications for Gaucher disease
J. Biol. Chem.
280
23815-23819
2005
Homo sapiens (P04062), Homo sapiens
Alessandrini, F.; Pfister, S.; Kremmer, E.; Gerber, J.K.; Ring, J.; Behrendt, H.
Alterations of glycosylceramide-beta-glucosidase levels in the skin of patients with Psoriasis vulgaris
J. Invest. Dermatol.
123
1030-1036
2004
Homo sapiens
Sun, Y.; Quinn, B.; Witte, D.P.; Grabowski, G.A.
Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants
J. Lipid Res.
46
2102-2113
2005
Mus musculus
Aharon-Peretz, J.; Badarny, S.; Rosenbaum, H.; Gershoni-Baruch, R.
Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation
Neurology
65
1460-1461
2005
Homo sapiens
Reggi, S.; Marchetti, S.; Patti, T.; de Amicis, F.; Cariati, R.; Bembi, B.; Fogher, C.
Recombinant human acid beta-glucosidase stored in tobacco seed is stable, active and taken up by human fibroblasts
Plant Mol. Biol.
57
101-113
2005
Homo sapiens
Brumshtein, B.; Wormald, M.R.; Silman, I.; Futerman, A.H.; Sussman, J.L.
Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease
Acta Crystallogr. Sect. D
62
1458-1465
2006
Homo sapiens (P04062), Homo sapiens
Bleijlevens, B.; van Breemen, M.J.; Donker-Koopman, W.E.; de Koster, C.G.; Aerts, J.M.
Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gauchers disease
Anal. Biochem.
372
52-61
2008
Homo sapiens
Sinclair, G.; Pfeifer, T.A.; Grigliatti, T.A.; Choy, F.Y.
Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences
Biochem. Cell Biol.
84
148-156
2006
Homo sapiens
Steet, R.; Chung, S.; Lee, W.S.; Pine, C.W.; Do, H.; Kornfeld, S.
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase
Biochem. Pharmacol.
73
1376-1383
2007
Homo sapiens
Huang, W.; Zheng, W.; Urban, D.J.; Inglese, J.; Sidransky, E.; Austin, C.P.; Thomas, C.J.
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease
Bioorg. Med. Chem. Lett.
17
5783-5789
2007
Homo sapiens
Boucheron, C.; Toumieux, S.; Compain, P.; Martin, O.R.; Ikeda, K.; Asano, N.
Synthesis of 4-O-glycosylated 1-deoxynojirimycin derivatives as disaccharide mimics-based inhibitors of human beta-glucocerebrosidase
Carbohydr. Res.
342
1960-1965
2007
Homo sapiens
Chang, H.H.; Asano, N.; Ishii, S.; Ichikawa, Y.; Fan, J.Q.
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients
FEBS J.
273
4082-4092
2006
Homo sapiens
Van Patten, S.M.; Hughes, H.; Huff, M.R.; Piepenhagen, P.A.; Waire, J.; Qiu, H.; Ganesa, C.; Reczek, D.; Ward, P.V.; Kutzko, J.P.; Edmunds, T.
Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease
Glycobiology
17
467-478
2007
Homo sapiens
Boot, R.G.; Verhoek, M.; Donker-Koopman, W.; Strijland, A.; van Marle, J.; Overkleeft, H.S.; Wennekes, T.; Aerts, J.M.
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2
J. Biol. Chem.
282
1305-1312
2007
Homo sapiens
Brumshtein, B.; Greenblatt, H.M.; Butters, T.D.; Shaaltiel, Y.; Aviezer, D.; Silman, I.; Futerman, A.H.; Sussman, J.L.
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.
282
29052-29058
2007
Homo sapiens (P04062), Homo sapiens
Hayashi, Y.; Okino, N.; Kakuta, Y.; Shikanai, T.; Tani, M.; Narimatsu, H.; Ito, M.
Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase
J. Biol. Chem.
282
30889-30900
2007
Homo sapiens
Walden, C.M.; Sandhoff, R.; Chuang, C.C.; Yildiz, Y.; Butters, T.D.; Dwek, R.A.; Platt, F.M.; van der Spoel, A.C.
Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis
J. Biol. Chem.
282
32655-32664
2007
Mus musculus
Alfonso, P.; Aznarez, S.; Giralt, M.; Pocovi, M.; Giraldo, P.; Giraldo, P.
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain
J. Hum. Genet.
52
391-396
2007
Homo sapiens (P04062), Homo sapiens
Sun, Y.; Quinn, B.; Xu, Y.H.; Leonova, T.; Witte, D.P.; Grabowski, G.A.
Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model
J. Lipid Res.
47
2161-2170
2006
Homo sapiens
Zubrzycki, I.Z.; Borcz, A.; Wiacek, M.; Hagner, W.
The studies on substrate, product and inhibitor binding to a wild-type and neuronopathic form of human acid-beta-glucosidase
J. Mol. Model.
13
1133-1139
2007
Homo sapiens (P04062), Homo sapiens
Ziegler, S.G.; Eblan, M.J.; Gutti, U.; Hruska, K.S.; Stubblefield, B.K.; Goker-Alpan, O.; LaMarca, M.E.; Sidransky, E.
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease
Mol. Genet. Metab.
91
195-200
2007
Homo sapiens
Goker-Alpan, O.; Giasson, B.I.; Eblan, M.J.; Nguyen, J.; Hurtig, H.I.; Lee, V.M.; Trojanowski, J.Q.; Sidransky, E.
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
Neurology
67
908-910
2006
Homo sapiens
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. USA
103
13813-13818
2006
Homo sapiens
Zheng, W.; Padia, J.; Urban, D.J.; Jadhav, A.; Goker-Alpan, O.; Simeonov, A.; Goldin, E.; Auld, D.; LaMarca, M.E.; Inglese, J.; Austin, C.P.; Sidransky, E.
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
Proc. Natl. Acad. Sci. USA
104
13192-13197
2007
Homo sapiens
Mata, I.F.; Samii, A.; Schneer, S.H.; Roberts, J.W.; Griffith, A.; Leis, B.C.; Schellenberg, G.D.; Sidransky, E.; Bird, T.D.; Leverenz, J.B.; Tsuang, D.; Zabetian, C.P.
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
Arch. Neurol.
65
379-382
2008
Homo sapiens
Kornhaber, G.J.; Tropak, M.B.; Maegawa, G.H.; Tuske, S.J.; Coales, S.J.; Mahuran, D.J.; Hamuro, Y.
Isofagomine induced stabilization of glucocerebrosidase
ChemBioChem
9
2643-2649
2008
Homo sapiens (P04062)
Tropak, M.B.; Kornhaber, G.J.; Rigat, B.A.; Maegawa, G.H.; Buttner, J.D.; Blanchard, J.E.; Murphy, C.; Tuske, S.J.; Coales, S.J.; Hamuro, Y.; Brown, E.D.; Mahuran, D.J.
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry
ChemBioChem
9
2650-2662
2008
Homo sapiens
Emre, S.; Guerakan, F.; Yuece, A.; Rolf, A.; Scott, R.; Ozen, H.
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene
Eur. J. Med. Genet.
51
315-321
2008
Homo sapiens
Goker-Alpan, O.; Wiggs, E.A.; Eblan, M.J.; Benko, W.; Ziegler, S.G.; Sidransky, E.; Schiffmann, R.
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
J. Pediatr.
153
89-94
2008
Homo sapiens
Parnetti, L.; Balducci, C.; Pierguidi, L.; De Carlo, C.; Peducci, M.; DAmore, C.; Padiglioni, C.; Mastrocola, S.; Persichetti, E.; Paciotti, S.; Bellomo, G.; Tambasco, N.; Rossi, A.; Beccari, T.; Calabresi, P.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in dementia with Lewy Bodies
Neurobiol. Dis.
34
484-486
2009
Homo sapiens
Clark, L.N.; Kartsaklis, L.A.; Wolf Gilbert, R.; Dorado, B.; Ross, B.M.; Kisselev, S.; Verbitsky, M.; Mejia-Santana, H.; Cote, L.J.; Andrews, H.; Vonsattel, J.P.; Fahn, S.; Mayeux, R.; Honig, L.S.; Marder, K.
Association of glucocerebrosidase mutations with dementia with lewy bodies
Arch. Neurol.
66
578-583
2009
Homo sapiens
Pastores, G.M.
Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease
BioDrugs
24
41-47
2010
Homo sapiens
Schoenemann, W.; Gallienne, E.; Compain, P.; Ikeda, K.; Asano, N.; Martin, O.R.
Synthesis of new beta-1-C-alkylated imino-L-iditols: A comparative study of their activity as beta-glucocerebrosidase inhibitors
Bioorg. Med. Chem.
18
2645-2650
2010
Homo sapiens
Scherpenzeel, M.; van den Berg, R.; Donker-Koopman, W.; Liskamp, R.; Aerts, J.; Overkleeft, H.; Pieters, R.
Nanomolar affinity, iminosugar-based chemical probes for specific labeling of lysosomal glucocerebrosidase
Bioorg. Med. Chem.
18
267-273
2010
Homo sapiens
Sanchez-Olle, G.; Duque, J.; Egido-Gabas, M.; Casas, J.; Lluch, M.; Chabas, A.; Grinberg, D.; Vilageliu, L.
Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease
Blood Cells Mol. Dis.
42
159-166
2009
Homo sapiens
Neumann, J.; Bras, J.; Deas, E.; OSullivan, S.S.; Parkkinen, L.; Lachmann, R.H.; Li, A.; Holton, J.; Guerreiro, R.; Paudel, R.; Segarane, B.; Singleton, A.; Lees, A.; Hardy, J.; Houlden, H.; Revesz, T.; Wood, N.W.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinsons disease
Brain
132
1783-1794
2009
Homo sapiens
Aureli, M.; Masilamani, A.P.; Illuzzi, G.; Loberto, N.; Scandroglio, F.; Prinetti, A.; Chigorno, V.; Sonnino, S.
Activity of plasma membrane beta-galactosidase and beta-glucosidase
FEBS Lett.
583
2469-2473
2009
Homo sapiens (Q9HCG7)
Brumshtein, B.; Salinas, P.; Peterson, B.; Chan, V.; Silman, I.; Sussman, J.L.; Savickas, P.J.; Robinson, G.S.; Futerman, A.H.
Characterization of gene-activated human acid-beta-glucosidase: Crystal structure, glycan composition, and internalization into macrophages
Glycobiology
20
24-32
2010
Homo sapiens (P04062), Homo sapiens
Blanz, J.; Groth, J.; Zachos, C.; Wehling, C.; Saftig, P.; Schwake, M.
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase
Hum. Mol. Genet.
19
563-572
2010
Homo sapiens
Blech-Hermoni, Y.; Ziegler, S.; Hruska, K.; Stubblefield, B.; LaMarca, M.; Portnoy, M.; Green, E.; Sidransky, E.
In silico and functional studies of the regulation of the glucocerebrosidase gene
Mol. Genet. Metab.
99
275-282
2010
Bos taurus, Canis lupus familiaris, Homo sapiens
Aviezer, D.; Brill-Almon, E.; Shaaltiel, Y.; Hashmueli, S.; Bartfeld, D.; Mizrachi, S.; Liberman, Y.; Freeman, A.; Zimran, A.; Galun, E.
A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation
PLoS ONE
4
e4792
2009
Homo sapiens
Wang, F.; Chou, A.; Segatori, L.
Lacidipine remodels protein folding and Ca2+ homeostasis in Gauchers disease fibroblasts: A mechanism to rescue mutant glucocerebrosidase
Chem. Biol.
18
766-776
2011
Homo sapiens
Legini, E.; Orsini, J.J.; Hung, C.; Martin, M.; Showers, A.; Scarpa, M.; Zhang, X.K.; Keutzer, J.; Muehl, A.; Bodamer, O.A.
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry
Clin. Chim. Acta
412
343-346
2011
Homo sapiens
Trapero, A.; Alfonso, I.; Butters, T.D.; Llebaria, A.
Polyhydroxylated bicyclic isoureas and guanidines are potent glucocerebrosidase inhibitors and nanomolar enzyme activity enhancers in Gaucher cells
J. Am. Chem. Soc.
133
5474-5484
2011
Homo sapiens
Horowitz, M.; Pasmanik-Chor, M.; Ron, I.; Kolodny, E.H.
The enigma of the E326K mutation in acid beta-glucocerebrosidase
Mol. Genet. Metab.
104
35-38
2011
Homo sapiens
Brumshtein, B.; Aguilar-Moncayo, M.; Benito, J.M.; Garcia Fernandez, J.M.; Silman, I.; Shaaltiel, Y.; Aviezer, D.; Sussman, J.L.; Futerman, A.H.; Ortiz Mellet, C.
Cyclodextrin-mediated crystallization of acid beta-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues
Org. Biomol. Chem.
9
4160-4167
2011
Homo sapiens
Bobst, C.E.; Thomas, J.J.; Salinas, P.A.; Savickas, P.; Kaltashov, I.A.
Impact of oxidation on protein therapeutics: conformational dynamics of intact and oxidized acid-beta-glucocerebrosidase at near-physiological pH
Protein Sci.
19
2366-2378
2010
Homo sapiens
Tekoah, Y.; Tzaban, S.; Kizhner, T.; Hainrichson, M.; Gantman, A.; Golembo, M.; Aviezer, D.; Shaaltiel, Y.
Glycosylation and functionality of recombinant beta-glucocerebrosidase from various production systems
Biosci. Rep.
33
e00071
2013
Homo sapiens
Patnaik, S.; Zheng, W.; Choi, J.H.; Motabar, O.; Southall, N.; Westbroek, W.; Lea, W.A.; Velayati, A.; Goldin, E.; Sidransky, E.; Leister, W.; Marugan, J.J.
Discovery, structure-activity relationship, and biological evaluation of non-inhibitory small molecule chaperones of glucocerebrosidase
J. Med. Chem.
55
5734-5748
2012
Homo sapiens
Ghisaidoobe, A.T.; van den Berg, R.J.; Butt, S.S.; Strijland, A.; Donker-Koopman, W.E.; Scheij, S.; van den Nieuwendijk, A.M.; Koomen, G.J.; van Loevezijn, A.; Leemhuis, M.; Wennekes, T.; van der Stelt, M.; van der Marel, G.A.; van Boeckel, C.A.; Aerts, J.M.; Overkleeft, H.S.
Identification and development of biphenyl substituted iminosugars as improved dual glucosylceramide synthase/neutral glucosylceramidase inhibitors
J. Med. Chem.
57
9096-9104
2014
Homo sapiens (P04062), Homo sapiens (Q9HCG7)
He, X.; Galpin, J.; Miao, Y.; Jiang, L.; Grabowski, G.; Kermode, A.
Membrane anchors effectively traffic recombinant human glucocerebrosidase to the protein storage vacuole of Arabidopsis seeds but do not adequately control N-glycan maturation
Plant Cell Rep.
33
2023-2032
2014
Homo sapiens
Babajani, G.; Kermode, A.R.
Alteration of the proteostasis network of plant cells promotes the post-endoplasmic reticulum trafficking of recombinant mutant (L444P) human beta-glucocerebrosidase
Plant Signal. Behav.
9
e28714
2014
Homo sapiens
Yang, C.; Swallows, C.L.; Zhang, C.; Lu, J.; Xiao, H.; Brady, R.O.; Zhuang, Z.
Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones
Proc. Natl. Acad. Sci. USA
111
249-254
2014
Homo sapiens
Charoenwattanasatien, R.; Pengthaisong, S.; Breen, I.; Mutoh, R.; Sansenya, S.; Hua, Y.; Tankrathok, A.; Wu, L.; Songsiriritthigul, C.; Tanaka, H.; Williams, S.J.; Davies, G.J.; Kurisu, G.; Cairns, J.R.
Bacterial beta-glucosidase reveals the structural and functional basis of genetic defects in human glucocerebrosidase 2 (GBA2)
ACS Chem. Biol.
11
1891-1900
2016
Thermoanaerobacterium xylanolyticum (F6BL85), Thermoanaerobacterium xylanolyticum, Thermoanaerobacterium xylanolyticum GH116 (F6BL85)
Ben Bdira, F.; Kallemeijn, W.W.; Oussoren, S.V.; Scheij, S.; Bleijlevens, B.; Florea, B.I.; van Roomen, C.P.A.A.; Ottenhoff, R.; van Kooten, M.J.F.M.; Walvoort, M.T.C.; Witte, M.D.; Boot, R.G.; Ubbink, M.; Overkleeft, H.S.; Aerts, J.M.F.G.
Stabilization of glucocerebrosidase by active site occupancy
ACS Chem. Biol.
12
1830-1841
2017
Homo sapiens (P04062)
Nam, H.J.; Kwon, J.Y.; Choi, H.Y.; Kang, S.H.; Jung, H.S.; Kim, D.I.
Production and purification of recombinant glucocerebrosidase in transgenic rice cell suspension cultures
Appl. Biochem. Biotechnol.
181
1401-1415
2017
Homo sapiens
Mishra, A.; Chandravanshi, L.P.; Trigun, S.K.; Krishnamurthy, S.
Ambroxol modulates 6-hydroxydopamine-induced temporal reduction in glucocerebrosidase (GCase) enzymatic activity and Parkinsons disease symptoms
Biochem. Pharmacol.
155
479-493
2018
Rattus norvegicus
Astudillo, L.; Therville, N.; Colacios, C.; Segui, B.; Andrieu-Abadie, N.; Levade, T.
Glucosylceramidases and malignancies in mammals
Biochimie
125
267-280
2016
Homo sapiens (P04062), Homo sapiens (Q9HCG7), Homo sapiens
Yadav, A.K.; Shen, D.L.; Shan, X.; He, X.; Kermode, A.R.; Vocadlo, D.J.
Fluorescence-quenched substrates for live cell imaging of human glucocerebrosidase activity
J. Am. Chem. Soc.
137
1181-1189
2015
Homo sapiens (P04062), Homo sapiens
Woeste, M.A.; Stern, S.; Raju, D.N.; Grahn, E.; Dittmann, D.; Gutbrod, K.; Doermann, P.; Hansen, J.N.; Schonauer, S.; Marx, C.E.; Hamzeh, H.; Koerschen, H.G.; Aerts, J.M.F.G.; Boenigk, W.; Endepols, H.; Sandhoff, R.; Geyer, M.; Berger, T.K.; Bradke, F.; Wachten, D.
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations
J. Biol. Chem.
294
3853-3871
2019
Mus musculus (Q69ZF3), Mus musculus
Ortega, R.A.; Torres, P.A.; Swan, M.; Nichols, W.; Boschung, S.; Raymond, D.; Barrett, M.J.; Johannes, B.A.; Severt, L.; Shanker, V.; Hunt, A.L.; Bressman, S.; Pastores, G.M.; Saunders-Pullman, R.
Glucocerebrosidase enzyme activity in GBA mutation Parkinson disease
J. Clin. Neurosci.
28
185-186
2016
Homo sapiens
Zheng, J.; Jeon, S.; Jiang, W.; Burbulla, L.F.; Ysselstein, D.; Oevel, K.; Krainc, D.; Silverman, R.B.
Conversion of quinazoline modulators from inhibitors to activators of beta-glucocerebrosidase
J. Med. Chem.
62
1218-1230
2019
Homo sapiens (P04062)
Wolf, P.; Alcalay, R.N.; Liong, C.; Cullen, E.; Pauciulo, M.W.; Nichols, W.C.; Gan-Or, Z.; Chung, W.K.; Faulkner, T.; Bentis, C.; Pomponio, R.J.; Ma, X.; Kate Zhang, X.; Keutzer, J.M.; Oliva, P.
Tandem mass spectrometry assay of beta-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
Mol. Genet. Metab.
123
135-139
2018
Homo sapiens (P04062)
Massimo, A.; Maura, S.; Nicoletta, L.; Giulia, M.; Valentina, M.; Elena, C.; Alessandro, P.; Rosaria, B.; Sandro, S.
Current and novel aspects on the non-lysosomal beta-glucosylceramidase GBA2
Neurochem. Res.
41
210-220
2016
Homo sapiens (Q9HCG7)
Stauffert, F.; Serra-Vinardell, J.; Gomez-Grau, M.; Michelakakis, H.; Mavridou, I.; Grinberg, D.; Vilageliu, L.; Casas, J.; Bodlenner, A.; Delgado, A.; Compain, P.
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on beta-glucocerebrosidase activity
Org. Biomol. Chem.
15
3681-3705
2017
Homo sapiens (P04062)
Limkul, J.; Iizuka, S.; Sato, Y.; Misaki, R.; Ohashi, T.; Ohashi, T.; Fujiyama, K.
The production of human glucocerebrosidase in glyco-engineered Nicotiana benthamiana plants
Plant Biotechnol. J.
14
1682-1694
2016
Homo sapiens (P04062), Homo sapiens
Zunke, F.; Andresen, L.; Wesseler, S.; Groth, J.; Arnold, P.; Rothaug, M.; Mazzulli, J.R.; Krainc, D.; Blanz, J.; Saftig, P.; Schwake, M.
Characterization of the complex formed by beta-glucocerebrosidase and the lysosomal integral membrane protein type-2
Proc. Natl. Acad. Sci. USA
113
3791-3796
2016
Homo sapiens (P04062)
de la Mata, M.; Cotan, D.; Oropesa-Avila, M.; Garrido-Maraver, J.; Cordero, M.D.; Villanueva Paz, M.; Delgado Pavon, A.; Alcocer-Gomez, E.; de Lavera, I.; Ybot-Gonzalez, P.; Paula Zaderenko, A.; Ortiz Mellet, C.; Garcia Fernandez, J.M.; Sanchez-Alcazar, J.A.
Pharmacological chaperones and coenzyme Q10 treatment improves mutant beta-glucocerebrosidase activity and mitochondrial function in neuronopathic forms of Gaucher disease
Sci. Rep.
5
10903
2015
Homo sapiens (P04062)
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