-
1
-
-
0027532181
-
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease
-
van Weely S., Brandsma M., Strijland A., Tager J.M., Aerts J.M. Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Biochim. Biophys. Acta 1993, 1181:55-62.
-
(1993)
Biochim. Biophys. Acta
, vol.1181
, pp. 55-62
-
-
van Weely, S.1
Brandsma, M.2
Strijland, A.3
Tager, J.M.4
Aerts, J.M.5
-
2
-
-
33846994522
-
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2
-
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. 2007, 282:1305-1312.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 1305-1312
-
-
Boot, R.G.1
Verhoek, M.2
Donker-Koopman, W.3
Strijland, A.4
van Marle, J.5
Overkleeft, H.S.6
Wennekes, T.7
Aerts, J.M.8
-
3
-
-
33750595463
-
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
-
Yildiz Y., Matern H., Thompson B., Allegood J.C., Warren R.L., Ramirez D.M., Hammer R.E., Hamra F.K., Matern S., Russell D.W. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J. Clin. Invest. 2006, 116:2985-2994.
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2985-2994
-
-
Yildiz, Y.1
Matern, H.2
Thompson, B.3
Allegood, J.C.4
Warren, R.L.5
Ramirez, D.M.6
Hammer, R.E.7
Hamra, F.K.8
Matern, S.9
Russell, D.W.10
-
4
-
-
0030941076
-
Purification and characterization of a microsomal bile acid beta-glucosidase from human liver
-
Matern H., Heinemann H., Legler G., Matern S. Purification and characterization of a microsomal bile acid beta-glucosidase from human liver. J. Biol. Chem. 1997, 272:11261-11267.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 11261-11267
-
-
Matern, H.1
Heinemann, H.2
Legler, G.3
Matern, S.4
-
5
-
-
0035851184
-
Molecular cloning and expression of human bile acid beta-glucosidase
-
Matern H., Boermans H., Lottspeich F., Matern S. Molecular cloning and expression of human bile acid beta-glucosidase. J. Biol. Chem. 2001, 276:37929-37933.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 37929-37933
-
-
Matern, H.1
Boermans, H.2
Lottspeich, F.3
Matern, S.4
-
6
-
-
0033916912
-
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation
-
Orvisky E., Sidransky E., McKinney C.E., Lamarca M.E., Samimi R., Krasnewich D., Martin B.M., Ginns E.I. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr. Res. 2000, 48:233-237.
-
(2000)
Pediatr. Res.
, vol.48
, pp. 233-237
-
-
Orvisky, E.1
Sidransky, E.2
McKinney, C.E.3
Lamarca, M.E.4
Samimi, R.5
Krasnewich, D.6
Martin, B.M.7
Ginns, E.I.8
-
7
-
-
36349016508
-
Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis
-
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. 2007, 282:32655-32664.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 32655-32664
-
-
Walden, C.M.1
Sandhoff, R.2
Chuang, C.C.3
Yildiz, Y.4
Butters, T.D.5
Dwek, R.A.6
Platt, F.M.7
van der Spoel, A.C.8
-
8
-
-
4444313668
-
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence
-
Felderhoff-Mueser U., Uhl J., Penzel R., Van Landeghem F., Vogel M., Obladen M., Kopitz J. Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. Am. J. Med. Genet. A 2004, 128A:138-143.
-
(2004)
Am. J. Med. Genet. A
, vol.128 A
, pp. 138-143
-
-
Felderhoff-Mueser, U.1
Uhl, J.2
Penzel, R.3
Van Landeghem, F.4
Vogel, M.5
Obladen, M.6
Kopitz, J.7
-
9
-
-
0029924546
-
Evaluation of isofagomine and its derivatives as potent glycosidase inhibitors
-
Dong W., Jespersen T., Bols M., Skrydstrup T., Sierks M.R. Evaluation of isofagomine and its derivatives as potent glycosidase inhibitors. Biochemistry 1996, 35:2788-2795.
-
(1996)
Biochemistry
, vol.35
, pp. 2788-2795
-
-
Dong, W.1
Jespersen, T.2
Bols, M.3
Skrydstrup, T.4
Sierks, M.R.5
-
10
-
-
33947376087
-
Selective action of the iminosugar isofagomine, a pharmacological chaperone for mutant forms of acid-beta-glucosidase
-
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. 2007, 73:1376-1383.
-
(2007)
Biochem. Pharmacol.
, vol.73
, pp. 1376-1383
-
-
Steet, R.1
Chung, S.2
Lee, W.S.3
Pine, C.W.4
Do, H.5
Kornfeld, S.6
-
11
-
-
77956289133
-
Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model
-
Xu Y.H., Sun Y., Barnes S., Grabowski G.A. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS ONE 2010, 5:e10750.
-
(2010)
PLoS ONE
, vol.5
-
-
Xu, Y.H.1
Sun, Y.2
Barnes, S.3
Grabowski, G.A.4
-
12
-
-
0019767939
-
Purification and characterization of a cytosolic broad specificity beta-glucosidase from human liver
-
Daniels L.B., Coyle P.J., Chiao Y.B., Glew R.H., Labow R.S. Purification and characterization of a cytosolic broad specificity beta-glucosidase from human liver. J. Biol. Chem. 1981, 256:13004-13013.
-
(1981)
J. Biol. Chem.
, vol.256
, pp. 13004-13013
-
-
Daniels, L.B.1
Coyle, P.J.2
Chiao, Y.B.3
Glew, R.H.4
Labow, R.S.5
-
13
-
-
0842276913
-
The enzymatic hydrolysis of 6-acylamino-4-methylumbelliferyl-beta-d-glucosides: identification of a novel human acid beta-glucosidase
-
Mikhaylova M., Wiederschain G., Mikhaylov V., Aerts J.M. The enzymatic hydrolysis of 6-acylamino-4-methylumbelliferyl-beta-d-glucosides: identification of a novel human acid beta-glucosidase. Biochim. Biophys. Acta 1996, 1317:71-79.
-
(1996)
Biochim. Biophys. Acta
, vol.1317
, pp. 71-79
-
-
Mikhaylova, M.1
Wiederschain, G.2
Mikhaylov, V.3
Aerts, J.M.4
-
14
-
-
35349019888
-
Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase
-
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. 2007, 282:30889-30900.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 30889-30900
-
-
Hayashi, Y.1
Okino, N.2
Kakuta, Y.3
Shikanai, T.4
Tani, M.5
Narimatsu, H.6
Ito, M.7
-
15
-
-
78650824268
-
The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation
-
Dekker N., Voorn-Brouwer T., Verhoek M., Wennekes T., Narayan R.S., Speijer D., Hollak C.E., Overkleeft H.S., Boot R.G., Aerts J.M. The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. Blood Cells Mol. Dis. 2011, 46:19-26.
-
(2011)
Blood Cells Mol. Dis.
, vol.46
, pp. 19-26
-
-
Dekker, N.1
Voorn-Brouwer, T.2
Verhoek, M.3
Wennekes, T.4
Narayan, R.S.5
Speijer, D.6
Hollak, C.E.7
Overkleeft, H.S.8
Boot, R.G.9
Aerts, J.M.10
-
16
-
-
0026443149
-
Beta-glucosidase activity towards a bile acid glucoside in human liver
-
Matern H., Gartzen R., Matern S. Beta-glucosidase activity towards a bile acid glucoside in human liver. FEBS Lett. 1992, 314:183-186.
-
(1992)
FEBS Lett.
, vol.314
, pp. 183-186
-
-
Matern, H.1
Gartzen, R.2
Matern, S.3
-
17
-
-
63149196645
-
Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation
-
Schulze H., Kolter T., Sandhoff K. Principles of lysosomal membrane degradation: Cellular topology and biochemistry of lysosomal lipid degradation. Biochim. Biophys. Acta 2009, 1793:674-683.
-
(2009)
Biochim. Biophys. Acta
, vol.1793
, pp. 674-683
-
-
Schulze, H.1
Kolter, T.2
Sandhoff, K.3
-
18
-
-
65449160933
-
Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications
-
Vithayathil J., Gibney G., Baxevanis A.D., Stubblefield B.K., Sidransky E., Tayebi N. Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications. Clin. Genet. 2009, 75:503-504.
-
(2009)
Clin. Genet.
, vol.75
, pp. 503-504
-
-
Vithayathil, J.1
Gibney, G.2
Baxevanis, A.D.3
Stubblefield, B.K.4
Sidransky, E.5
Tayebi, N.6
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