-
1
-
-
0000216808
-
-
Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds), McGraw-Hill, New York
-
Beutler E., and Grabowski G.A. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease III (2001), McGraw-Hill, New York 3635-3668
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease III
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
50549198437
-
Metabolism of glucocerebrosidase: II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady R.O., Kanfer J.N., and Shapiro D. Metabolism of glucocerebrosidase: II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun. 18 (1965) 221-225
-
(1965)
Biochem. Biophys. Res. Commun.
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
3
-
-
0041331590
-
Phenotypic continuum in neuropathic Gaucher disease: An intermediate phenotype between type 2 and type 3
-
Goker-Alpan O., Schiffmann R., Park J.K., Stubblefield B.K., Tayebi N., and Sidransky E. Phenotypic continuum in neuropathic Gaucher disease: An intermediate phenotype between type 2 and type 3. J. Pediatr. 143 (2003) 273-276
-
(2003)
J. Pediatr.
, vol.143
, pp. 273-276
-
-
Goker-Alpan, O.1
Schiffmann, R.2
Park, J.K.3
Stubblefield, B.K.4
Tayebi, N.5
Sidransky, E.6
-
4
-
-
0017869494
-
Sphingolipidoses
-
Brady R.O. Sphingolipidoses. Annu. Rev. Biochem. 47 (1978) 687-713
-
(1978)
Annu. Rev. Biochem.
, vol.47
, pp. 687-713
-
-
Brady, R.O.1
-
5
-
-
0028157443
-
Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace M.E., Newman K.M., Scheinker V., Berg-Fussman A., and Grabowski G.A. Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J. Biol. Chem. 269 (1994) 2283-2291
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
Berg-Fussman, A.4
Grabowski, G.A.5
-
6
-
-
33750595463
-
Mutation of β-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.O., Hammer R.E., Hamra F.K., Matern S., and Russell D.W. Mutation of β-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J. Clin. Invest. 116 (2006) 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.O.6
Hammer, R.E.7
Hamra, F.K.8
Matern, S.9
Russell, D.W.10
-
7
-
-
33846994522
-
Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2
-
Boot R.G., Vierhoek M., Donker-Koopman W., Strijland A., van Marle J., Overkleeft H.S., Wennekes T., and Aerts J.M.F.G. Identification of the non-lysosomal glucosylceramidase as β-glucosidase 2. J. Biol. Chem. 282 (2006) 1305-1312
-
(2006)
J. Biol. Chem.
, vol.282
, pp. 1305-1312
-
-
Boot, R.G.1
Vierhoek, M.2
Donker-Koopman, W.3
Strijland, A.4
van Marle, J.5
Overkleeft, H.S.6
Wennekes, T.7
Aerts, J.M.F.G.8
-
8
-
-
35349019888
-
Klotho-related protein is a novel cytosolic neutral β-glycosylceramidase
-
Hayashi Y., Okino N., Kakuta Y., Shikanai T., Tani M., Narimatsu H., and Ito M. Klotho-related protein is a novel cytosolic neutral β-glycosylceramidase. J. Biol. Chem. 282 (2007) 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
-
9
-
-
0014404988
-
Identity of β-glucosidase, β-xylosidase, and one of the β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-d-glycosides: Studies in cases of Gaucher's disease
-
Ockerman P.A. Identity of β-glucosidase, β-xylosidase, and one of the β-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-β-d-glycosides: Studies in cases of Gaucher's disease. Biochim. Biophys. Acta 165 (1968) 59-62
-
(1968)
Biochim. Biophys. Acta
, vol.165
, pp. 59-62
-
-
Ockerman, P.A.1
-
10
-
-
0014957450
-
Detection of the defect of Gaucher's disease and its carrier states in peripheral blood leukocytes
-
Beutler E., and Kuhl W. Detection of the defect of Gaucher's disease and its carrier states in peripheral blood leukocytes. Lancet 1 (1970) 612-613
-
(1970)
Lancet
, vol.1
, pp. 612-613
-
-
Beutler, E.1
Kuhl, W.2
-
11
-
-
5644246312
-
Measurement of lysosomal glucocerebrosidase activity in mouse liver using a fluorescence-activated cell sorter assay
-
Chan K.W., Waire J., Simons B., Karey K., Fung J., Copeland D., and Andrews L. Measurement of lysosomal glucocerebrosidase activity in mouse liver using a fluorescence-activated cell sorter assay. Anal. Biochem. 334 (2004) 227-233
-
(2004)
Anal. Biochem.
, vol.334
, pp. 227-233
-
-
Chan, K.W.1
Waire, J.2
Simons, B.3
Karey, K.4
Fung, J.5
Copeland, D.6
Andrews, L.7
-
12
-
-
25444458618
-
A sensitive and reproducible assay to measure the activity of glucosylceramide synthase and lactosylceramide synthase using HPLC and fluorescent substrates
-
Hayashi Y., Horibata Y., Sakaguchi K., Okino N., and Ito M. A sensitive and reproducible assay to measure the activity of glucosylceramide synthase and lactosylceramide synthase using HPLC and fluorescent substrates. Anal. Biochem. 345 (2005) 181-186
-
(2005)
Anal. Biochem.
, vol.345
, pp. 181-186
-
-
Hayashi, Y.1
Horibata, Y.2
Sakaguchi, K.3
Okino, N.4
Ito, M.5
-
13
-
-
0022186670
-
Measurement of protein using bicinchoninic acid
-
Smith P.K., Krohrn R.I., Hermanson G.T., Maliia A.K., Gartner F.H., Provenzano M.D., Fujimoto E.K., Goeke N.M., Olson B.J., and Klenk D.C. Measurement of protein using bicinchoninic acid. Anal. Biochem. 150 (1985) 76-85
-
(1985)
Anal. Biochem.
, vol.150
, pp. 76-85
-
-
Smith, P.K.1
Krohrn, R.I.2
Hermanson, G.T.3
Maliia, A.K.4
Gartner, F.H.5
Provenzano, M.D.6
Fujimoto, E.K.7
Goeke, N.M.8
Olson, B.J.9
Klenk, D.C.10
-
14
-
-
3242762183
-
N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: A potential chemical chaperone therapy for Gaucher disease
-
Lin H., Sugimoto Y., Ohsaki Y., Ninomiya H., Oka A., Taniguchi M., Ida H., Eto Y., Ogawa S., Matsuzaki Y., Sawa M., Inoue T., Higaki K., Nanba E., Ohno K., and Suzuki Y. N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: A potential chemical chaperone therapy for Gaucher disease. Biochim. Biophys. Acta 1689 (2004) 219-228
-
(2004)
Biochim. Biophys. Acta
, vol.1689
, 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
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