-
1
-
-
0001211738
-
Glucosylceramide lipidoses: Gaucher disease
-
Scriver CR, Beaudel AL, Sly WS, Volle D (eds) McGraw-Hill, New York
-
Beutler E, Grabowski GA 1995 Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudel AL, Sly WS, Volle D (eds) The Metabolic and Molecular Bases of Inherited Disease, Ed. 7. McGraw-Hill, New York, pp 2641-2670
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, Ed. 7
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
0020014944
-
The pathology of Gaucher disease
-
Lee RE 1982 The pathology of Gaucher disease. Prog Clin Biol Res 95:177-217
-
(1982)
Prog Clin Biol Res
, vol.95
, pp. 177-217
-
-
Lee, R.E.1
-
3
-
-
0026551007
-
Allogenic bone marrow transplantation in severe Gaucher disease
-
Tsai P, Lipton JM, Sahdev I, Najfeld V, Rankin LR, Slyper AH, Ludman MD, Grabowski GA 1992 Allogenic bone marrow transplantation in severe Gaucher disease. Pediatr Res 31:503-507
-
(1992)
Pediatr Res
, vol.31
, pp. 503-507
-
-
Tsai, P.1
Lipton, J.M.2
Sahdev, I.3
Najfeld, V.4
Rankin, L.R.5
Slyper, A.H.6
Ludman, M.D.7
Grabowski, G.A.8
-
4
-
-
0023627965
-
Regression of the radiological changes of Gaucher's disease following bone marrow transplantation
-
Starer F, Sargent JD, Hobbs JR 1987 Regression of the radiological changes of Gaucher's disease following bone marrow transplantation. Br J Radiol 60:1189-1195
-
(1987)
Br J Radiol
, vol.60
, pp. 1189-1195
-
-
Starer, F.1
Sargent, J.D.2
Hobbs, J.R.3
-
5
-
-
0023221342
-
Beneficial effect of pre-transplanl splenectomy on displacement bone marrow transplantation for Gaucher's syndrome
-
Hobbs JR, Jones KH, Shaw PJ, Lindsay I, Hancock M 1987 Beneficial effect of pre-transplanl splenectomy on displacement bone marrow transplantation for Gaucher's syndrome. Lancet 1:1111-1115
-
(1987)
Lancet
, vol.1
, pp. 1111-1115
-
-
Hobbs, J.R.1
Jones, K.H.2
Shaw, P.J.3
Lindsay, I.4
Hancock, M.5
-
6
-
-
0002776718
-
Bone marrow transplantation for storage diseases
-
Desnick RJ (ed) Churchill Livingstone, New York
-
Krivit W Shapiro EG 1991 Bone marrow transplantation for storage diseases. In: Desnick RJ (ed) Treatment of Genetic Diseases. Churchill Livingstone, New York, pp 203-221
-
(1991)
Treatment of Genetic Diseases
, pp. 203-221
-
-
Krivit, W.1
Shapiro, E.G.2
-
7
-
-
0022965971
-
The molecular biology of Gaucher disease and the potential for gene therapy
-
Choudary PV, Tsuji S, Martin BM, Guild BC, Mulligan RC, Murray GJ, Barranger JA, Ginns EI 1986 The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol 51:1047-1052
-
(1986)
Cold Spring Harb Symp Quant Biol
, vol.51
, pp. 1047-1052
-
-
Choudary, P.V.1
Tsuji, S.2
Martin, B.M.3
Guild, B.C.4
Mulligan, R.C.5
Murray, G.J.6
Barranger, J.A.7
Ginns, E.I.8
-
8
-
-
0026441148
-
Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector
-
Ohashi T, Boggs S, Robbins P, Bahnson A, Patrene K, Wei F-S, Wei J-F, Li J, Lucht L, Fei Y, Clark S, Kimak M, He H, Mowery-Rushton P, Barranger JA 1992 Efficient transfer and sustained high expression of the human glucocerebrosidase gene in mice and their functional macrophages following transplantation of bone marrow transduced by a retroviral vector. Proc Natl Acad Sci USA 89:11332-11336
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 11332-11336
-
-
Ohashi, T.1
Boggs, S.2
Robbins, P.3
Bahnson, A.4
Patrene, K.5
Wei, F.-S.6
Wei, J.-F.7
Li, J.8
Lucht, L.9
Fei, Y.10
Clark, S.11
Kimak, M.12
He, H.13
Mowery-Rushton, P.14
Barranger, J.A.15
-
9
-
-
0028351715
-
Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol
-
Xu L, Stahl SK, Dave HP, Schiffmann R, Correll PH, Kessler S, Karlsson S 1994 Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol. Exp Hematol 22:223-230
-
(1994)
Exp Hematol
, vol.22
, pp. 223-230
-
-
Xu, L.1
Stahl, S.K.2
Dave, H.P.3
Schiffmann, R.4
Correll, P.H.5
Kessler, S.6
Karlsson, S.7
-
10
-
-
0026779725
-
Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow
-
Nolta JA, Yu XJ, Bahner I, Kohn DB 1992 Retroviral-mediated transfer of the human glucocerebrosidase gene into cultured Gaucher bone marrow. J Clin Invest 90:342-348
-
(1992)
J Clin Invest
, vol.90
, pp. 342-348
-
-
Nolta, J.A.1
Yu, X.J.2
Bahner, I.3
Kohn, D.B.4
-
11
-
-
0344094038
-
Evidence for receptor-mediated binding of glycoproteins, glycoconjugales, and lysosomal glycosidases by alveolar macrophages
-
Stahl PD, Rodman JS, Miller MJ, Schlesinger PH 1978 Evidence for receptor-mediated binding of glycoproteins, glycoconjugales, and lysosomal glycosidases by alveolar macrophages. Proc Natl Acad Sci USA 75:1399-1403
-
(1978)
Proc Natl Acad Sci USA
, vol.75
, pp. 1399-1403
-
-
Stahl, P.D.1
Rodman, J.S.2
Miller, M.J.3
Schlesinger, P.H.4
-
12
-
-
0018170526
-
Human β-glucuronidase: In vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells
-
Achord DT, Brot FE, Bell CE, Sly WS 1978 Human β-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells. Cell 15:269-278
-
(1978)
Cell
, vol.15
, pp. 269-278
-
-
Achord, D.T.1
Brot, F.E.2
Bell, C.E.3
Sly, W.S.4
-
13
-
-
0019475525
-
Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation
-
Furbish FS, Steer CJ, Krett NL, Barranger JA 1981 Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation. Biochim Biophys Acta 673:425-435
-
(1981)
Biochim Biophys Acta
, vol.673
, pp. 425-435
-
-
Furbish, F.S.1
Steer, C.J.2
Krett, N.L.3
Barranger, J.A.4
-
14
-
-
0006465778
-
Molecular pathology and therapy of Gaucher disease
-
Barranger JA, Ohashi T, Hong CM, Tomich J, Aerts JFGM, Tager JM, Nolta JA, Sender LS, Weiler S, Kohn DB 1989 Molecular pathology and therapy of Gaucher disease. Jpn J Inherit Metab Dis 51:45-71
-
(1989)
Jpn J Inherit Metab Dis
, vol.51
, pp. 45-71
-
-
Barranger, J.A.1
Ohashi, T.2
Hong, C.M.3
Tomich, J.4
Aerts, J.F.G.M.5
Tager, J.M.6
Nolta, J.A.7
Sender, L.S.8
Weiler, S.9
Kohn, D.B.10
-
15
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NTW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE 1991 Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324:1464-1470
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.T.W.1
Brady, R.O.2
Dambrosia, J.M.3
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argoff, C.E.10
-
16
-
-
0026474627
-
A less costly regimen of alglucerase to treat Gaucher's disease
-
Figueroa ML, Rosenbloom BE, Kay A, Garver P, Thurston DW, Koziol JA, Gelbart T, Beutler E 1992 A less costly regimen of alglucerase to treat Gaucher's disease. N Engl J Med 327:1632-1636
-
(1992)
N Engl J Med
, vol.327
, pp. 1632-1636
-
-
Figueroa, M.L.1
Rosenbloom, B.E.2
Kay, A.3
Garver, P.4
Thurston, D.W.5
Koziol, J.A.6
Gelbart, T.7
Beutler, E.8
-
17
-
-
0026014938
-
Enzyme replacement therapy for Gaucher disease
-
Beutler E, Kay A, Saven A, Garver P, Thurston D, Dawson A, Rosenbloom B 1991 Enzyme replacement therapy for Gaucher disease. Blood 78:1183-1189
-
(1991)
Blood
, vol.78
, pp. 1183-1189
-
-
Beutler, E.1
Kay, A.2
Saven, A.3
Garver, P.4
Thurston, D.5
Dawson, A.6
Rosenbloom, B.7
-
18
-
-
0026508344
-
Enzyme augmentation in moderate to life-threatening Gaucher disease
-
Fallet S, Grace ME, Sibille A, Mendelson DS, Shapiro RS, Hermann G, Grabowski GA 1992 Enzyme augmentation in moderate to life-threatening Gaucher disease. Pediatr Res 31:496-502
-
(1992)
Pediatr Res
, vol.31
, pp. 496-502
-
-
Fallet, S.1
Grace, M.E.2
Sibille, A.3
Mendelson, D.S.4
Shapiro, R.S.5
Hermann, G.6
Grabowski, G.A.7
-
19
-
-
0027218354
-
Enzyme therapy in Gaucher disease type 1: Dosage efficacy and adverse effects in thirty-three patients treated for six to twenty-four months
-
Pastores G, Sibille A, Grabowski GA 1993 Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in thirty-three patients treated for six to twenty-four months. Blood 82:408-416
-
(1993)
Blood
, vol.82
, pp. 408-416
-
-
Pastores, G.1
Sibille, A.2
Grabowski, G.A.3
-
20
-
-
0028883136
-
Enzyme therapy in Gaucher disease type 1: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski GA, Barton NW, Pastores G, Banerjee TK, McKee A, Parker C, Schiffmann R, Dambrosia JM, Hill SC, Brady RO 1995 Enzyme therapy in Gaucher disease type 1: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122:33-39
-
(1995)
Ann Intern Med
, vol.122
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
Banerjee, T.K.4
McKee, A.5
Parker, C.6
Schiffmann, R.7
Dambrosia, J.M.8
Hill, S.C.9
Brady, R.O.10
-
21
-
-
0027318762
-
Binding, internalization and degradation of mannose-terminated glucocerebrosidase by macrophages
-
Sato Y, Beutler E 1993 Binding, internalization and degradation of mannose-terminated glucocerebrosidase by macrophages. J Clin Invest 91:1909-1917
-
(1993)
J Clin Invest
, vol.91
, pp. 1909-1917
-
-
Sato, Y.1
Beutler, E.2
-
22
-
-
0029135190
-
Pathologic findings in Gaucher disease type 2 patients following enzyme therapy
-
Bove K, Daughtery C, Grabowski GA 1995 Pathologic findings in Gaucher disease type 2 patients following enzyme therapy. Hum Pathol 26:1040-1045
-
(1995)
Hum Pathol
, vol.26
, pp. 1040-1045
-
-
Bove, K.1
Daughtery, C.2
Grabowski, G.A.3
-
23
-
-
0028157443
-
Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
-
Grace ME, Newman KM, Scheinker V, He G-S, Berg-Fussman A, Grabowski GA 1994 Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 269:2283-2291
-
(1994)
J Biol Chem
, vol.269
, pp. 2283-2291
-
-
Grace, M.E.1
Newman, K.M.2
Scheinker, V.3
He, G.-S.4
Berg-Fussman, A.5
Grabowski, G.A.6
-
25
-
-
0023158587
-
Gaucher disease: Genetic heterogeneity within and among the subtypes detected by immunoblotting
-
Fabbro D, Desnick RJ, Grabowski GA 1987 Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 40:15-31
-
(1987)
Am J Hum Genet
, vol.40
, pp. 15-31
-
-
Fabbro, D.1
Desnick, R.J.2
Grabowski, G.A.3
-
26
-
-
0025824346
-
Human acid β-glucosidase: Use of inhibitory and activating monoclonal antibodies to investigate the enzyme's catalytic mechanism and saposin A and C binding sites
-
Fabbro D, Grabowski GA 1991 Human acid β-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)
J Biol Chem
, vol.266
, pp. 15021-15027
-
-
Fabbro, D.1
Grabowski, G.A.2
-
27
-
-
0028963381
-
Immunoelectron-microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells
-
Murray GJ, Jin F-S 1995 Immunoelectron-microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells. J Histochem Cytochem 43:149-158
-
(1995)
J Histochem Cytochem
, vol.43
, pp. 149-158
-
-
Murray, G.J.1
Jin, F.-S.2
-
28
-
-
0028870426
-
Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes
-
Murray GJ, Oliver KL, Jin F-S, Brady RO 1996 Studies on the turnover of exogenous mannose-terminal glucocerebrosidase in rat liver lysosomes. J Cell Biochem 57:208-217
-
(1996)
J Cell Biochem
, vol.57
, pp. 208-217
-
-
Murray, G.J.1
Oliver, K.L.2
Jin, F.-S.3
Brady, R.O.4
-
30
-
-
0026601704
-
Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease
-
Barton NW, Brady RO, Dambrosia JM, Doppelt SH, Hill SC, Holder CA, Mankin HJ, Murray GJ, Zirzow GC, Parker RI 1992 Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. J Pediatr 120:277-280
-
(1992)
J Pediatr
, vol.120
, pp. 277-280
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
Doppelt, S.H.4
Hill, S.C.5
Holder, C.A.6
Mankin, H.J.7
Murray, G.J.8
Zirzow, G.C.9
Parker, R.I.10
-
31
-
-
0024542617
-
Posttranslational processing of human lysosomal acid β-glucosidase: A continuum of defects in Gaucher disease type 1 and type 2 fibroblasts
-
Bergmann JE, Grabowski GA 1989 Posttranslational processing of human lysosomal acid β-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts. Am J Hum Genet 44:741-750
-
(1989)
Am J Hum Genet
, vol.44
, pp. 741-750
-
-
Bergmann, J.E.1
Grabowski, G.A.2
-
32
-
-
0023099774
-
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts
-
Jonsson LM, Murray GJ, Sorrell SH, Strijland A, Aerts JF, Ginns EI, Barranger JA, Tager JM, Schram AW 1987 Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem 164:171-179
-
(1987)
Eur J Biochem
, vol.164
, pp. 171-179
-
-
Jonsson, L.M.1
Murray, G.J.2
Sorrell, S.H.3
Strijland, A.4
Aerts, J.F.5
Ginns, E.I.6
Barranger, J.A.7
Tager, J.M.8
Schram, A.W.9
-
33
-
-
0025992004
-
Gaucher disease: Heterologous expression of two alleles associated with neuronopathic phenotypes
-
Grace ME, Berg A, He GS, Goldberg L, Horowitz M, Grabowski GA 1991 Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. Am J Hum Genet 49:646-655
-
(1991)
Am J Hum Genet
, vol.49
, pp. 646-655
-
-
Grace, M.E.1
Berg, A.2
He, G.S.3
Goldberg, L.4
Horowitz, M.5
Grabowski, G.A.6
-
34
-
-
0025246148
-
Analyses of catalytic activity and inhibitor binding of human acid β-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations
-
Grace ME, Graves PN, Smith FI, Grabowski GA 1990 Analyses of catalytic activity and inhibitor binding of human acid β-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)
J Biol Chem
, vol.265
, pp. 6827-6835
-
-
Grace, M.E.1
Graves, P.N.2
Smith, F.I.3
Grabowski, G.A.4
-
35
-
-
0028366092
-
Functional human saposins expressed in Escherichia coli: Evidence for binding and activation properties of saposin C with acid β-glucosidase
-
Qi X, Leonova T, Grabowski GA 1994 Functional human saposins expressed in Escherichia coli: evidence for binding and activation properties of saposin C with acid β-glucosidase. J Biol Chem 269:16746-16753
-
(1994)
J Biol Chem
, vol.269
, pp. 16746-16753
-
-
Qi, X.1
Leonova, T.2
Grabowski, G.A.3
-
36
-
-
0018634472
-
An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver
-
Hubbard AL, Wilson G, Ashwell G, Stukenbrok H 1979 An electron microscope autoradiographic study of the carbohydrate recognition systems in rat liver. J Cell Biol 83:47-64
-
(1979)
J Cell Biol
, vol.83
, pp. 47-64
-
-
Hubbard, A.L.1
Wilson, G.2
Ashwell, G.3
Stukenbrok, H.4
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