-
1
-
-
0025236339
-
Therapeutic response to intravenous infusion of glucocerebrosidase in a patient with Gaucher disease
-
Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous infusion of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87:1913-1916
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1913-1916
-
-
Barton, N.W.1
Furbish, F.S.2
Murray, G.J.3
Garfield, M.4
Brady, R.O.5
-
2
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher disease
-
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu KT (1991) Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher disease. N Engl J Med 324:1464-1470
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.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
Grewal, R.P.11
Yu, K.T.12
-
3
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
-
Beutler E, Grabowski GA (2001) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3635-3668
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease, 8th Edn.
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
5
-
-
0013927537
-
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
-
Brady RO, Kanfer JN, Bradley RM, Shapiro D (1966) Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 45:1112-1115
-
(1966)
J Clin Invest
, vol.45
, pp. 1112-1115
-
-
Brady, R.O.1
Kanfer, J.N.2
Bradley, R.M.3
Shapiro, D.4
-
8
-
-
0034728914
-
Novel oral treatment of Gaucher disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, Platt F, Butters T, Dwek R, Moyses C, Gow I, Elstein D, Zimran AT (2000) Novel oral treatment of Gaucher disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355:1481-1485
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
Platt, F.7
Butters, T.8
Dwek, R.9
Moyses, C.10
Gow, I.11
Elstein, D.12
Zimran, A.T.13
-
9
-
-
0024364949
-
Mannose 6-phosphate receptors and lysosomal enzyme targeting
-
Dahms NM, Lobel P, Kornfeld S (1989) Mannose 6-phosphate receptors and lysosomal enzyme targeting. J Biol Chem 264:12115-12118
-
(1989)
J Biol Chem
, vol.264
, pp. 12115-12118
-
-
Dahms, N.M.1
Lobel, P.2
Kornfeld, S.3
-
10
-
-
0019941616
-
Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase
-
Doebber TW, Wu MS, Bugianesi RL, Ponpipom MM, Furbish FS, Barranger JA, Brady RO, Shen TY (1982) Enhanced macrophage uptake of synthetically glycosylated human placental beta-glucocerebrosidase. J Biol Chem 257:2193-2199
-
(1982)
J Biol Chem
, vol.257
, pp. 2193-2199
-
-
Doebber, T.W.1
Wu, M.S.2
Bugianesi, R.L.3
Ponpipom, M.M.4
Furbish, F.S.5
Barranger, J.A.6
Brady, R.O.7
Shen, T.Y.8
-
11
-
-
17944388584
-
An oral vaccine against NMDAR1 with efficacy in experimental stroke and epilepsy
-
During MJ, Symes CW, Lawlor PA, Lin J, Dunning J, Fitzsimons HL, Poulsen D, Leone P, Xu R, Dicker BL, Lipski J, Young D (2000) An oral vaccine against NMDAR1 with efficacy in experimental stroke and epilepsy. Science 287:1453-1460
-
(2000)
Science
, vol.287
, pp. 1453-1460
-
-
During, M.J.1
Symes, C.W.2
Lawlor, P.A.3
Lin, J.4
Dunning, J.5
Fitzsimons, H.L.6
Poulsen, D.7
Leone, P.8
Xu, R.9
Dicker, B.L.10
Lipski, J.11
Young, D.12
-
12
-
-
0022386744
-
Biosynthesis of the lysosomal enzyme glucocerebrosidase
-
Erickson AH, Ginns EI, Barranger JA (1985) Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 260:14319-14324
-
(1985)
J Biol Chem
, vol.260
, pp. 14319-14324
-
-
Erickson, A.H.1
Ginns, E.I.2
Barranger, J.A.3
-
13
-
-
0022555844
-
Lysosomal enzymes and their receptors
-
von Figura K, Hasilik A (1986) Lysosomal enzymes and their receptors. Annu Rev Biochem 55:167-193
-
(1986)
Annu Rev Biochem
, vol.55
, pp. 167-193
-
-
Von Figura, K.1
Hasilik, A.2
-
14
-
-
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 673:425-434
-
(1981)
Biochim Biophys Acta
, vol.673
, pp. 425-434
-
-
Furbish, F.S.1
Steer, C.J.2
Krett, N.L.3
Barranger, J.A.4
-
15
-
-
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, Dambrosia JM, Banerjee TK, Mckee MA, Parker C, Schiffmann R, 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
Dambrosia, J.M.4
Banerjee, T.K.5
Mckee, M.A.6
Parker, C.7
Schiffmann, R.8
Hill, S.C.9
Brady, R.O.10
-
16
-
-
17444387438
-
Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector
-
Herzog RW, Yang EY, Couto LB, Hagstrom JN, Elwell D, Fields PA, Burton M, Bellinger DA, Read MS, Brinkhous KM, Podsakoff GM, Nichols TC, Kurtzman GJ, High KA (1999) Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. Nat Med 5:56-63
-
(1999)
Nat Med
, vol.5
, pp. 56-63
-
-
Herzog, R.W.1
Yang, E.Y.2
Couto, L.B.3
Hagstrom, J.N.4
Elwell, D.5
Fields, P.A.6
Burton, M.7
Bellinger, D.A.8
Read, M.S.9
Brinkhous, K.M.10
Podsakoff, G.M.11
Nichols, T.C.12
Kurtzman, G.J.13
High, K.A.14
-
17
-
-
0035956882
-
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice
-
Jung SC, Han IP, Limaye A, Xu R, Gelderman MP, Zerfas P, Tirumalai K, Murray GJ, During MJ, Brady RO, Qasba P (2001) Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci USA 98:2676-2681
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 2676-2681
-
-
Jung, S.C.1
Han, I.P.2
Limaye, A.3
Xu, R.4
Gelderman, M.P.5
Zerfas, P.6
Tirumalai, K.7
Murray, G.J.8
During, M.J.9
Brady, R.O.10
Qasba, P.11
-
18
-
-
2142713043
-
Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: Implications for gene therapy of Gaucher disease
-
Kim EY, Hong YB, Lai Z, Kim HJ, Cho YH, Brady RO, Jung SC (2004) 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)
Biochem Biophys Res Commun
, vol.318
, pp. 381-390
-
-
Kim, E.Y.1
Hong, Y.B.2
Lai, Z.3
Kim, H.J.4
Cho, Y.H.5
Brady, R.O.6
Jung, S.C.7
-
20
-
-
0032478309
-
Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (SIMP)
-
Liu Y, Suzuki K, Reed JD, Grinberg A, Westphal H, Hoffmann A, Döring T, Sandhoff K, Proia RL (1998) Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure (SIMP). Proc Natl Acad Sci USA 95:2503-2508
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 2503-2508
-
-
Liu, Y.1
Suzuki, K.2
Reed, J.D.3
Grinberg, A.4
Westphal, H.5
Hoffmann, A.6
Döring, T.7
Sandhoff, K.8
Proia, R.L.9
-
21
-
-
0036664865
-
Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model
-
Marshall J, McEachern KA, Cavanagh JA, Nietupski JB, Budzinski TL, Ziegler RJ, Yew NS, Sullivan J, Scaria A, Rooijen N, Barranger JA, Cheng SH (2002) Demonstration of feasibility of in vivo gene therapy for Gaucher disease using a chemically induced mouse model. Mol Ther 6:179-189
-
(2002)
Mol Ther
, vol.6
, pp. 179-189
-
-
Marshall, J.1
McEachern, K.A.2
Cavanagh, J.A.3
Nietupski, J.B.4
Budzinski, T.L.5
Ziegler, R.J.6
Yew, N.S.7
Sullivan, J.8
Scaria, A.9
Rooijen, N.10
Barranger, J.A.11
Cheng, S.H.12
-
22
-
-
0033814178
-
Recruitment of single-stranded recombinant adeno-associated virus vector genomes and intermolecular recombination are responsible for stable transduction of liver in vivo
-
Nakai H, Storm TA, Kay MA (2000) Recruitment of single-stranded recombinant adeno-associated virus vector genomes and intermolecular recombination are responsible for stable transduction of liver in vivo. J Virol 74:9451-9463
-
(2000)
J Virol
, vol.74
, pp. 9451-9463
-
-
Nakai, H.1
Storm, T.A.2
Kay, M.A.3
-
23
-
-
0034960344
-
Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo
-
Nakai H, Yant SR, Storm TA, Fuess S, Meuse L, Kay MA (2001) Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J Virol 75:6969-6976
-
(2001)
J Virol
, vol.75
, pp. 6969-6976
-
-
Nakai, H.1
Yant, S.R.2
Storm, T.A.3
Fuess, S.4
Meuse, L.5
Kay, M.A.6
-
24
-
-
0038054338
-
AAV serotype 2 vectors preferentially integrate into active genes in mice
-
Nakai H, Montini E, Fuess S, Storm TA, Grompe M, Kay MA (2003) AAV serotype 2 vectors preferentially integrate into active genes in mice. Nat Genet 34:297-302
-
(2003)
Nat Genet
, vol.34
, pp. 297-302
-
-
Nakai, H.1
Montini, E.2
Fuess, S.3
Storm, T.A.4
Grompe, M.5
Kay, M.A.6
-
25
-
-
0025826050
-
Lysosomal storage diseases
-
Neufeld EF (1991) Lysosomal storage diseases. Annu Rev Biochem 60:257-280
-
(1991)
Annu Rev Biochem
, vol.60
, pp. 257-280
-
-
Neufeld, E.F.1
-
27
-
-
0028921786
-
Ten years' experience of bone marrow transplantation for Gaucher disease
-
Ringdén O, Groth CG, Erikson A, Granqvist S, Månsson JE, Sparrelid E (1995) Ten years' experience of bone marrow transplantation for Gaucher disease. Transplantation 59:864-870
-
(1995)
Transplantation
, vol.59
, pp. 864-870
-
-
Ringdén, O.1
Groth, C.G.2
Erikson, A.3
Granqvist, S.4
Månsson, J.E.5
Sparrelid, E.6
-
28
-
-
0024311525
-
Helper-free stocks of recombinant adeno-associated viruses: Normal integration does not require viral gene expression
-
Samulski RJ, Chang LS, Shenk T (1989) Helper-free stocks of recombinant adeno-associated viruses: normal integration does not require viral gene expression. J Virol 63:3822-3828
-
(1989)
J Virol
, vol.63
, pp. 3822-3828
-
-
Samulski, R.J.1
Chang, L.S.2
Shenk, T.3
-
29
-
-
0842264039
-
Total correction of hemophilia a mice with canine FVIII using an AAV 8 serotype
-
Sarkar R, Tetreault R, Gao G, Wang L, Bell P, Chandler R, Wilson JM, Kazazian HH Jr (2004) Total correction of hemophilia A mice with canine FVIII using an AAV 8 serotype. Blood 103:1253-1260
-
(2004)
Blood
, vol.103
, pp. 1253-1260
-
-
Sarkar, R.1
Tetreault, R.2
Gao, G.3
Wang, L.4
Bell, P.5
Chandler, R.6
Wilson, J.M.7
Kazazian Jr., H.H.8
-
30
-
-
0021164336
-
Structure of the TV-asparagine-linked oligosaccharide units of human placental beta-glucocerebrosidase
-
Takasaki S, Murray GJ, Furbish FS, Brady RO, Barranger JA, Kobata A (1984) Structure of the TV-asparagine-linked oligosaccharide units of human placental beta-glucocerebrosidase. J Biol Chem 259:10112-10117
-
(1984)
J Biol Chem
, vol.259
, pp. 10112-10117
-
-
Takasaki, S.1
Murray, G.J.2
Furbish, F.S.3
Brady, R.O.4
Barranger, J.A.5
Kobata, A.6
-
31
-
-
0026778029
-
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
-
Tybulewiez VLJ, Trembly ML, LaMarea ME, Willemsen P, Stubblefield BK, Winfield S, Zablocka B, Sidransky E, Martin BM, Huang SP, Mintzer KN, Westphal H, Mulligan RO, Ginns EI (1992) Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357:407-410
-
(1992)
Nature
, vol.357
, pp. 407-410
-
-
Tybulewiez, V.L.J.1
Trembly, M.L.2
LaMarea, M.E.3
Willemsen, P.4
Stubblefield, B.K.5
Winfield, S.6
Zablocka, B.7
Sidransky, E.8
Martin, B.M.9
Huang, S.P.10
Mintzer, K.N.11
Westphal, H.12
Mulligan, R.O.13
Ginns, E.I.14
-
32
-
-
0037097043
-
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentivirus vector-mediated gene transfer
-
Villani GRD, Follenzi A, Vanacore B, Domenico CD, Naldini L, Natale PD (2002) Correction of mucopolysaccharidosis type IIIb fibroblasts by lentivirus vector-mediated gene transfer. Biochem J 364:747-753
-
(2002)
Biochem J
, vol.364
, pp. 747-753
-
-
Villani, G.R.D.1
Follenzi, A.2
Vanacore, B.3
Domenico, C.D.4
Naldini, L.5
Natale, P.D.6
-
33
-
-
0034610364
-
Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model
-
Wang B, Li J, Xiao X (2000) Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model. Proc Natl Acad Sci USA 97:13714-13719
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13714-13719
-
-
Wang, B.1
Li, J.2
Xiao, X.3
-
34
-
-
0142244182
-
Viable mouse models of acid beta-glucosidase deficiency: The defect in Gaucher disease
-
Xu YH, Quinn B, Witte D, Grabowski GA (2003) Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. Am J Pathol 163:2093-2101
-
(2003)
Am J Pathol
, vol.163
, pp. 2093-2101
-
-
Xu, Y.H.1
Quinn, B.2
Witte, D.3
Grabowski, G.A.4
|