-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds), McGraw Hill, NY
-
Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eightth ed. (2001), McGraw Hill, NY
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. eightth ed.
-
-
Neufeld, E.F.1
Muenzer, J.2
-
3
-
-
33750079559
-
Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors
-
Sly W.S., Vogler C., Grubb J.H., Levy B., Galvin N., Tan Y., Nishioka T., and Tomatsu S. Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors. Proc. Natl. Acad. Sci. USA 103 (2006) 15172-15177
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 15172-15177
-
-
Sly, W.S.1
Vogler, C.2
Grubb, J.H.3
Levy, B.4
Galvin, N.5
Tan, Y.6
Nishioka, T.7
Tomatsu, S.8
-
4
-
-
29944443176
-
Enzyme replacement therapies for lysosomal storage disorders
-
Germain D.P. Enzyme replacement therapies for lysosomal storage disorders. Med. Sci. 21 (2005) 77-83
-
(2005)
Med. Sci.
, vol.21
, pp. 77-83
-
-
Germain, D.P.1
-
5
-
-
0029146242
-
Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation
-
Shapiro E.G., Lockman L.A., Balthazor M., and Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J. Inherit. Metab. Dis. 18 (1995) 413
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 413
-
-
Shapiro, E.G.1
Lockman, L.A.2
Balthazor, M.3
Krivit, W.4
-
7
-
-
4344630950
-
Developmentally regulated mannose 6-phosphate receptor mediated transport of a lysosomal enzyme across the blood brain barrier
-
Urayama A., Grubb J.H., Sly W.S., and Banks W.A. Developmentally regulated mannose 6-phosphate receptor mediated transport of a lysosomal enzyme across the blood brain barrier. Proc. Natl. Acad. Sci. USA 101 (2004) 12658-12663
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 12658-12663
-
-
Urayama, A.1
Grubb, J.H.2
Sly, W.S.3
Banks, W.A.4
-
8
-
-
26844534412
-
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII
-
Vogler C., Levy B., Grubb J.H., Galvin N., Tan Y., Kakkis E., Pavloff N., and Sly W.S. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 102 (2005) 14777-14782
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 14777-14782
-
-
Vogler, C.1
Levy, B.2
Grubb, J.H.3
Galvin, N.4
Tan, Y.5
Kakkis, E.6
Pavloff, N.7
Sly, W.S.8
-
9
-
-
4043174204
-
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB
-
Zheng Y., Ryazantsev S., Ohmi K., Zhao H.Z., Rozengurt N., Kohn D.B., and Neufeld E.F. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol. Genet. Metab. 82 (2004) 286-295
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 286-295
-
-
Zheng, Y.1
Ryazantsev, S.2
Ohmi, K.3
Zhao, H.Z.4
Rozengurt, N.5
Kohn, D.B.6
Neufeld, E.F.7
-
10
-
-
35548941400
-
Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
-
Fraldi A., Hemsley K., Crawley A., Lombardi A., Lau A., Sutherland L., Auricchio A., Ballabio A., and Hopwood J. Functional correction of CNS lesions in a MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum. Mol. Genet. 16 (2007) 2693-2702
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2693-2702
-
-
Fraldi, A.1
Hemsley, K.2
Crawley, A.3
Lombardi, A.4
Lau, A.5
Sutherland, L.6
Auricchio, A.7
Ballabio, A.8
Hopwood, J.9
-
11
-
-
0036953575
-
Lentiviruses in gene therapy clinical research
-
Connolly J.B. Lentiviruses in gene therapy clinical research. Gene Ther. 9 (2002) 1730-1734
-
(2002)
Gene Ther.
, vol.9
, pp. 1730-1734
-
-
Connolly, J.B.1
-
12
-
-
33846873893
-
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA
-
Anson D.S., McIntyre C., Thomas B., Koldej R., Ranieri E., Roberts A., Clements P., Dunning K., and Byers S. Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA. Genet. Vaccines Ther. 5 (2007)
-
(2007)
Genet. Vaccines Ther.
, vol.5
-
-
Anson, D.S.1
McIntyre, C.2
Thomas, B.3
Koldej, R.4
Ranieri, E.5
Roberts, A.6
Clements, P.7
Dunning, K.8
Byers, S.9
-
13
-
-
17144465111
-
A mouse model for mucopolysaccharidosis type IIIA (Sanfilippo syndrome)
-
Bhaumik M., Muller V.J., Rozaklis T., Johnson L., Dobrenis K., Bhattacharyya R., Wurzelmann S., Finamore P., Hopwood J.J., Walkley S.U., and Stanley P.A. A mouse model for mucopolysaccharidosis type IIIA (Sanfilippo syndrome). Glycobiology 9 (1999) 1389-1396
-
(1999)
Glycobiology
, vol.9
, pp. 1389-1396
-
-
Bhaumik, M.1
Muller, V.J.2
Rozaklis, T.3
Johnson, L.4
Dobrenis, K.5
Bhattacharyya, R.6
Wurzelmann, S.7
Finamore, P.8
Hopwood, J.J.9
Walkley, S.U.10
Stanley, P.A.11
-
14
-
-
0020030423
-
Diagnosis of Sanfilippo A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate
-
Hopwood J.J., and Elliott H. Diagnosis of Sanfilippo A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Clin. Chim. Acta 123 (1982) 241-250
-
(1982)
Clin. Chim. Acta
, vol.123
, pp. 241-250
-
-
Hopwood, J.J.1
Elliott, H.2
-
15
-
-
78651115215
-
Studies on glucosaminidase 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase
-
Leaback D.H., and Walker P.G. Studies on glucosaminidase 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase. Biochem. J. 78 (1961) 151-156
-
(1961)
Biochem. J.
, vol.78
, pp. 151-156
-
-
Leaback, D.H.1
Walker, P.G.2
-
16
-
-
0015858165
-
New method for quantitative determination of uronic acids
-
Blumenkrantz N., and Asboe-Hansen G. New method for quantitative determination of uronic acids. Anal. Biochem. 54 (1973) 484-489
-
(1973)
Anal. Biochem.
, vol.54
, pp. 484-489
-
-
Blumenkrantz, N.1
Asboe-Hansen, G.2
-
17
-
-
4544279930
-
Disease-specific markers for the mucopolysaccharidoses
-
Fuller M., Rozaklis T., Ramsay S.L., Hopwood J.J., and Meikle P.J. Disease-specific markers for the mucopolysaccharidoses. Pediatr. Res. 56 (2004) 733-738
-
(2004)
Pediatr. Res.
, vol.56
, pp. 733-738
-
-
Fuller, M.1
Rozaklis, T.2
Ramsay, S.L.3
Hopwood, J.J.4
Meikle, P.J.5
-
18
-
-
4444229470
-
Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse
-
Sferra T.J., Backstrom K., Wang C., Rennard R., Miller M., and Hu Y. Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse. Mol. Ther. 10 (2004) 478-491
-
(2004)
Mol. Ther.
, vol.10
, pp. 478-491
-
-
Sferra, T.J.1
Backstrom, K.2
Wang, C.3
Rennard, R.4
Miller, M.5
Hu, Y.6
-
19
-
-
0036171327
-
Efficient delivery and targeted expression to hepatocytes in vivo by improved lentiviral vectors
-
Follenzi A., Sabatino G., Lombardo A., Boccaccino C., and Naldini L. Efficient delivery and targeted expression to hepatocytes in vivo by improved lentiviral vectors. Hum. Gene Ther. 13 (2002) 243-260
-
(2002)
Hum. Gene Ther.
, vol.13
, pp. 243-260
-
-
Follenzi, A.1
Sabatino, G.2
Lombardo, A.3
Boccaccino, C.4
Naldini, L.5
-
20
-
-
0036665573
-
Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow
-
Pan D., Gunther R., Duan W., Wendell S., Kaemmerer W., Kafri T., Verma I.M., and Whitley C.B. Biodistribution and toxicity studies of VSVG-pseudotyped lentiviral vector after intravenous administration in mice with the observation of in vivo transduction of bone marrow. Mol. Ther. 6 (2002) 19-29
-
(2002)
Mol. Ther.
, vol.6
, pp. 19-29
-
-
Pan, D.1
Gunther, R.2
Duan, W.3
Wendell, S.4
Kaemmerer, W.5
Kafri, T.6
Verma, I.M.7
Whitley, C.B.8
-
21
-
-
34247137829
-
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies
-
Fraldi A., Biffi A., Lombardi A., Visigalli I., Pepe S., Settembre C., Nusco E., Auricchio A., Naldini L., Ballabio A., and Cosma MP. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem. J. 403 (2007) 305-312
-
(2007)
Biochem. J.
, vol.403
, pp. 305-312
-
-
Fraldi, A.1
Biffi, A.2
Lombardi, A.3
Visigalli, I.4
Pepe, S.5
Settembre, C.6
Nusco, E.7
Auricchio, A.8
Naldini, L.9
Ballabio, A.10
Cosma, MP.11
-
22
-
-
34247146896
-
Stable gene expression occurs from a minority of integrated HIV-1 based vectors; transcriptional silencing is present in the majority
-
Mok H.P., Saved S., and Lever A. Stable gene expression occurs from a minority of integrated HIV-1 based vectors; transcriptional silencing is present in the majority. Gene Ther. 14 (2007) 741-751
-
(2007)
Gene Ther.
, vol.14
, pp. 741-751
-
-
Mok, H.P.1
Saved, S.2
Lever, A.3
-
23
-
-
0036932904
-
Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy
-
Xu L., Mango R.L., Sands M.S., Haskins M.E., Ellinwood N.M., and Ponder K.P. Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy. Mol. Ther. 6 (2002) 745-758
-
(2002)
Mol. Ther.
, vol.6
, pp. 745-758
-
-
Xu, L.1
Mango, R.L.2
Sands, M.S.3
Haskins, M.E.4
Ellinwood, N.M.5
Ponder, K.P.6
-
24
-
-
20544466985
-
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector
-
Di Natale P., Di Domentico C., Gargiulo N., Castaldo S., Gonzalez Y., Reyero E., Mithbaokar P., De Felice M., Follenzi A., Naldini L., and Villani R.D. Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. Biochem. J. (2005) 639-646
-
(2005)
Biochem. J.
, pp. 639-646
-
-
Di Natale, P.1
Di Domentico, C.2
Gargiulo, N.3
Castaldo, S.4
Gonzalez, Y.5
Reyero, E.6
Mithbaokar, P.7
De Felice, M.8
Follenzi, A.9
Naldini, L.10
Villani, R.D.11
-
25
-
-
29344470027
-
Expression in blood cells may contribute to biochemical and pathological improvements after neonatal intravenous gene therapy for mucopolysaccharidosis VII in dogs
-
Wang B., O'Malley T.M., Xu L., Vite C., Wang P., O'Donnell P.A., Ellinwood N.M., Haskins M.E., and Ponder K.P. Expression in blood cells may contribute to biochemical and pathological improvements after neonatal intravenous gene therapy for mucopolysaccharidosis VII in dogs. Mol. Genet. Metab. 87 (2006) 8-21
-
(2006)
Mol. Genet. Metab.
, vol.87
, pp. 8-21
-
-
Wang, B.1
O'Malley, T.M.2
Xu, L.3
Vite, C.4
Wang, P.5
O'Donnell, P.A.6
Ellinwood, N.M.7
Haskins, M.E.8
Ponder, K.P.9
-
26
-
-
17644423927
-
Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector
-
Kobayashi H., Carbonaro D., Pepper K., Petersen D., Ge S., Jackson H., Shimanda H., Moats R., and Kohn D.B. Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector. Mol. Ther. 11 (2005) 776-789
-
(2005)
Mol. Ther.
, vol.11
, pp. 776-789
-
-
Kobayashi, H.1
Carbonaro, D.2
Pepper, K.3
Petersen, D.4
Ge, S.5
Jackson, H.6
Shimanda, H.7
Moats, R.8
Kohn, D.B.9
-
27
-
-
0033515007
-
Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease
-
Daly T.M., Vogler C., Levy B., Haskins M.E., and Sands M.S. Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc. Natl. Acad. Sci. USA 96 (1999) 2296-2300
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 2296-2300
-
-
Daly, T.M.1
Vogler, C.2
Levy, B.3
Haskins, M.E.4
Sands, M.S.5
-
28
-
-
0023102826
-
Interendothelial junctional changes underlie the developmental "tightening" of the blood brain barrier
-
Stewart P.A., and Hayakawa E.M. Interendothelial junctional changes underlie the developmental "tightening" of the blood brain barrier. Devel. Brain Res. 32 (1987) 271-281
-
(1987)
Devel. Brain Res.
, vol.32
, pp. 271-281
-
-
Stewart, P.A.1
Hayakawa, E.M.2
|