-
1
-
-
0000216808
-
Gaucher disease
-
C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York
-
Beutler, E., and G. A. Grabowski. 2001. Gaucher disease. In The Metabolic and Molecular Basis of Inherited Disease. C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, editors. McGraw-Hill, New York. 3635-3668.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
0036242349
-
Gaucher disease: Perspectives on a prototype lysosomal disease
-
Zhao, H., and G. A. Grabowski. 2002. Gaucher disease: perspectives on a prototype lysosomal disease. Cell. Mol. Life Sci. 59: 694-707.
-
(2002)
Cell. Mol. Life Sci.
, vol.59
, pp. 694-707
-
-
Zhao, H.1
Grabowski, G.A.2
-
3
-
-
0024455533
-
Gaucher disease: Molecular heterogeneity and phenotype-genotype correlations
-
Theophilus, B., T. Latham, G. A. Grabowski, and F. I. Smith. 1989. Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am. J. Hum. Genet. 45: 212-225.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 212-225
-
-
Theophilus, B.1
Latham, T.2
Grabowski, G.A.3
Smith, F.I.4
-
4
-
-
0014041526
-
Infantile Gaucher's disease: Electron microscopic and histochemical studies of a cerebral biopsy
-
Volk, B. W., B. J. Wallace, and M. Adachi. 1967. Infantile Gaucher's disease: electron microscopic and histochemical studies of a cerebral biopsy. J. Neuropathol. Exp. Neurol. 26: 176-177.
-
(1967)
J. Neuropathol. Exp. Neurol.
, vol.26
, pp. 176-177
-
-
Volk, B.W.1
Wallace, B.J.2
Adachi, M.3
-
5
-
-
0020020286
-
Phenotypic manifestations of Gaucherdisease: Clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients
-
Kolodny, E. H., M. D. Ullman, H. J. Mankin, S. S. Raghavan, J. Topol, and J. L. Sullivan. 1982. Phenotypic manifestations of Gaucherdisease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog. Clin. Biol. Res. 95: 33-65.
-
(1982)
Prog. Clin. Biol. Res.
, vol.95
, pp. 33-65
-
-
Kolodny, E.H.1
Ullman, M.D.2
Mankin, H.J.3
Raghavan, S.S.4
Topol, J.5
Sullivan, J.L.6
-
6
-
-
0242524418
-
Enzyme therapy for lysosomal storage disease: Principles, practice, and prospects
-
Grabowski, G. A., and R. J. Hopkin. 2003. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu. Rev. Genomics Hum. Genet. 4: 403-436.
-
(2003)
Annu. Rev. Genomics Hum. Genet.
, vol.4
, pp. 403-436
-
-
Grabowski, G.A.1
Hopkin, R.J.2
-
7
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
Brady, R. O. 2006. Enzyme replacement for lysosomal diseases. Annu. Rev. Med. 57: 283-296.
-
(2006)
Annu. Rev. Med.
, vol.57
, pp. 283-296
-
-
Brady, R.O.1
-
8
-
-
2942588994
-
Enzyme replacement and enhancement therapies for lysosomal diseases
-
Desnick, R. J. 2004. Enzyme replacement and enhancement therapies for lysosomal diseases. J. Inherit. Metab. Dis. 27: 385-410.
-
(2004)
J. Inherit. Metab. Dis.
, vol.27
, pp. 385-410
-
-
Desnick, R.J.1
-
9
-
-
0026753974
-
Structure and evolution of the human prosaposin chromosomal gene
-
Rorman, E. G., V. Scheinker, and G. A. Grabowski. 1992. Structure and evolution of the human prosaposin chromosomal gene. Genomics. 13: 312-318.
-
(1992)
Genomics
, vol.13
, pp. 312-318
-
-
Rorman, E.G.1
Scheinker, V.2
Grabowski, G.A.3
-
10
-
-
0024297787
-
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus
-
O'Brien, J. S., K. A. Kretz, N. Dewji, D. A. Wenger, F. Esch, and A. L. Fluharty. 1988. Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science. 241: 1098-1101.
-
(1988)
Science
, vol.241
, pp. 1098-1101
-
-
O'Brien, J.S.1
Kretz, K.A.2
Dewji, N.3
Wenger, D.A.4
Esch, F.5
Fluharty, A.L.6
-
11
-
-
0023892632
-
Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: Sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator
-
Collard, M. W., S. R. Sylvester, J. K. Tsuruta, and M. D. Griswold. 1988. Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator. Biochemistry. 27: 4557-4564.
-
(1988)
Biochemistry
, vol.27
, pp. 4557-4564
-
-
Collard, M.W.1
Sylvester, S.R.2
Tsuruta, J.K.3
Griswold, M.D.4
-
12
-
-
0035193420
-
Molecular and cell biology of acid β-glucosidase and prosaposin
-
Qi, X., and G. A. Grabowski. 2001. Molecular and cell biology of acid β-glucosidase and prosaposin. Prog. Nucleic Acid Res. Mol. Biol. 66: 203-239.
-
(2001)
Prog. Nucleic Acid Res. Mol. Biol.
, vol.66
, pp. 203-239
-
-
Qi, X.1
Grabowski, G.A.2
-
13
-
-
0026747197
-
Activator proteins and topology of lysosomal sphingolipid catabolism
-
Furst, W., and K. Sandhoff. 1992. Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim. Biophys. Acta. 1126: 1-16.
-
(1992)
Biochim. Biophys. Acta.
, vol.1126
, pp. 1-16
-
-
Furst, W.1
Sandhoff, K.2
-
14
-
-
0030728211
-
Saposins (sap) a and C activate the degradation of galactosylceramide in living cells
-
Harzer, K., B. C. Paton, H. Christomanou, M. Chatelut, T. Levade, M. Hiraiwa, and J. S. O'Brien. 1997. Saposins (sap) A and C activate the degradation of galactosylceramide in living cells. FEBS Lett. 417: 270-274.
-
(1997)
FEBS Lett.
, vol.417
, pp. 270-274
-
-
Harzer, K.1
Paton, B.C.2
Christomanou, H.3
Chatelut, M.4
Levade, T.5
Hiraiwa, M.6
O'Brien, J.S.7
-
15
-
-
0029982572
-
Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
-
Fujita, N., K. Suzuki, M. T. Vanier, B. Popko, N. Maeda, A. Klein, M. Henseler, K. Sandhoff, and H. Nakayasu. 1996. Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum. Mol. Genet. 5: 711-725.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 711-725
-
-
Fujita, N.1
Suzuki, K.2
Vanier, M.T.3
Popko, B.4
Maeda, N.5
Klein, A.6
Henseler, M.7
Sandhoff, K.8
Nakayasu, H.9
-
16
-
-
0035871255
-
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
-
Hulkova, H., M. Cervenkova, J. Ledvinova, M. Tochackova, M. Hrebicek, H. Poupetova, A. Befekadu, L. Berna, B. C. Paton, K. Harzer, et al. 2001. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum. Mol. Genet. 10: 927-940.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 927-940
-
-
Hulkova, H.1
Cervenkova, M.2
Ledvinova, J.3
Tochackova, M.4
Hrebicek, M.5
Poupetova, H.6
Befekadu, A.7
Berna, L.8
Paton, B.C.9
Harzer, K.10
-
17
-
-
0026742377
-
Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase
-
Paton, B. C., B. Schmid, B. Kustermann-Kuhn, A. Poulos, and K. Harzer. 1992. Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase. Biochem. J. 285: 481-488.
-
(1992)
Biochem. J.
, vol.285
, pp. 481-488
-
-
Paton, B.C.1
Schmid, B.2
Kustermann-Kuhn, B.3
Poulos, A.4
Harzer, K.5
-
18
-
-
0041355292
-
Saposin C is required for normal resistance of acid β-glucosidase to proteolytic degradation
-
Sun, Y., X. Qi, and G. A. Grabowski. 2003. Saposin C is required for normal resistance of acid β-glucosidase to proteolytic degradation. J. Biol. Chem. 278: 31918-31923.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 31918-31923
-
-
Sun, Y.1
Qi, X.2
Grabowski, G.A.3
-
19
-
-
25444512703
-
Gaucher disease mouse models: Point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants
-
Sun, Y., B. Quinn, D. P. Witte, and G. A. Grabowski. 2005. Gaucher disease mouse models: point mutations at the acid β-glucosidase locus combined with low-level prosaposin expression lead to disease variants. J. Lipid Res. 46: 2102-2113.
-
(2005)
J. Lipid Res.
, vol.46
, pp. 2102-2113
-
-
Sun, Y.1
Quinn, B.2
Witte, D.P.3
Grabowski, G.A.4
-
20
-
-
0142244182
-
Viable mouse models of acid β-glucosidase deficiency: The defect in Gaucher disease
-
Xu, Y. H., B. Quinn, D. Witte, and G. A. Grabowski. 2003. Viable mouse models of acid β-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
-
21
-
-
0026720075
-
Tight control of gene expression in mammalian cells by tetracycline-responsive promoters
-
Gossen, M., and H. Bujard. 1992. Tight control of gene expression in mammalian cells by tetracycline-responsive promoters. Proc. Natl. Acad. Sci. USA. 89: 5547-5551.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 5547-5551
-
-
Gossen, M.1
Bujard, H.2
-
22
-
-
0029763587
-
Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice
-
Kistner, A., M. Gossen, F. Zimmermann, J. Jerecic, C. Ullmer, H. Lubbert, and H. Bujard. 1996. Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice. Proc. Natl. Acad. Sci. USA. 93: 10933-10938.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 10933-10938
-
-
Kistner, A.1
Gossen, M.2
Zimmermann, F.3
Jerecic, J.4
Ullmer, C.5
Lubbert, H.6
Bujard, H.7
-
23
-
-
0033740246
-
Tetracycline-regulated gene expression in the brain
-
Mansuy, I. M., and H. Bujard. 2000. Tetracycline-regulated gene expression in the brain. Curr. Opin. Neurobiol. 10: 593-596.
-
(2000)
Curr. Opin. Neurobiol.
, vol.10
, pp. 593-596
-
-
Mansuy, I.M.1
Bujard, H.2
-
24
-
-
0038374866
-
Conditional tetracycline-regulated expression of TGF-β1 in liver of transgenic mice leads to reversible intermediary fibrosis
-
Ueberham, E., R. Low, U. Ueberham, K. Schonig, H. Bujard, and R. Gebhardt. 2003. Conditional tetracycline-regulated expression of TGF-β1 in liver of transgenic mice leads to reversible intermediary fibrosis. Hepatology. 37: 1067-1078.
-
(2003)
Hepatology
, vol.37
, pp. 1067-1078
-
-
Ueberham, E.1
Low, R.2
Ueberham, U.3
Schonig, K.4
Bujard, H.5
Gebhardt, R.6
-
25
-
-
0036392385
-
Prosaposin: Threshold rescue and analysis of the "neuritogenic" region in transgenic mice
-
Sun, Y., X. Qi, D. P. Witte, E. Ponce, K. Kondoh, B. Quinn, and G. A. Grabowski. 2002. Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice. Mol. Genet. Metab. 76: 271-286.
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 271-286
-
-
Sun, Y.1
Qi, X.2
Witte, D.P.3
Ponce, E.4
Kondoh, K.5
Quinn, B.6
Grabowski, G.A.7
-
26
-
-
0030030138
-
Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues
-
Xu, Y. H., E. Ponce, Y. Sun, T. Leonova, K. Bove, D. Witte, and G. A. Grabowski. 1996. Turnover and distribution of intravenously administered mannose-terminated human acid β-glucosidase in murine and human tissues. Pediatr. Res. 39: 313-322.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 313-322
-
-
Xu, Y.H.1
Ponce, E.2
Sun, Y.3
Leonova, T.4
Bove, K.5
Witte, D.6
Grabowski, G.A.7
-
27
-
-
0026745074
-
Antigen markers of macrophage differentiation in murine tissues
-
Gordon, S., L. Lawson, S. Rabinowitz, P. R. Crocker, L. Morris, and V. H. Perry. 1992. Antigen markers of macrophage differentiation in murine tissues. Curr. Top. Microbiol. Immunol. 181: 1-37.
-
(1992)
Curr. Top. Microbiol. Immunol.
, vol.181
, pp. 1-37
-
-
Gordon, S.1
Lawson, L.2
Rabinowitz, S.3
Crocker, P.R.4
Morris, L.5
Perry, V.H.6
-
28
-
-
0033795520
-
Fate and sorting of acid β-glucosidase in transgenic mammalian cells
-
Leonova, T., and G. A. Grabowski. 2000. Fate and sorting of acid β-glucosidase in transgenic mammalian cells. Mol. Genet. Metab. 70: 281-294.
-
(2000)
Mol. Genet. Metab.
, vol.70
, pp. 281-294
-
-
Leonova, T.1
Grabowski, G.A.2
-
29
-
-
0031670323
-
Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes
-
Liu, C., A. B. Bahnson, J. T. Dunigan, S. C. Watkins, and J. A. Barranger. 1998. Long-term expression and secretion of human glucocerebrosidase by primary murine and human myoblasts and differentiated myotubes. J. Mol. Med. 76: 773-781.
-
(1998)
J. Mol. Med.
, vol.76
, pp. 773-781
-
-
Liu, C.1
Bahnson, A.B.2
Dunigan, J.T.3
Watkins, S.C.4
Barranger, J.A.5
-
30
-
-
28144437047
-
The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy
-
Du, H., M. Levine, C. Ganesa, D. P. Witte, E. S. Cole, and G. A. Grabowski. 2005. The role of mannosylated enzyme and the mannose receptor in enzyme replacement therapy. Am. J. Hum. Genet. 77: 1061-1074.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 1061-1074
-
-
Du, H.1
Levine, M.2
Ganesa, C.3
Witte, D.P.4
Cole, E.S.5
Grabowski, G.A.6
-
31
-
-
33745242833
-
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
-
McEachern, K. A., J. B. Nietupski, W. L. Chuang, D. Armentano, J. Johnson, E. Hutto, G. A. Grabowski, S. H. Cheng, and J. Marshall. 2006. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J. Gene Med. 8: 719-729.
-
(2006)
J. Gene Med.
, vol.8
, pp. 719-729
-
-
McEachern, K.A.1
Nietupski, J.B.2
Chuang, W.L.3
Armentano, D.4
Johnson, J.5
Hutto, E.6
Grabowski, G.A.7
Cheng, S.H.8
Marshall, J.9
|