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Volumn 163, Issue 5, 2003, Pages 2093-2101

Viable Mouse Models of Acid β-Glucosidase Deficiency: The Defect in Gaucher Disease

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; GLYCOSPHINGOLIPID; LIPID; MESSENGER RNA;

EID: 0142244182     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63566-3     Document Type: Article
Times cited : (138)

References (45)
  • 2
    • 0020518365 scopus 로고
    • Gaucher disease-Norrbottnian type: Neurodevelopmental, neurological, and neurophysiological aspects
    • Blom S, Erikson A: Gaucher disease-Norrbottnian type: neurodevelopmental, neurological, and neurophysiological aspects. Eur J Pediatr 1983, 140:316-322
    • (1983) Eur J Pediatr , vol.140 , pp. 316-322
    • Blom, S.1    Erikson, A.2
  • 3
    • 0020020286 scopus 로고
    • Phenotypic manifestations of Gaucher disease: Clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients
    • Kolodny EH, Ullman MD, Mankin HJ, Raghavan SS, Topol J, Sullivan JL: Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Prog Clin Biol Res 1982, 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
  • 4
    • 0014041526 scopus 로고
    • Infantile Gaucher's disease: Electron microscopic and histochemical studies of a cerebral biopsy
    • Volk BW, Wallace BJ, Adachi M: Infantile Gaucher's disease: electron microscopic and histochemical studies of a cerebral biopsy. J Neuropathol Exp Neurol 1967, 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
    • 0014093356 scopus 로고
    • Fine structure of central nervous system in early infantile Gaucher's disease
    • Adachi M, Wallace BJ, Schneck L, Volk BW: Fine structure of central nervous system in early infantile Gaucher's disease. Arch Pathol (Chicago) 1967, 83:513-526
    • (1967) Arch Pathol (Chicago) , vol.83 , pp. 513-526
    • Adachi, M.1    Wallace, B.J.2    Schneck, L.3    Volk, B.W.4
  • 7
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA: Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet 1993, 52:1094-1101
    • (1993) Am J Hum Genet , vol.52 , pp. 1094-1101
    • Sibille, A.1    Eng, C.M.2    Kim, S.J.3    Pastores, G.4    Grabowski, G.A.5
  • 9
    • 0024455533 scopus 로고
    • Gaucher disease: Molecular heterogeneity and phenotype-genotype correlations
    • Theophilus B, Latham T, Grabowski GA, Smith FI: Gaucher disease: molecular heterogeneity and phenotype-genotype correlations. Am J Hum Genet 1989, 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
  • 10
    • 0024426498 scopus 로고
    • Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene
    • Theophilus BD, Latham T, Grabowski GA, Smith FI: Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene. Nucleic Acids Res 1989, 17:7707-7722
    • (1989) Nucleic Acids Res , vol.17 , pp. 7707-7722
    • Theophilus, B.D.1    Latham, T.2    Grabowski, G.A.3    Smith, F.I.4
  • 11
    • 0028157443 scopus 로고
    • Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression
    • Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA: Analysis of human acid β-glucosidase by site-directed mutagenesis and heterologous expression. J Biol Chem 1994, 269:2283-2291
    • (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
  • 13
    • 0034019274 scopus 로고    scopus 로고
    • Severe type II Gaucher disease with ichthyosis, arthrogryposis, and neuronal apoptosis: Molecular and pathological analyses
    • Finn LS, Zhang M, Chen SH, Scott CR: Severe type II Gaucher disease with ichthyosis, arthrogryposis, and neuronal apoptosis: molecular and pathological analyses. Am J Med Genet 2000, 91:222-226
    • (2000) Am J Med Genet , vol.91 , pp. 222-226
    • Finn, L.S.1    Zhang, M.2    Chen, S.H.3    Scott, C.R.4
  • 18
    • 0025139019 scopus 로고
    • A murine model of mucopolysaccharidosis VII: Gross and microscopic findings in β-glucuronidase-deficient mice
    • Vogler C, Birkenmeier EH, Sly WS, Levy B, Pegors C, Kyle JW, Beamer WG: A murine model of mucopolysaccharidosis VII: gross and microscopic findings in β-glucuronidase-deficient mice. Am J Pathol 1990, 136:207-217
    • (1990) Am J Pathol , vol.136 , pp. 207-217
    • Vogler, C.1    Birkenmeier, E.H.2    Sly, W.S.3    Levy, B.4    Pegors, C.5    Kyle, J.W.6    Beamer, W.G.7
  • 21
    • 71749085538 scopus 로고    scopus 로고
    • Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice
    • de Geest N, Bonten E, Mann L, de Sousa-Hitzier J, Hahn C, d'Azzo A: Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. Hum Mol Genet 2002, 11:1455-1464
    • (2002) Hum Mol Genet , vol.11 , pp. 1455-1464
    • De Geest, N.1    Bonten, E.2    Mann, L.3    De Sousa-Hitzier, J.4    Hahn, C.5    D'Azzo, A.6
  • 22
    • 0034641594 scopus 로고    scopus 로고
    • Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: Relationship between brain intra-lysosomal enzyme activity and central nervous system function
    • Marathe S, Miranda SR, Devlin C, Johns A, Kuriakose G, Williams KJ, Schuchman EH, Tabas I: Creation of a mouse model for non-neurological (type B) Niemann-Pick disease by stable, low level expression of lysosomal sphingomyelinase in the absence of secretory sphingomyelinase: relationship between brain intra-lysosomal enzyme activity and central nervous system function. Hum Mol Genet 2000, 9:1967-1976
    • (2000) Hum Mol Genet , vol.9 , pp. 1967-1976
    • Marathe, S.1    Miranda, S.R.2    Devlin, C.3    Johns, A.4    Kuriakose, G.5    Williams, K.J.6    Schuchman, E.H.7    Tabas, I.8
  • 24
    • 0000857916 scopus 로고    scopus 로고
    • Sphingolipid activator proteins
    • Edited by Scriver CR, Beaudet A, Sly W, Valle D. New York, McGraw-Hill
    • Sandhoff K, Kolter T, Harzer K: Sphingolipid activator proteins. The Metabolic and Molecular Bases of Inherited Disease. Edited by Scriver CR, Beaudet A, Sly W, Valle D. New York, McGraw-Hill, 2001, pp 3371-3388
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 3371-3388
    • Sandhoff, K.1    Kolter, T.2    Harzer, K.3
  • 25
    • 0024998724 scopus 로고
    • Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene
    • Dahl N, Lagerström M, Erikson A, Pettersson U: Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 1990, 47:275-278
    • (1990) Am J Hum Genet , vol.47 , pp. 275-278
    • Dahl, N.1    Lagerström, M.2    Erikson, A.3    Pettersson, U.4
  • 26
    • 0028098053 scopus 로고
    • Mutation analysis of 28 Gaucher disease patients: The australasian experience
    • Lewis BD, Nelson PV, Robertson EF, Morris CP: Mutation analysis of 28 Gaucher disease patients: the australasian experience. Am J Med Genet 1994, 49:218-223
    • (1994) Am J Med Genet , vol.49 , pp. 218-223
    • Lewis, B.D.1    Nelson, P.V.2    Robertson, E.F.3    Morris, C.P.4
  • 27
    • 0024400710 scopus 로고
    • Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences
    • O'Neill RR, Tokoro T, Kozak CA, Brady RO: Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci USA 1989, 86:5049-5053
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 5049-5053
    • O'Neill, R.R.1    Tokoro, T.2    Kozak, C.A.3    Brady, R.O.4
  • 29
    • 0025112855 scopus 로고
    • Glyceraldehyde-3-phosphate dehydrogenase mRNA is a major interleukin 2-induced transcript in a cloned T-helper lymphocyte
    • Sabath DE, Broome HE, Prystowsky MB: Glyceraldehyde-3-phosphate dehydrogenase mRNA is a major interleukin 2-induced transcript in a cloned T-helper lymphocyte. Gene 1990, 91:185-191
    • (1990) Gene , vol.91 , pp. 185-191
    • Sabath, D.E.1    Broome, H.E.2    Prystowsky, M.B.3
  • 31
    • 0023158587 scopus 로고
    • Gaucher disease: Genetic heterogeneity within and among the subtypes detected by immunoblotting
    • Fabbro D, Desnick RJ, Grabowski GA: Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 1987, 40:15-31
    • (1987) Am J Hum Genet , vol.40 , pp. 15-31
    • Fabbro, D.1    Desnick, R.J.2    Grabowski, G.A.3
  • 33
    • 0022975258 scopus 로고
    • Human acid β-glucosidase: Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes
    • Grabowski GA, Osiecki-Newman K, Dinur T, Fabbro D, Legler G, Gatt S, Desnick RJ: Human acid β-glucosidase: use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. J Biol Chem 1986, 261:8263-8269
    • (1986) J Biol Chem , vol.261 , pp. 8263-8269
    • Grabowski, G.A.1    Osiecki-Newman, K.2    Dinur, T.3    Fabbro, D.4    Legler, G.5    Gatt, S.6    Desnick, R.J.7
  • 34
    • 0029982572 scopus 로고    scopus 로고
    • Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
    • Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H: 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 1996, 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
  • 35
    • 33847517624 scopus 로고
    • The use of Sephadex for the removal of non-lipid contaminants from lipid extracts
    • Wells MA, Dittmer JC: The use of Sephadex for the removal of non-lipid contaminants from lipid extracts. Biochemistry 1963, 2:1259-1263
    • (1963) Biochemistry , vol.2 , pp. 1259-1263
    • Wells, M.A.1    Dittmer, J.C.2
  • 36
    • 0031570771 scopus 로고    scopus 로고
    • Successive isolation and separation of the major lipid fractions including gangliosides from single biological samples
    • Dreyfus H, Guerold B, Freysz L, Hicks D: Successive isolation and separation of the major lipid fractions including gangliosides from single biological samples. Anal Biochem 1997, 249:67-78
    • (1997) Anal Biochem , vol.249 , pp. 67-78
    • Dreyfus, H.1    Guerold, B.2    Freysz, L.3    Hicks, D.4
  • 37
    • 0020682408 scopus 로고
    • Abnormal accumulation of galactosylceramide in the kidney of twitcher mouse
    • Igisu H, Takahashi H, Suzuki K, Suzuki K: Abnormal accumulation of galactosylceramide in the kidney of twitcher mouse. Biochem Biophys Res Commun 1983, 110:940-944
    • (1983) Biochem Biophys Res Commun , vol.110 , pp. 940-944
    • Igisu, H.1    Takahashi, H.2    Suzuki, K.3    Suzuki, K.4
  • 40
    • 0031717379 scopus 로고    scopus 로고
    • Inducible gene targeting in mice using the Cre/Iox system
    • Sauer B: Inducible gene targeting in mice using the Cre/Iox system. Methods 1998, 14:381-392
    • (1998) Methods , vol.14 , pp. 381-392
    • Sauer, B.1
  • 41
    • 0021085107 scopus 로고
    • Partial enzyme deficiencies: Residual activities and the development of neurological disorders
    • Conzelmann E, Sandhoff K: Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 1983, 6:58-71
    • (1983) Dev Neurosci , vol.6 , pp. 58-71
    • Conzelmann, E.1    Sandhoff, K.2
  • 43
  • 45
    • 0025973846 scopus 로고
    • Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients
    • Latham TE, Theophilus BD, Grabowski GA, Smith FI: Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients. DNA Cell Biol 1991, 10:15-21
    • (1991) DNA Cell Biol , vol.10 , pp. 15-21
    • Latham, T.E.1    Theophilus, B.D.2    Grabowski, G.A.3    Smith, F.I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.