메뉴 건너뛰기




Volumn 65, Issue 3, 1996, Pages 184-189

Gaucher disease: Functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells

Author keywords

Baculovirus expression system; Gaucher mutations; gene expression; glucocerebrosidase; recombination

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDASE;

EID: 0029952127     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961028)65:3<184::AID-AJMG3>3.0.CO;2-Q     Document Type: Article
Times cited : (11)

References (17)
  • 1
    • 0000502209 scopus 로고
    • Glucosykeramide lipidosis: Gaucher disease
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): New York: McGraw-Hill
    • Barranger JA, Ginns EI (1989): Glucosykeramide lipidosis: Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic Basis of Inherited Disease," 6th ed. New York: McGraw-Hill, pp 1677-1698.
    • (1989) "The Metabolic Basis of Inherited Disease," 6th Ed. , pp. 1677-1698
    • Barranger, J.A.1    Ginns, E.I.2
  • 2
    • 0027474810 scopus 로고
    • Identification of six new Gaucher disease mutations
    • Beutler E, Gelbart T, West C (1993): Identification of six new Gaucher disease mutations. Genomics 15:203-205.
    • (1993) Genomics , vol.15 , pp. 203-205
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 3
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindings
    • Bradford MM (1976): A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye bindings. Anal Biochem 72:248-254.
    • (1976) Anal Biochem , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 4
    • 50549198437 scopus 로고
    • Metabolism of glucocerebrosidase. II. Evidence of enzymatic deficiency in Gaucher's disease
    • Brady RO, Kanfer JN, Shapiro D (1965): Metabolism of glucocerebrosidase. II. Evidence of enzymatic deficiency in Gaucher's disease. Biochem Biophy Res Commun 18:221-225.
    • (1965) Biochem Biophy Res Commun , vol.18 , pp. 221-225
    • Brady, R.O.1    Kanfer, J.N.2    Shapiro, D.3
  • 5
    • 0021191523 scopus 로고
    • Gaucher disease: The effect of phosphatidylserine on glucocerebrosidase on normal and Gaucher fibroblasts
    • Choy FYM (1984): Gaucher disease: The effect of phosphatidylserine on glucocerebrosidase on normal and Gaucher fibroblasts. Hum Genet 67:432-436.
    • (1984) Hum Genet , vol.67 , pp. 432-436
    • Choy, F.Y.M.1
  • 6
    • 0022485729 scopus 로고
    • In situ radiation-inactivation size of fibroblast membrane-bound acid β-glucosidase in Gaucher type 1, type 2 and type 3 disease
    • Choy FYM, Woo M, Potier M (1986): In situ radiation-inactivation size of fibroblast membrane-bound acid β-glucosidase in Gaucher type 1, type 2 and type 3 disease. Biophys Biochim Acta 870:76-81.
    • (1986) Biophys Biochim Acta , vol.870 , pp. 76-81
    • Choy, F.Y.M.1    Woo, M.2    Potier, M.3
  • 7
    • 0028340854 scopus 로고
    • DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent
    • Choy FYM, Wei C, Applegarth D, McGillivray B (1994a): DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. Am J Med Genet 51: 156-160.
    • (1994) Am J Med Genet , vol.51 , pp. 156-160
    • Choy, F.Y.M.1    Wei, C.2    Applegarth, D.3    McGillivray, B.4
  • 8
    • 0028280918 scopus 로고
    • A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type l Gaucher disease patient
    • Choy, FYM, Wei C, Applegarth DA, Yong SL (1994b): A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type l Gaucher disease patient. Hum Mol Genet 3:821-823.
    • (1994) Hum Mol Genet , vol.3 , pp. 821-823
    • Choy, F.Y.M.1    Wei, C.2    Applegarth, D.A.3    Yong, S.L.4
  • 9
    • 0028157443 scopus 로고
    • Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression
    • Grace ME, Newman KM, Scheinker V, Berg-Fussman A, Grabowski GA (1994): Analysis of human acid beta-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    Berg-Fussman, A.4    Grabowski, G.A.5
  • 13
    • 0027442703 scopus 로고
    • Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications
    • Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski G (1993): Phenotype/genotype correlations in Gaucher disease type I: Clinical and therapeutic implications. Am J Hum Genet 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.5
  • 14
    • 0023522065 scopus 로고
    • The human glucocerebrosidase gene has two functional ATG initiator codons
    • Sorge JA, West C, Kuhl W, Treger L, Beutler E (1987): The human glucocerebrosidase gene has two functional ATG initiator codons. Am J Hum Genet 41:1016-1024.
    • (1987) Am J Hum Genet , vol.41 , pp. 1016-1024
    • Sorge, J.A.1    West, C.2    Kuhl, W.3    Treger, L.4    Beutler, E.5
  • 15
    • 0001962451 scopus 로고
    • A manual of methods for baculovirus vectors and insect cell culture procedures
    • Summers MD, Smith GE (1987): A manual of methods for baculovirus vectors and insect cell culture procedures. Tex Agric Exp Stn Bull No. 1555.
    • (1987) Tex Agric Exp Stn Bull No. 1555
    • Summers, M.D.1    Smith, G.E.2
  • 17
    • 0024320293 scopus 로고
    • Prediction of severity of Gaucher's disease by identification of mutations at DNA level
    • Zimran A, Gross E, West C, Sorge J, Kubitz M, Beutler E (1989): Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 1:349-352.
    • (1989) Lancet , vol.1 , pp. 349-352
    • Zimran, A.1    Gross, E.2    West, C.3    Sorge, J.4    Kubitz, M.5    Beutler, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.