메뉴 건너뛰기




Volumn 1406, Issue 2, 1998, Pages 214-218

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations

Author keywords

Expression study; Hunter's disease; Iduronate 2 sulfatase (IDS); Lysosome; Mucopolysaccharidosis

Indexed keywords

IDURONATE 2 SULFATASE;

EID: 0032485490     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(97)00096-3     Document Type: Article
Times cited : (15)

References (20)
  • 1
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), McGraw-Hill, New York
    • [1] E.F. Neufeld, J. Muenzer, The mucopolysaccharidoses, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, 6th edn., McGraw-Hill, New York, 1989, pp. 1565-1587.
    • (1989) The Metabolic Basis of Inherited Disease, 6th Edn. , pp. 1565-1587
    • Neufeld, E.F.1    Muenzer, J.2
  • 2
    • 0025047301 scopus 로고
    • Human liver iduronate-2-sulphatase: Purification, characterization and catalytic properties
    • [2] J. Bielecki, C. Freeman, P.R. Clements, J.J. Hopwood, Human liver iduronate-2-sulphatase: Purification, characterization and catalytic properties, Biochem. J. 271 (1990) 75-86.
    • (1990) Biochem. J. , vol.271 , pp. 75-86
    • Bielecki, J.1    Freeman, C.2    Clements, P.R.3    Hopwood, J.J.4
  • 4
    • 0027410698 scopus 로고
    • Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene
    • [4] R.H. Flomen, E.P. Green, P.M. Green, D.R. Bentley, F. Giannelli, Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene, Hum. Mol. Genet. 2 (1993) 5-10.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 5-10
    • Flomen, R.H.1    Green, E.P.2    Green, P.M.3    Bentley, D.R.4    Giannelli, F.5
  • 5
    • 0027254236 scopus 로고
    • Sequence of the human iduronate 2-sulfatase (IDS) gene
    • [5] P.J. Wilson, C.A. Meaney, J.J. Hopwood, C.P. Morris, Sequence of the human iduronate 2-sulfatase (IDS) gene, Genomics 17 (1993) 773-775.
    • (1993) Genomics , vol.17 , pp. 773-775
    • Wilson, P.J.1    Meaney, C.A.2    Hopwood, J.J.3    Morris, C.P.4
  • 6
    • 0029041456 scopus 로고
    • Processing of iduronate-2-sulphatase in human fibroblasts
    • [6] R. Froissart, G. Millat, M. Mathieu, D. Bozon, I. Maire, Processing of iduronate-2-sulphatase in human fibroblasts, Biochem. J. 309 (1995) 425-430.
    • (1995) Biochem. J. , vol.309 , pp. 425-430
    • Froissart, R.1    Millat, G.2    Mathieu, M.3    Bozon, D.4    Maire, I.5
  • 7
    • 0031079605 scopus 로고    scopus 로고
    • IDS transfer from overexpressing cells to IDS-deficient cells
    • [7] G. Millat, R. Froissart, I. Maire, D. Bozon, IDS transfer from overexpressing cells to IDS-deficient cells, Exp. Cell Res. 230 (1997) 362-367.
    • (1997) Exp. Cell Res. , vol.230 , pp. 362-367
    • Millat, G.1    Froissart, R.2    Maire, I.3    Bozon, D.4
  • 8
    • 0028854505 scopus 로고
    • Mutations of iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)
    • [8] E. Popowska, M. Rathmann, A. Tylki-Szymanska, S. Bunge, C. Steglich, E. Schwinger, A. Gal, Mutations of iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome), Hum. Mutat. 5 (1995) 97-100.
    • (1995) Hum. Mutat. , vol.5 , pp. 97-100
    • Popowska, E.1    Rathmann, M.2    Tylki-Szymanska, A.3    Bunge, S.4    Steglich, C.5    Schwinger, E.6    Gal, A.7
  • 11
    • 0018639079 scopus 로고
    • Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
    • [11] J.M. Chirgwin, A.E. Przbyla, R.J. MacDonald, W.J. Rutter, Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease, Biochemistry 18 (1979) 5294-5299.
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
    • Chirgwin, J.M.1    Przbyla, A.E.2    MacDonald, R.J.3    Rutter, W.J.4
  • 12
    • 0023665343 scopus 로고
    • A rapid method for the purification of DNA from blood
    • [12] M. Jeanpierre, A rapid method for the purification of DNA from blood, Nucleic Acids Res. 15 (1987) 9611.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 9611
    • Jeanpierre, M.1
  • 13
    • 0029097761 scopus 로고
    • Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate sulfatase gene in Japanese patients
    • [13] K. Sukegawa, S. Tomatsu, T. Fukao, H. Iwata, X.Q. Song, Y. Yamada, S. Fukuda, K. Isogai, T. Orii, Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate sulfatase gene in Japanese patients, Hum. Mutat. 6 (1995) 136-143.
    • (1995) Hum. Mutat. , vol.6 , pp. 136-143
    • Sukegawa, K.1    Tomatsu, S.2    Fukao, T.3    Iwata, H.4    Song, X.Q.5    Yamada, Y.6    Fukuda, S.7    Isogai, K.8    Orii, T.9
  • 15
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • [15] B. Schmidt, T. Selmer, A. Ingendoh, K. von Figura, A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency, Cell 82 (1995) 271-278.
    • (1995) Cell , vol.82 , pp. 271-278
    • Schmidt, B.1    Selmer, T.2    Ingendoh, A.3    Von Figura, K.4
  • 17
    • 0026594366 scopus 로고
    • Multiple sulfatase deficiency: Catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs
    • [17] W. Rommerskirch, K. von Figura, Multiple sulfatase deficiency: Catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs, Proc. Natl. Acad. Sci. U.S.A. 89 (1992) 2561-2565.
    • (1992) Proc. Natl. Acad. Sci. U.S.A. , vol.89 , pp. 2561-2565
    • Rommerskirch, W.1    Von Figura, K.2
  • 18
    • 0030928564 scopus 로고    scopus 로고
    • Characterization of IDS mutants affecting N-glycosylation sites and the 84 cysteine residue
    • [18] G. Millat, R. Froissart, I. Maire, D. Bozon, Characterization of IDS mutants affecting N-glycosylation sites and the 84 cysteine residue, Biochem. J. 326 (1997) 243-247.
    • (1997) Biochem. J. , vol.326 , pp. 243-247
    • Millat, G.1    Froissart, R.2    Maire, I.3    Bozon, D.4
  • 19
    • 0028920905 scopus 로고    scopus 로고
    • Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein
    • [19] D.A. Brooks, D.A. Roberstson, C. Bindloss, T. Litjens, D.S. Anson, C. Peters, C.P. Morris, J.J. Hopwood, Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein, Biochem. J. 307 (1996) 457-463.
    • (1996) Biochem. J. , vol.307 , pp. 457-463
    • Brooks, D.A.1    Roberstson, D.A.2    Bindloss, C.3    Litjens, T.4    Anson, D.S.5    Peters, C.6    Morris, C.P.7    Hopwood, J.J.8
  • 20
    • 0028180759 scopus 로고
    • Pseudodeficiencies of lysosomal hydrolases
    • [20] G.H. Thomas, Pseudodeficiencies of lysosomal hydrolases, Am. J. Hum. Genet. 54 (1994) 934-940.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 934-940
    • Thomas, G.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.