메뉴 건너뛰기




Volumn 62, Issue 3, 1998, Pages 562-572

Biochemical characterization' of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

Author keywords

[No Author keywords available]

Indexed keywords

ARYLSULFATASE;

EID: 0031960396     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301746     Document Type: Article
Times cited : (40)

References (34)
  • 1
    • 1842283931 scopus 로고
    • Isolation and characterization of a steroid sulphatase cDNA clone: Genomic deletions in patients with X-chromosome-linked ichthyosis
    • Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, et al (1987) Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci USA 84:4519-4523
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4519-4523
    • Ballabio, A.1    Parenti, G.2    Carrozzo, R.3    Sebastio, G.4    Andria, G.5    Buckle, V.6    Fraser, N.7
  • 2
    • 0002426287 scopus 로고
    • STS deficiency and X-linked ichthyosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Ballabio A, Shapiro LJ (1995) STS deficiency and X-linked ichthyosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2999-3022
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2999-3022
    • Ballabio, A.1    Shapiro, L.J.2
  • 3
    • 0024462447 scopus 로고
    • A novel 58-kDa protein associates with the Golgi apparatus and microtubules
    • Bloom GS, Brashear TA (1989) A novel 58-kDa protein associates with the Golgi apparatus and microtubules. J Biol Chem 264:16083-16092
    • (1989) J Biol Chem , vol.264 , pp. 16083-16092
    • Bloom, G.S.1    Brashear, T.A.2
  • 5
    • 0019887744 scopus 로고
    • Phase separation of integral membrane proteins in Triton X-114 solution
    • Bordier C (1981) Phase separation of integral membrane proteins in Triton X-114 solution. J Biol Chem 256:1604-1607
    • (1981) J Biol Chem , vol.256 , pp. 1604-1607
    • Bordier, C.1
  • 7
    • 0028924667 scopus 로고
    • A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy
    • Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, et al (1995) A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell 81:15-25
    • (1995) Cell , vol.81 , pp. 15-25
    • Franco, B.1    Meroni, G.2    Parenti, G.3    Levilliers, J.4    Bernard, L.5    Gebbia, M.6    Cox, L.7
  • 8
    • 0020039866 scopus 로고
    • Isolation of intracellular membranes by means of sodium carbonate treatment: Application to endoplasmic reticulum
    • Fujiki Y, Hubbard AL, Fowler S, Lazaro PB (1982) Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum. J Cell Biol 93:97-102
    • (1982) J Cell Biol , vol.93 , pp. 97-102
    • Fujiki, Y.1    Hubbard, A.L.2    Fowler, S.3    Lazaro, P.B.4
  • 9
    • 0018916729 scopus 로고
    • Maternal and fetal sequelae of anticoagulation during pregnancy
    • Hall JG, Pauli RM, Wilson KM (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med 68:122-140
    • (1980) Am J Med , vol.68 , pp. 122-140
    • Hall, J.G.1    Pauli, R.M.2    Wilson, K.M.3
  • 10
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    • Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, et al (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hästbacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3    Clines, G.4    Reeve-Daly, M.P.5    Daly, M.6    Hamilton, B.A.7
  • 11
    • 0025666525 scopus 로고
    • The mucopolysaccharidoses: Diagnosis, molecular genetics and treatment
    • Hopwood JJ, Morris CP (1990) The mucopolysaccharidoses: diagnosis, molecular genetics and treatment. Mol Biol Med 7:381-404
    • (1990) Mol Biol Med , vol.7 , pp. 381-404
    • Hopwood, J.J.1    Morris, C.P.2
  • 12
    • 0001245698 scopus 로고
    • Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2693-2741
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2693-2741
    • Kolodny, E.H.1    Fluharty, A.L.2
  • 13
    • 0029987932 scopus 로고    scopus 로고
    • Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region
    • Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A (1996) Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum Mol Genet 5: 423-431
    • (1996) Hum Mol Genet , vol.5 , pp. 423-431
    • Meroni, G.1    Franco, B.2    Archidiacono, N.3    Messali, S.4    Andolfi, G.5    Rocchi, M.6    Ballabio, A.7
  • 14
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2465-2494
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 2465-2494
    • Neufeld, E.F.1    Muenzer, J.2
  • 15
    • 0024002556 scopus 로고
    • Luciferase reporter gene vectors for analysis of promoters and enhancers
    • Nordeen SK (1988) Luciferase reporter gene vectors for analysis of promoters and enhancers. Biotechniques 6:454-457
    • (1988) Biotechniques , vol.6 , pp. 454-457
    • Nordeen, S.K.1
  • 18
    • 0023609775 scopus 로고
    • Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivatives
    • Pauli RM, Lian JB, Mosher DF, Suttie JW (1987) Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the Warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 41:566-583
    • (1987) Am J Hum Genet , vol.41 , pp. 566-583
    • Pauli, R.M.1    Lian, J.B.2    Mosher, D.F.3    Suttie, J.W.4
  • 19
    • 0027220591 scopus 로고
    • β-cop is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo
    • Pepperkok R, Scheel J, Horstmann H, Hauri HP, Griffiths G, Kreis TE (1993) β-cop is essential for biosynthetic membrane transport from the endoplasmic reticulum to the Golgi complex in vivo. Cell 74:71-82
    • (1993) Cell , vol.74 , pp. 71-82
    • Pepperkok, R.1    Scheel, J.2    Horstmann, H.3    Hauri, H.P.4    Griffiths, G.5    Kreis, T.E.6
  • 21
    • 0031172098 scopus 로고    scopus 로고
    • Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region
    • Puca A, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, et al (1997) Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulphatase gene (ARSF) from the Xp22.3 region. Genomics 42:192-199
    • (1997) Genomics , vol.42 , pp. 192-199
    • Puca, A.1    Zollo, M.2    Repetto, M.3    Andolfi, G.4    Guffanti, A.5    Simon, G.6    Ballabio, A.7
  • 23
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • Schmidt B, Seimer T, Ingendoh A, yon Figura K (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 82:271-278
    • (1995) Cell , vol.82 , pp. 271-278
    • Schmidt, B.1    Seimer, T.2    Ingendoh, A.3    Yon Figura, K.4
  • 24
    • 0029898602 scopus 로고    scopus 로고
    • The evolutionary conservation of a novel protein modification, the conversion of cysteine to serine semialdehyde in arylsulfatase from Volvox carteri
    • Selmer T, Hallmann A, Schmidt B, Sumper M, Von Figura K (1996) The evolutionary conservation of a novel protein modification, the conversion of cysteine to serine semialdehyde in arylsulfatase from Volvox carteri. Eur J Biochem 238:341-345
    • (1996) Eur J Biochem , vol.238 , pp. 341-345
    • Selmer, T.1    Hallmann, A.2    Schmidt, B.3    Sumper, M.4    Von Figura, K.5
  • 27
    • 0028030298 scopus 로고
    • A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB
    • Superti-Furga A (1994) A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 55:1137-1145
    • (1994) Am J Hum Genet , vol.55 , pp. 1137-1145
    • Superti-Furga, A.1
  • 28
    • 0023850352 scopus 로고
    • SRα promoter: An efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat
    • Takebe Y, Seiki M, Fujisawa J-I, Hoy P, Yokota K, Arai K-I, Yoshida M, et al (1988) SRα promoter: an efficient and versatile mammalian cDNA expression system composed of the simian virus 40 early promoter and the R-U5 segment of human T-cell leukemia virus type 1 long terminal repeat. Mol Cell Biol 8:466-472
    • (1988) Mol Cell Biol , vol.8 , pp. 466-472
    • Takebe, Y.1    Seiki, M.2    Fujisawa, J.-I.3    Hoy, P.4    Yokota, K.5    Arai, K.-I.6    Yoshida, M.7
  • 29
    • 0020610629 scopus 로고
    • Lectin-binding sites as markers of Golgi subcompartments: Proximal-to-distal maturation of oligosaccharides
    • Tartakoff AM, Vassalli P (1983) Lectin-binding sites as markers of Golgi subcompartments: proximal-to-distal maturation of oligosaccharides. J Cell Biol 97:1243-1248
    • (1983) J Cell Biol , vol.97 , pp. 1243-1248
    • Tartakoff, A.M.1    Vassalli, P.2
  • 30
    • 0023046815 scopus 로고
    • A new method for predicting signal sequence cleavage sites
    • von Heijne G (1986) A new method for predicting signal sequence cleavage sites. Nucleic Acids Res 14:4683-4690
    • (1986) Nucleic Acids Res , vol.14 , pp. 4683-4690
    • Von Heijne, G.1
  • 31
    • 0028916281 scopus 로고
    • High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1)
    • Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, et al (1995) High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics 26:229-238
    • (1995) Genomics , vol.26 , pp. 229-238
    • Wang, I.1    Franco, B.2    Ferrero, G.B.3    Chinault, A.C.4    Weissenbach, J.5    Chumakov, I.6    Le Paslier, D.7
  • 33
    • 0023900795 scopus 로고
    • Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor
    • Willemsen R, Kroos M, Hoogeveen AT, van Dongen JM, Parenti G, van der Loos CM, Reuser AJJ (1988) Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor. Histochem J 20:41-51
    • (1988) Histochem J , vol.20 , pp. 41-51
    • Willemsen, R.1    Kroos, M.2    Hoogeveen, A.T.3    Van Dongen, J.M.4    Parenti, G.5    Van Der Loos, C.M.6    Reuser, A.J.J.7
  • 34
    • 0023662270 scopus 로고
    • Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implication for X-Y interchange
    • Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ (1987) Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implication for X-Y interchange. Cell 49: 443-454
    • (1987) Cell , vol.49 , pp. 443-454
    • Yen, P.H.1    Allen, E.2    Marsh, B.3    Mohandas, T.4    Wang, N.5    Taggart, R.T.6    Shapiro, L.J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.