메뉴 건너뛰기




Volumn 12, Issue 24, 2003, Pages 3349-3358

Mouse model on N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN 6 SULFATE; GLYCOSAMINOGLYCAN; KERATAN SULFATE; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 6 SULFATASE;

EID: 0346752134     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg366     Document Type: Article
Times cited : (76)

References (41)
  • 1
    • 0026314681 scopus 로고
    • N-acetylgalactosamine-6-sulfate sulfatase in human placenta: Purification and characteristics
    • Masue, M., Sukegawa, K., Orii, T. and Hashimoto, T. (1991) N-acetylgalactosamine-6-sulfate sulfatase in human placenta: purification and characteristics. J. Biochem. (Tokyo), 110, 965-970.
    • (1991) J. Biochem. (Tokyo) , vol.110 , pp. 965-970
    • Masue, M.1    Sukegawa, K.2    Orii, T.3    Hashimoto, T.4
  • 3
    • 0028293078 scopus 로고
    • Mucopolysaccharidosis IV A: Molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region
    • Nakashima, Y., Tomatsu, S., Hori, T., Fukuda, S., Sukegawa, K., Kondo, N., Suzuki, Y., Shimozawa, N. and Orii, T. (1994) Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region. Genomics, 20, 99-104.
    • (1994) Genomics , vol.20 , pp. 99-104
    • Nakashima, Y.1    Tomatsu, S.2    Hori, T.3    Fukuda, S.4    Sukegawa, K.5    Kondo, N.6    Suzuki, Y.7    Shimozawa, N.8    Orii, T.9
  • 4
    • 0026733483 scopus 로고
    • Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases
    • Fukuda, S., Tomatsu, S., Masue, M., Sukegawa, K., Iwata, H., Ogawa, T., Nakashima, Y., Hori, T., Yamagishi, A., Hanyu, Y. et al. (1992) Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. J. Clin. Invest., 90, 1049-1053.
    • (1992) J. Clin. Invest. , vol.90 , pp. 1049-1053
    • Fukuda, S.1    Tomatsu, S.2    Masue, M.3    Sukegawa, K.4    Iwata, H.5    Ogawa, T.6    Nakashima, Y.7    Hori, T.8    Yamagishi, A.9    Hanyu, Y.10
  • 10
    • 19144364442 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease
    • Fukuda, S., Tomatsu, S., Masuno, M., Ogawa, T., Yamagishi, A., Rezvi, G.M., Sukegawa, K., Shimozawa, N., Suzuki, Y, Kondo, N. et al. (1996) Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. Hum. Mutat., 7, 123-134.
    • (1996) Hum. Mutat. , vol.7 , pp. 123-134
    • Fukuda, S.1    Tomatsu, S.2    Masuno, M.3    Ogawa, T.4    Yamagishi, A.5    Rezvi, G.M.6    Sukegawa, K.7    Shimozawa, N.8    Suzuki, Y.9    Kondo, N.10
  • 11
    • 15844396990 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IVA (Morquio A): Three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene
    • Fukuda, S., Tomatsu, S., Cooper, A., Wraith, J.E., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Kondo, N. and Orii, T. (1996) Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum. Mutat., 8, 187-190.
    • (1996) Hum. Mutat. , vol.8 , pp. 187-190
    • Fukuda, S.1    Tomatsu, S.2    Cooper, A.3    Wraith, J.E.4    Kato, Z.5    Yamada, N.6    Isogai, K.7    Sukegawa, K.8    Kondo, N.9    Orii, T.10
  • 14
    • 17944387290 scopus 로고    scopus 로고
    • Fifteen polymorphisms in the N-acetylgatactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in Morquio disease
    • Tomatsu, S., Fukuda, S., Cooper, A., Wraith, J.E., Yamagishi, A., Kato, Z., Yamada, N., Isogai, K., Sukegawa, K., Suzuki, Y. et al. (1998) Fifteen polymorphisms in the N-acetylgatactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease. Hum. Mutat., Suppl. 1, S42-S46.
    • (1998) Hum. Mutat. , Issue.SUPPL. 1
    • Tomatsu, S.1    Fukuda, S.2    Cooper, A.3    Wraith, J.E.4    Yamagishi, A.5    Kato, Z.6    Yamada, N.7    Isogai, K.8    Sukegawa, K.9    Suzuki, Y.10
  • 16
    • 16944363304 scopus 로고    scopus 로고
    • Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome
    • Bunge, S., Kleijer, W.J., Tylki-Szymanska, A., Steglich, C., Beck, M., Tomatsu, S., Fukuda, S., Poorthuis, B.J., Czartoryska, B., Orii, T. et al. (1997) Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. Hum. Mutat., 10, 223-232.
    • (1997) Hum. Mutat. , vol.10 , pp. 223-232
    • Bunge, S.1    Kleijer, W.J.2    Tylki-Szymanska, A.3    Steglich, C.4    Beck, M.5    Tomatsu, S.6    Fukuda, S.7    Poorthuis, B.J.8    Czartoryska, B.9    Orii, T.10
  • 17
    • 6844251004 scopus 로고    scopus 로고
    • Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype
    • Yamada, N., Fukuda, S., Tomatsu, S., Muller, V., Hopwood, J.J., Nelson, J., Kato, Z., Yamagishi, A., Sukegawa, K., Kondo, N. et al. (1998) Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum. Mutat., 11, 202-208.
    • (1998) Hum. Mutat. , vol.11 , pp. 202-208
    • Yamada, N.1    Fukuda, S.2    Tomatsu, S.3    Muller, V.4    Hopwood, J.J.5    Nelson, J.6    Kato, Z.7    Yamagishi, A.8    Sukegawa, K.9    Kondo, N.10
  • 18
    • 0029130352 scopus 로고
    • A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency
    • Schmidt, B., Selmer, T., Ingendoh, A. and von 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    Selmer, T.2    Ingendoh, A.3    von Figura, K.4
  • 19
    • 0029566108 scopus 로고
    • A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells
    • Schwenk, F., Baron, U. and Rajewsky, K. (1995) A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucl. Acids Res., 23, 5080-5081.
    • (1995) Nucl. Acids Res. , vol.23 , pp. 5080-5081
    • Schwenk, F.1    Baron, U.2    Rajewsky, K.3
  • 22
    • 0031046840 scopus 로고    scopus 로고
    • Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase
    • Hahn, C.N., del Pilar, M.M., Schroder, M., Vanier, M.T., Hara, Y., Suzuki, K., Suzuki, K. and d'Azzo, A. (1997) Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum. Mol. Genet., 6, 205-211.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 205-211
    • Hahn, C.N.1    del Pilar, M.M.2    Schroder, M.3    Vanier, M.T.4    Hara, Y.5    Suzuki, K.6    Suzuki, K.7    d'Azzo, A.8
  • 23
    • 0344329883 scopus 로고    scopus 로고
    • Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
    • Stinchi, S., Lullmann-Rauch, R., Hartmann, D., Coenen, R., Beccari, T., Orlacchio, A., von Figura, K. and Saftig, P. (1999) Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Hum. Mol. Genet., 8, 1365-1372.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1365-1372
    • Stinchi, S.1    Lullmann-Rauch, R.2    Hartmann, D.3    Coenen, R.4    Beccari, T.5    Orlacchio, A.6    von Figura, K.7    Saftig, P.8
  • 26
    • 0021839434 scopus 로고
    • Absence of keratan sulphate from skeletal tissues of mouse and rat
    • Venn, G. and Mason, R.M. (1985) Absence of keratan sulphate from skeletal tissues of mouse and rat. Biochem. J., 228, 443-450.
    • (1985) Biochem. J. , vol.228 , pp. 443-450
    • Venn, G.1    Mason, R.M.2
  • 32
    • 0017752809 scopus 로고
    • Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-1-iduronidase, by cultured human fibroblasts
    • Sando, G.N. and Neufeld, E.F. (1977) Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-1-iduronidase, by cultured human fibroblasts. Cell, 12, 619-627.
    • (1977) Cell , vol.12 , pp. 619-627
    • Sando, G.N.1    Neufeld, E.F.2
  • 33
    • 17944397871 scopus 로고    scopus 로고
    • The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region
    • 1500
    • Montano, A.M., Yamagishi, A., Tomatsu, S., Fukuda, S., Copeland, N.G., Orii, K.E., Isogai, K., Yamada, N., Kato, Z.I., Jenkins, N.A. et al. (2000) The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5′-flanking region. Biochim. Biophys. Acta, 1500, 323-334.
    • (2000) Biochim. Biophys. Acta , pp. 323-334
    • Montano, A.M.1    Yamagishi, A.2    Tomatsu, S.3    Fukuda, S.4    Copeland, N.G.5    Orii, K.E.6    Isogai, K.7    Yamada, N.8    Kato, Z.I.9    Jenkins, N.A.10
  • 34
    • 0000051454 scopus 로고
    • Microinjection of a rabbit beta-globin gene into zygotes and its subsequent expression in adult mice and their offspring
    • Wagner, T.E., Hoppe, P.C., Jollick, J.D., Scholl, D.R., Hodinka, R.L. and Gault, J.B. (1981) Microinjection of a rabbit beta-globin gene into zygotes and its subsequent expression in adult mice and their offspring. Proc. Natl Acad. Sci. USA, 78, 6376-6380.
    • (1981) Proc. Natl. Acad. Sci. USA , vol.78 , pp. 6376-6380
    • Wagner, T.E.1    Hoppe, P.C.2    Jollick, J.D.3    Scholl, D.R.4    Hodinka, R.L.5    Gault, J.B.6
  • 35
    • 0035018190 scopus 로고    scopus 로고
    • Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches
    • Xu, X., Li, C., Garrett-Beal, L., Larson, D., Wynshaw-Boris, A. and Deng, C.X. (2001) Direct removal in the mouse of a floxed neo gene from a three-loxP conditional knockout allele by two novel approaches. Genesis, 30, 1-6.
    • (2001) Genesis , vol.30 , pp. 1-6
    • Xu, X.1    Li, C.2    Garrett-Beal, L.3    Larson, D.4    Wynshaw-Boris, A.5    Deng, C.X.6
  • 36
    • 0015747997 scopus 로고
    • Beta-glucuronidase deficiency mucopolysaccharidosis: Methods for enzymatic diagnosis
    • Glaser, J.H. and Sly, W.S. (1973) Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis. J. Lab. Clin. Med., 82, 969-977.
    • (1973) J. Lab. Clin. Med. , vol.82 , pp. 969-977
    • Glaser, J.H.1    Sly, W.S.2
  • 37
    • 0018619593 scopus 로고
    • Review of the folin phenol protein quantitation method of Lowry, Rosebrough, Farr and Randall
    • Peterson, G.L. (1979) Review of the folin phenol protein quantitation method of Lowry, Rosebrough, Farr and Randall. Anal. Biochem., 100, 201-220.
    • (1979) Anal. Biochem. , vol.100 , pp. 201-220
    • Peterson, G.L.1
  • 38
    • 0024520993 scopus 로고
    • Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion
    • Whitley, C.B., Ridnour, M.D., Draper, K.A., Dutton, C.M. and Neglia, J.P. (1989) Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin. Chem., 35, 374-379.
    • (1989) Clin. Chem. , vol.35 , pp. 374-379
    • Whitley, C.B.1    Ridnour, M.D.2    Draper, K.A.3    Dutton, C.M.4    Neglia, J.P.5
  • 39
    • 0028260714 scopus 로고
    • Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice
    • Poorthuis, B.J., Romme, A.E., Willemsen, R. and Wagemaker, G. (1994) Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice. Pediatr Res., 36, 187-193.
    • (1994) Pediatr. Res. , vol.36 , pp. 187-193
    • Poorthuis, B.J.1    Romme, A.E.2    Willemsen, R.3    Wagemaker, G.4
  • 40
    • 0020529209 scopus 로고
    • Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan
    • Caterson, B., Christner, J.E. and Baker, J.R. (1983) Identification of a monoclonal antibody that specifically recognizes corneal and skeletal keratan sulfate. Monoclonal antibodies to cartilage proteoglycan. J. Biol. Chem., 258, 8848-8854.
    • (1983) J. Biol. Chem. , vol.258 , pp. 8848-8854
    • Caterson, B.1    Christner, J.E.2    Baker, J.R.3
  • 41
    • 0025139019 scopus 로고
    • A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice
    • Vogler, C., Birkenmeier, E.H., Sly, W.S., Levy, B., Pegors, C., Kyle, J.W. and Beamer, W.G. (1990) A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. Am. J. Pathol., 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.