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Volumn 1500, Issue 3, 2000, Pages 323-334

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region

Author keywords

Galns gene; Lysosomal storage disease; Morquio disease; Mouse; Mucopolysaccharidosis IV A

Indexed keywords

COMPLEMENTARY DNA; N ACETYLGALACTOSAMINE 6 SULFATASE;

EID: 17944397871     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(99)00119-2     Document Type: Article
Times cited : (12)

References (48)
  • 2
    • 0018089574 scopus 로고
    • The enzymic defect in Morquio's disease: The specificity of N-acetylgalactosamine sulfatases
    • Horwitz A.L., Dorfman A. The enzymic defect in Morquio's disease: the specificity of N-acetylgalactosamine sulfatases. Biochem. Biophys. Res. Commun. 80:1978;819-825.
    • (1978) Biochem. Biophys. Res. Commun. , vol.80 , pp. 819-825
    • Horwitz, A.L.1    Dorfman, A.2
  • 3
    • 0000820862 scopus 로고
    • The mucopolysaccharidoses
    • In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, (Eds.), McGraw-Hill, New York
    • E.F. Neufeld, J. Munzer, The mucopolysaccharidoses. In: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, (Eds.), The Metabolic and Molecular Bases of Inherited Disease, Vol. II, McGraw-Hill, New York, 1995, pp. 2476-2477.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.2 , pp. 2476-2477
    • Neufeld, E.F.1    Munzer, J.2
  • 7
    • 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., Orii T. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5′-flanking region. Genomics. 20:1994;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
  • 8
    • 0037639983 scopus 로고
    • Mucopolysaccharidosis type IV A: Characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity
    • Tomatsu S., Fukuda S., Masue M., Sukegawa K., Masuno M., Orii T. Mucopolysaccharidosis type IV A: characterization and chromosomal localization of N-acetylgalactosamine-6-sulfate sulfatase gene and genetic heterogeneity. Am. J. Hum. Genet. 51:(Suppl.):1992;A178.
    • (1992) Am. J. Hum. Genet. , vol.51 , Issue.SUPPL. , pp. 178
    • Tomatsu, S.1    Fukuda, S.2    Masue, M.3    Sukegawa, K.4    Masuno, M.5    Orii, T.6
  • 10
    • 0027189592 scopus 로고
    • Mucopolysaccharidosis IV A: Assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24
    • Masuno M., Tomatsu S., Nakashima Y., Hori T., Fukuda S., Masue M., Sukegawa K., Orii T. Mucopolysaccharidosis IV A: Assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. Genomics. 16:1993;777-778.
    • (1993) Genomics , vol.16 , pp. 777-778
    • Masuno, M.1    Tomatsu, S.2    Nakashima, Y.3    Hori, T.4    Fukuda, S.5    Masue, M.6    Sukegawa, K.7    Orii, T.8
  • 18
    • 0030819854 scopus 로고    scopus 로고
    • Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N-Acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease
    • Fukuda S., Yamada N., Tomatsu S., Sukegawa K., Montaño A.M., Hopwood J.J., Muller V., Orii T., Kondo N. Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-Acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease. Jpn. J. Hum. Genet. 42:1997;317-322.
    • (1997) Jpn. J. Hum. Genet. , vol.42 , pp. 317-322
    • Fukuda, S.1    Yamada, N.2    Tomatsu, S.3    Sukegawa, K.4    Montaño, A.M.5    Hopwood, J.J.6    Muller, V.7    Orii, T.8    Kondo, N.9
  • 21
    • 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., Orii T. 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. 11:1998;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    Orii, T.11
  • 28
    • 0026712987 scopus 로고
    • N-Acetylglucosamine 6-sulfatase deficiency in a Nubian goat: A model for Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
    • Thompson J.N., Jones M.Z., Dawson G., Huffman P.S. N-Acetylglucosamine 6-sulfatase deficiency in a Nubian goat: a model for Sanfilippo syndrome type D (mucopolysaccharidosis IIID). J. Inherit. Metab. Dis. 15:1992;760-768.
    • (1992) J. Inherit. Metab. Dis. , vol.15 , pp. 760-768
    • Thompson, J.N.1    Jones, M.Z.2    Dawson, G.3    Huffman, P.S.4
  • 29
    • 0017758232 scopus 로고
    • Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: A model of Maroteaux-Lamy syndrome
    • Jezyk P.F., Haskins M.E., Patterson D.F., Mellman W.J., Greenstein M. Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux-Lamy syndrome. Science. 198:1977;834-836.
    • (1977) Science , vol.198 , pp. 834-836
    • Jezyk, P.F.1    Haskins, M.E.2    Patterson, D.F.3    Mellman, W.J.4    Greenstein, M.5
  • 34
    • 0025884056 scopus 로고
    • Efficient selection for high expression transfectants with a novel eukaryotic vector
    • Niwa H., Yamamura K., Miyazaki J. Efficient selection for high expression transfectants with a novel eukaryotic vector. Gene. 108:1991;193-200.
    • (1991) Gene , vol.108 , pp. 193-200
    • Niwa, H.1    Yamamura, K.2    Miyazaki, J.3
  • 35
    • 0026314681 scopus 로고
    • N-Acetylgalactosamine-6-sulfate sulfatase in human placenta: Purification and characteristics
    • Masue M., Sukegawa K., Orii T., Hashimoto T. N-Acetylgalactosamine-6-sulfate sulfatase in human placenta: Purification and characteristics. J. Biochem. 110:1991;965-970.
    • (1991) J. Biochem. , vol.110 , pp. 965-970
    • Masue, M.1    Sukegawa, K.2    Orii, T.3    Hashimoto, T.4
  • 36
    • 0026032128 scopus 로고
    • Development and applications of a molecular genetic linkage map of the mouse genome
    • Copeland N.G., Jenkins N.A. Development and applications of a molecular genetic linkage map of the mouse genome. Trends Genet. 7:1991;113-118.
    • (1991) Trends Genet. , vol.7 , pp. 113-118
    • Copeland, N.G.1    Jenkins, N.A.2
  • 37
    • 0019949189 scopus 로고
    • Organization, distribution and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus
    • Jenkins N.A., Copeland N.G., Taylor B.A., Lee B.K. Organization, distribution and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus. J. Virol. 43:1982;26-36.
    • (1982) J. Virol. , vol.43 , pp. 26-36
    • Jenkins, N.A.1    Copeland, N.G.2    Taylor, B.A.3    Lee, B.K.4
  • 41
    • 0026595304 scopus 로고
    • Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I
    • Menon K.P., Tieu P.T., Neufeld E.F. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics. 14:1992;763-768.
    • (1992) Genomics , vol.14 , pp. 763-768
    • Menon, K.P.1    Tieu, P.T.2    Neufeld, E.F.3
  • 42
    • 0026746126 scopus 로고
    • Structure and sequence of the human α-L-iduronidase gene
    • Scott H.S., Guo X.H., Hopwood J.J., Morris C.P. Structure and sequence of the human α-L-iduronidase gene. Genomics. 13:1992;1311-1313.
    • (1992) Genomics , vol.13 , pp. 1311-1313
    • Scott, H.S.1    Guo, X.H.2    Hopwood, J.J.3    Morris, C.P.4
  • 44
    • 0025755453 scopus 로고
    • Human pre-mRNA splicing signals
    • Penotti F.E. Human pre-mRNA splicing signals. J. Theor. Biol. 150:1991;385-420.
    • (1991) J. Theor. Biol. , vol.150 , pp. 385-420
    • Penotti, F.E.1
  • 45
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro M.B., Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15:1987;7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 46
  • 47
    • 0022540321 scopus 로고
    • CpG-rich islands and the function of DNA methylation
    • Bird A.P. CpG-rich islands and the function of DNA methylation. Nature. 321:1986;209-213.
    • (1986) Nature , vol.321 , pp. 209-213
    • Bird, A.P.1
  • 48
    • 0025826050 scopus 로고
    • Lysosomal storage diseases
    • Neufeld E.F. Lysosomal storage diseases. Annu. Rev. Biochem. 60:1991;257-280.
    • (1991) Annu. Rev. Biochem. , vol.60 , pp. 257-280
    • Neufeld, E.F.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.