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Volumn 38, Issue 2, 1996, Pages 155-165

Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5' flanking region

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN DEBRANCHING ENZYME; MESSENGER RNA;

EID: 0030447828     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0611     Document Type: Article
Times cited : (81)

References (27)
  • 4
    • 0016763295 scopus 로고
    • Debranching enzyme from rabbit skeletal muscle: Evidence for the location of two active centers on a single polypeptide chain
    • Bates, E. J., Heaton, G. M., Taylor, C., Kernohan, J. C., and Cohen, P. (1975). Debranching enzyme from rabbit skeletal muscle: Evidence for the location of two active centers on a single polypeptide chain. FEBS Lett. 58: 181-185.
    • (1975) FEBS Lett. , vol.58 , pp. 181-185
    • Bates, E.J.1    Heaton, G.M.2    Taylor, C.3    Kernohan, J.C.4    Cohen, P.5
  • 5
    • 0000171986 scopus 로고
    • Glycogen storage diseases
    • (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), 7th ed., McGraw-Hill, New York
    • Chen, Y.-T., and Burchell, A. (1995). Glycogen storage diseases. In "The Metabolic and Molecular Bases of Inherited Diseases" (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), 7th ed., pp. 935-965, McGraw-Hill, New York.
    • (1995) The Metabolic and Molecular Bases of Inherited Diseases , pp. 935-965
    • Chen, Y.-T.1    Burchell, A.2
  • 7
    • 0025070103 scopus 로고
    • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III
    • Ding, J.-H., de Barsy, Th., Brown, B. I., Coleman, R. A., Chen, Y.-T. (1990). Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. J. Pediatr. 116: 95-100.
    • (1990) J. Pediatr. , vol.116 , pp. 95-100
    • Ding, J.-H.1    De Barsy, T.2    Brown, B.I.3    Coleman, R.A.4    Chen, Y.-T.5
  • 8
    • 0028935061 scopus 로고
    • Acetylcholine receptor gene expression at the developing neuromuscular junction
    • Duelert, A., and Changeux, J.-P. (1995). Acetylcholine receptor gene expression at the developing neuromuscular junction. Physiol. Rev. 75: 339-368.
    • (1995) Physiol. Rev. , vol.75 , pp. 339-368
    • Duelert, A.1    Changeux, J.-P.2
  • 10
    • 0015502010 scopus 로고
    • Preparation and properties of the glycogen-debranching enzyme from rabbit liver
    • Gordon, R. B., Brown, D. H., and Brown, B. I. (1972). Preparation and properties of the glycogen-debranching enzyme from rabbit liver. Biochem. Biophys. Acta 289: 97-107.
    • (1972) Biochem. Biophys. Acta , vol.289 , pp. 97-107
    • Gordon, R.B.1    Brown, D.H.2    Brown, B.I.3
  • 11
    • 0026065750 scopus 로고
    • Cell-type specific activity of two glucocorticoid responsive units of rat tyrosine aminotransferase gene is associated with multiple binding sites for C/EBP and a novel liver-specific nuclear factor
    • Grange, T., Roux, J., Rigaud, G., and Pictet, R. (1990). Cell-type specific activity of two glucocorticoid responsive units of rat tyrosine aminotransferase gene is associated with multiple binding sites for C/EBP and a novel liver-specific nuclear factor. Nucleic Acids Res. 19: 131-139.
    • (1990) Nucleic Acids Res. , vol.19 , pp. 131-139
    • Grange, T.1    Roux, J.2    Rigaud, G.3    Pictet, R.4
  • 14
    • 0020050314 scopus 로고
    • A catalogue of splice junction sequences
    • Mount, S. M. (1982). A catalogue of splice junction sequences. Nucleic Acids Res. 10: 459-472.
    • (1982) Nucleic Acids Res. , vol.10 , pp. 459-472
    • Mount, S.M.1
  • 15
    • 0025784603 scopus 로고
    • Transcription factors nuclear factor I and Sp1 interact with the murine collagen α1(I) promoter
    • Nehls, M. C., Rippe, R. A., Veloz, L., and Brenner, D. A. (1991). Transcription factors nuclear factor I and Sp1 interact with the murine collagen α1(I) promoter. Mol. Cell. Biol. 11: 4065-4073.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 4065-4073
    • Nehls, M.C.1    Rippe, R.A.2    Veloz, L.3    Brenner, D.A.4
  • 16
    • 0025120750 scopus 로고
    • MyoD family: A paradigm for development?
    • Olson, E. N. (1990). MyoD family: A paradigm for development? Genes Dev. 4: 1454-1461.
    • (1990) Genes Dev. , vol.4 , pp. 1454-1461
    • Olson, E.N.1
  • 20
    • 0023651307 scopus 로고
    • RNA splice junction of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro, M. B., and Senapathy, P. (1987). RNA splice junction of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res. 15: 7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 21
    • 0011374376 scopus 로고    scopus 로고
    • A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with GSD type IIIa
    • In press
    • Shen, J.-J., Bao, Y., Chen, Y.-T. (1996a). A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with GSD type IIIa. Hum. Mutat. 8: In press.
    • (1996) Hum. Mutat. , vol.8
    • Shen, J.-J.1    Bao, Y.2    Chen, Y.-T.3
  • 22
    • 0030054818 scopus 로고    scopus 로고
    • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
    • Shen, J.-J., Bao, Y., Lui, H.-M., Lee, P., Leonard, J. V., and Chen, Y.-T. (1996b). Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J. Clin. Invest. 98: 352-357.
    • (1996) J. Clin. Invest. , vol.98 , pp. 352-357
    • Shen, J.-J.1    Bao, Y.2    Lui, H.-M.3    Lee, P.4    Leonard, J.V.5    Chen, Y.-T.6
  • 23
  • 24
    • 0014140342 scopus 로고
    • The subgroups of type III glycogenosis
    • Van Hoof, F., and Hers, H. G. (1967). The subgroups of type III glycogenosis. Eur. J. Biochem. 2: 265-270.
    • (1967) Eur. J. Biochem. , vol.2 , pp. 265-270
    • Van Hoof, F.1    Hers, H.G.2
  • 25
    • 0016298901 scopus 로고
    • Re-evaluation of the subunit structure and molecular weight of rabbit muscle amylo-1,6-glucosidase/4-α-glucanotransferase
    • White, R. C., and Nelson, T. E. (1974). Re-evaluation of the subunit structure and molecular weight of rabbit muscle amylo-1,6-glucosidase/4-α-glucanotransferase. Biochem. Biophys. Acta 365: 274-280.
    • (1974) Biochem. Biophys. Acta , vol.365 , pp. 274-280
    • White, R.C.1    Nelson, T.E.2
  • 26
    • 0026804629 scopus 로고
    • Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme
    • Yang, B.-Z., Ding, J.-H., Enghild, J. J., Bao, Y., and Chen, Y.-T. (1992). Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. J. Biol. Chem. 267: 9294-9299.
    • (1992) J. Biol. Chem. , vol.267 , pp. 9294-9299
    • Yang, B.-Z.1    Ding, J.-H.2    Enghild, J.J.3    Bao, Y.4    Chen, Y.-T.5
  • 27
    • 0026697801 scopus 로고
    • Assignment of the human glycogen debrancher gene to chromosome 1p21
    • Yang-Feng, T. L., Zheng, K., Yu, J., Yang, B.-Z., Chen, Y.-T., and Kao, F.-T. (1992). Assignment of the human glycogen debrancher gene to chromosome 1p21. Genomics 13: 931-934.
    • (1992) Genomics , vol.13 , pp. 931-934
    • Yang-Feng, T.L.1    Zheng, K.2    Yu, J.3    Yang, B.-Z.4    Chen, Y.-T.5    Kao, F.-T.6


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