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Volumn 6, Issue 5, 2002, Pages 601-608

Glycogen stored in skeletal but not in cardiac muscle in acid α-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

Author keywords

Acid glocosidase; Knockout; Myopathy; Pompe disease; Transgenic

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; TETRACYCLINE; ALPHA GLUCOSIDASE;

EID: 0036853028     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-0016(02)90716-1     Document Type: Article
Times cited : (62)

References (35)
  • 1
    • 0000995321 scopus 로고    scopus 로고
    • Glycogen storage disease type II: Acid glucosidase (acid maltase) deficiency
    • (C. R. Scriver et al., Eds.), McGraw-Hill, New York
    • Hirschhorn, R., and Reuser, A.J. (2000). Glycogen storage disease type II: acid glucosidase (acid maltase) deficiency. In: The Metabolic and molecular Basis of Inherited Disease (C. R. Scriver et al., Eds.), pp. 3389-3420. McGraw-Hill, New York.
    • (2000) The Metabolic and Molecular Basis of Inherited Disease , pp. 3389-3420
    • Hirschhorn, R.1    Reuser, A.J.2
  • 2
    • 0036086765 scopus 로고    scopus 로고
    • Acid α-glucosidase deficiency (glycogenosis type II, Pompe disease)
    • Raben, N., Plotz, P., and Byrne, B.J. (2002). Acid α-glucosidase deficiency (glycogenosis type II, Pompe disease). Curr. Mol. Med. 2: 145-166.
    • (2002) Curr. Mol. Med , vol.2 , pp. 145-166
    • Raben, N.1    Plotz, P.2    Byrne, B.J.3
  • 3
    • 0025606416 scopus 로고
    • Expression and routeing of human lysosomal α-glucosidase in transiently transfected mammalian cells
    • Hoefsloot, L. H., et al. (1990). Expression and routeing of human lysosomal α-glucosidase in transiently transfected mammalian cells. Biochem. J. 272: 485-492.
    • (1990) Biochem. J , vol.272 , pp. 485-492
    • Hoefsloot, L.H.1
  • 4
    • 0027392113 scopus 로고
    • Structural and functional changes of lysosomal acid α-glucosidase during intracellular transport and maturation
    • Wisselaar, H. A., Kroos, M. A., Hermans, M. M., van Beeumen, J., and Reuser, A.J. (1993). Structural and functional changes of lysosomal acid α-glucosidase during intracellular transport and maturation. J. Biol. Chem. 268: 2223-2231.
    • (1993) J. Biol. Chem , vol.268 , pp. 2223-2231
    • Wisselaar, H.A.1    Kroos, M.A.2    Hermans, M.M.3    van Beeumen, J.4    Reuser, A.J.5
  • 6
    • 0026637316 scopus 로고
    • Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors
    • Kornfeld, S. (1992). Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors. Annu. Rev. Biochem. 61: 307-330.
    • (1992) Annu. Rev. Biochem , vol.61 , pp. 307-330
    • Kornfeld, S.1
  • 7
    • 0032516810 scopus 로고    scopus 로고
    • Protein transport from the secretory to the endocytic pathway in mammalian cells
    • Le Borgne, R., and Hoflack, B. (1998). Protein transport from the secretory to the endocytic pathway in mammalian cells. Biochim. Biophys. Acta 1404: 195-209.
    • (1998) Biochim. Biophys. Acta , vol.1404 , pp. 195-209
    • Le Borgne, R.1    Hoflack, B.2
  • 8
    • 0037166331 scopus 로고    scopus 로고
    • Interaction of the cation-dependent mannose 6-phosphate receptor with GGA proteins
    • Doray, B., Bruns, K., Ghosh, P., and Kornfeld, S. (2002). Interaction of the cation-dependent mannose 6-phosphate receptor with GGA proteins. J. Biol. Chem. 277: 18477-18482.
    • (2002) J. Biol. Chem , vol.277 , pp. 18477-18482
    • Doray, B.1    Bruns, K.2    Ghosh, P.3    Kornfeld, S.4
  • 9
    • 0035369692 scopus 로고    scopus 로고
    • Binding of GGA2 to the lysosomal enzyme sorting motif of the mannose 6-phosphate receptor
    • Zhu, Y., Doray, B., Poussu, A., Lehto, V.P., and Kornfeld, S. (2001). Binding of GGA2 to the lysosomal enzyme sorting motif of the mannose 6-phosphate receptor. Science 292: 1716-1718.
    • (2001) Science , vol.292 , pp. 1716-1718
    • Zhu, Y.1    Doray, B.2    Poussu, A.3    Lehto, V.P.4    Kornfeld, S.5
  • 10
    • 0035009304 scopus 로고    scopus 로고
    • Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk
    • Van den Hout, H. H., et al. (2001). Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk. J. Inherit. Metab. dis. 24: 266-274.
    • (2001) J. Inherit. Metab. Dis , vol.24 , pp. 266-274
    • Van den Hout, H.H.1
  • 11
    • 0034729963 scopus 로고    scopus 로고
    • Recombinant human α-glucosidase from rabbit milk in Pompe patients
    • Van den Hout, H. H., et al. (2000). Recombinant human α-glucosidase from rabbit milk in Pompe patients. Lancet 356: 397-398.
    • (2000) Lancet , vol.356 , pp. 397-398
    • Van den Hout, H.H.1
  • 12
    • 0035746540 scopus 로고    scopus 로고
    • Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
    • Amalfitano, A., et al. (2001). Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet. Med. 3: 132-138.
    • (2001) Genet. Med , vol.3 , pp. 132-138
    • Amalfitano, A.1
  • 13
    • 0035811624 scopus 로고    scopus 로고
    • Safety and efficacy of recombination human α-galactosidase A - Replacement therapy in Fabry's disease
    • Eng, C. M., et al. (2001). Safety and efficacy of recombination human α-galactosidase A - replacement therapy in Fabry's disease. N. Engl. J. 345: 9-16.
    • (2001) N. Engl. J , vol.345 , pp. 9-16
    • Eng, C.M.1
  • 14
    • 0035816007 scopus 로고    scopus 로고
    • Enzyme replacement therapy in Fabry disease: A randomized controlled trial
    • Schiffmann, R., et al. (2001). Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285: 2743-2749.
    • (2001) JAMA , vol.285 , pp. 2743-2749
    • Schiffmann, R.1
  • 15
    • 0035905889 scopus 로고    scopus 로고
    • Enzyme-replacement therapy in mucopolysaccharidosis I
    • Kakkis, E. D., et al. (2001). Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 344: 182-188.
    • (2001) N. Engl. J. Med , vol.344 , pp. 182-188
    • Kakkis, E.D.1
  • 16
    • 0033810516 scopus 로고    scopus 로고
    • Infusion of recombinant human acid sphingomylinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology
    • Miranda, S. R., et al. (2000). Infusion of recombinant human acid sphingomylinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J. 14: 1988-1995.
    • (2000) FASEB J , vol.14 , pp. 1988-1995
    • Miranda, S.R.1
  • 17
    • 0034112722 scopus 로고    scopus 로고
    • Enzyme replacement therapy in mucopolysaccharidosis I: Altered distribution and targeting of α-L-induronidase in immunized rats
    • Turner, C. T., Hopwood, J. JU., and Brooks, D. A. (2000). Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of α-L-induronidase in immunized rats. Mol. Genet. Metab. 69: 277-285.
    • (2000) Mol. Genet. Metab , vol.69 , pp. 277-285
    • Turner, C.T.1    Hopwood, J.J.2    Brooks, D.A.3
  • 18
    • 0030069717 scopus 로고    scopus 로고
    • High-level production of recombinant human lysosomal acid α-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease
    • Van Hove, J. L., Yang, H. W., Wu, J. Y., Brady, R. O., and Chen, Y. T. (1996). High-level production of recombinant human lysosomal acid α-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease. Proc. Natl. Acad. Sci. USA 93: 65-70.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 65-70
    • Van Hove, J.L.1    Yang, H.W.2    Wu, J.Y.3    Brady, R.O.4    Chen, Y.T.5
  • 19
    • 0031716741 scopus 로고    scopus 로고
    • Recombinant human acid α-glucosidase: High level production in mouse milk, biochemical characteristics, and correction of enzyme deficiency in GSDII KO mice
    • Bijvoet, A. G., et al. (1998). Recombinant human acid α-glucosidase: high level production in mouse milk, biochemical characteristics, and correction of enzyme deficiency in GSDII KO mice. Hum. Mol. Genet. 7: 1815-1824.
    • (1998) Hum. Mol. Genet , vol.7 , pp. 1815-1824
    • Bijvoet, A.G.1
  • 20
    • 0032698194 scopus 로고    scopus 로고
    • Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
    • Bijvoet, A. G., et al. (1999). Human acid α-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum. Mol. Genet. 8: 2145-2153.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 2145-2153
    • Bijvoet, A.G.1
  • 21
    • 0032519686 scopus 로고    scopus 로고
    • Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail
    • Kikuchi, T., et al. (1998). Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase-deficient quail. J. Clin. Invest. 101: 827-833.
    • (1998) J. Clin. Invest , vol.101 , pp. 827-833
    • Kikuchi, T.1
  • 22
    • 0025826050 scopus 로고
    • Lysosomal storage diseases
    • Neufeld, E.F. (1991). Lysosomal storage diseases. Annu. Rev. Biochem. 60: 257-280.
    • (1991) Annu. Rev. Biochem , vol.60 , pp. 257-280
    • Neufeld, E.F.1
  • 23
    • 0029011224 scopus 로고
    • Glycogenosis type II (acid maltase deficiency)
    • Reuser, A. J., et al. (1995). Glycogenosis type II (acid maltase deficiency). Muscle Nerve 35: 61-69.
    • (1995) Muscle Nerve , vol.35 , pp. 61-69
    • Reuser, A.J.1
  • 24
    • 0028071115 scopus 로고
    • Temporal control of gene expression in transgenic mice by a tetracycline-responsive promoter
    • Furth, P. A., et al. (1994). Temporal control of gene expression in transgenic mice by a tetracycline-responsive promoter. Proc. Natl. Acad. Sci. USA 91: 9302-9306.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 9302-9306
    • Furth, P.A.1
  • 25
    • 0029763587 scopus 로고    scopus 로고
    • Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice
    • Kistner, A., et al. (1996). Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice. Proc. Natl. Acad. Sci. USA 93: 10933-10938.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 10933-10938
    • Kistner, A.1
  • 26
    • 0034772350 scopus 로고    scopus 로고
    • Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: Implications for therapy
    • Raben, N., et al. (2001). Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum. Mol. Genet. 10: 2093-2147.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 2093-2147
    • Raben, N.1
  • 27
    • 85031350178 scopus 로고    scopus 로고
    • A new approach to generate mice tolerant to recombinant human proteins
    • Abstract 2900
    • Raben, N., et al. (2001). A new approach to generate mice tolerant to recombinant human proteins. Am. J. Hum. Genet. 695(4), Abstract 2900.
    • (2001) Am. J. Hum. Genet , vol.69 S , Issue.4
    • Raben, N.1
  • 28
    • 0029816480 scopus 로고    scopus 로고
    • Conditional transgene expression in the heart
    • Yu, Z., Redfren, C. S., and Fishman, G. I. (1996). Conditional transgene expression in the heart. Circ. Res. 79: 691-697.
    • (1996) Circ. Res , vol.79 , pp. 691-697
    • Yu, Z.1    Redfren, C.S.2    Fishman, G.I.3
  • 29
    • 0034308264 scopus 로고    scopus 로고
    • Phenotypic expression of late-onset glycogen storage disease type II: Identification of asymptomatic adults through family studies and review of reported families
    • Ausems, M.G., Berg, K., Beemer, F.A., and Wokke, J.H. (2000). Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families. Neuromuscul. Disord. 10: 467-471.
    • (2000) Neuromuscul. Disord , vol.10 , pp. 467-471
    • Ausems, M.G.1    Berg, K.2    Beemer, F.A.3    Wokke, J.H.4
  • 30
    • 0036083829 scopus 로고    scopus 로고
    • Rab proteins mediate Golgi transport of calveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells
    • Simons, K., and Gruenberg, J. (2002). Rab proteins mediate Golgi transport of calveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J. Clin. Invest. 109: 1541-1550.
    • (2002) J. Clin. Invest , vol.109 , pp. 1541-1550
    • Simons, K.1    Gruenberg, J.2
  • 31
    • 0036083829 scopus 로고    scopus 로고
    • Rab proteins mediate Golgi transport of calveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells
    • Choudhury, A., et al. (2002). Rab proteins mediate Golgi transport of calveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J. Clin. Invest. 109: 1541-1550.
    • (2002) J. Clin. Invest , vol.109 , pp. 1541-1550
    • Choudhury, A.1
  • 32
    • 14444274334 scopus 로고    scopus 로고
    • Targeted disruption of the acid α-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II
    • Raben, N., et al. (1998). Targeted disruption of the acid α-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J. Biol. Chem. 273: 19086-19092.
    • (1998) J. Biol. Chem , vol.273 , pp. 19086-19092
    • Raben, N.1
  • 33
    • 0034212319 scopus 로고    scopus 로고
    • Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene
    • Raben, N., Nagaraju, K., Lee, E., and Plotz, P. (2000). Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene. Neuromuscul. Disord. 10: 283-291.
    • (2000) Neuromuscul. Disord , vol.10 , pp. 283-291
    • Raben, N.1    Nagaraju, K.2    Lee, E.3    Plotz, P.4
  • 34
    • 0031670642 scopus 로고    scopus 로고
    • Highly controlled gene expression using combinations of a tissue-specific promoter, recombinant adenovirus and a tetracycline-regulatable transcription factor
    • Ghersa, P., et al. (1998). Highly controlled gene expression using combinations of a tissue-specific promoter, recombinant adenovirus and a tetracycline-regulatable transcription factor. Gene Ther. 5: 1213-1220.
    • (1998) Gene Ther , vol.5 , pp. 1213-1220
    • Ghersa, P.1
  • 35
    • 0025866164 scopus 로고
    • Human lysosomal α-glucosidase. Characterization of the catalytic sute
    • Hermans, M. M., Kroos, M. A., van Beeumen, J., Oostra, B. A., and Reuser, A.J. (1991). Human lysosomal α-glucosidase. Characterization of the catalytic sute. J. Biol. Chem. 266: 13507-13512.
    • (1991) J. Biol. Chem , vol.266 , pp. 13507-13512
    • Hermans, M.M.1    Kroos, M.A.2    van Beeumen, J.3    Oostra, B.A.4    Reuser, A.J.5


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