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Volumn 6, Issue 6, 2000, Pages 245-251

Towards a molecular therapy for glycogen storage disease type II (Pompe disease)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE;

EID: 0034212568     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(00)01694-4     Document Type: Review
Times cited : (42)

References (41)
  • 1
    • 0001448360 scopus 로고
    • Glycogen storage disease type II: Acid α-glucosidase (acid maltase) deficiency
    • C.R. et al. Scriver. McGraw-Hill
    • Hirschhorn R. Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. Scriver C.R.et al. The Metabolic and Molecular Basis of Inherited Disease. 1995;2443-2464 McGraw-Hill.
    • (1995) The Metabolic and Molecular Basis of Inherited Disease , pp. 2443-2464
    • Hirschhorn, R.1
  • 2
    • 0029011224 scopus 로고
    • Glycogenosis type II (acid maltase deficiency)
    • Reuser A.J.J.et al. Glycogenosis type II (acid maltase deficiency). Muscle Nerve. 3(Suppl.):1995;S61-S69.
    • (1995) Muscle Nerve , vol.3 , Issue.SUPPL.
    • Reuser, A.J.J.1
  • 3
    • 0029062275 scopus 로고
    • Genetic defects in patients with glycogenosis type II (acid maltase deficiency)
    • Raben N.et al. Genetic defects in patients with glycogenosis type II (acid maltase deficiency). Muscle Nerve. 3:1995;570-574.
    • (1995) Muscle Nerve , vol.3 , pp. 570-574
    • Raben, N.1
  • 4
    • 0031695078 scopus 로고    scopus 로고
    • Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease
    • Martiniuk F.et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am. J. Med. Genet. 79:1998;69-72.
    • (1998) Am. J. Med. Genet. , vol.79 , pp. 69-72
    • Martiniuk, F.1
  • 5
    • 0032848015 scopus 로고    scopus 로고
    • Frequency of glycogen storage disease type II in the Netherlands: Implication for diagnosis and genetic counseling
    • Ausems M.G.et al. Frequency of glycogen storage disease type II in the Netherlands: implication for diagnosis and genetic counseling. Eur. J. Hum. Genet. 7:1999;713.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 713
    • Ausems, M.G.1
  • 6
    • 0015601095 scopus 로고
    • Treatment related observations in solid tissues, fibroblast cultures and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy
    • Hug G.et al. Treatment related observations in solid tissues, fibroblast cultures and amniotic fluid cells of type II glycogenosis, Hurler disease and metachromatic leukodystrophy. Birth Defects Org. Ser. 9:1967;160-183.
    • (1967) Birth Defects Org. Ser. , vol.9 , pp. 160-183
    • Hug, G.1
  • 7
    • 0020679193 scopus 로고
    • Improvement of muscle function in acid maltase deficiency by high protein diet
    • Slonim A.E.et al. Improvement of muscle function in acid maltase deficiency by high protein diet. Neurology. 33:1983;34.
    • (1983) Neurology , vol.33 , pp. 34
    • Slonim, A.E.1
  • 8
    • 0015601143 scopus 로고
    • Enzyme replacement in Pompe disease: An attempt with purified human acid α-glucosidase
    • de Barsy T.et al. Enzyme replacement in Pompe disease: an attempt with purified human acid α-glucosidase. Birth Defects Orig. Art. Ser. 9:1973;184-190.
    • (1973) Birth Defects Orig. Art. Ser. , vol.9 , pp. 184-190
    • De Barsy, T.1
  • 10
    • 0026637316 scopus 로고
    • Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors
    • Kornfeld S. Structure and function of the mannose 6-phosphate/insulin-like growth factor II receptors. Annu. Rev. Biochem. 61:1992;307-330.
    • (1992) Annu. Rev. Biochem. , vol.61 , pp. 307-330
    • Kornfeld, S.1
  • 11
    • 0023784539 scopus 로고
    • Intracellular transport of acid alpha-glucosidase in human fibroblasts: Evidence for involvement of phosphomannosyl receptor-independent system
    • Tsuji A.et al. Intracellular transport of acid alpha-glucosidase in human fibroblasts: Evidence for involvement of phosphomannosyl receptor-independent system. J. Biochem. 104:1988;276-278.
    • (1988) J. Biochem. , vol.104 , pp. 276-278
    • Tsuji, A.1
  • 12
    • 0025236339 scopus 로고
    • Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
    • Barton N.W.et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc. Natl. Acad. Sci. U. S. A. 87:1990;1913-1916.
    • (1990) Proc. Natl. Acad. Sci. U. S. A. , vol.87 , pp. 1913-1916
    • Barton, N.W.1
  • 13
    • 0032793110 scopus 로고    scopus 로고
    • Recombinant protein for genetic disease
    • Russell C.S., Clark L. Recombinant protein for genetic disease. Clin. Genet. 55:1999;389-390.
    • (1999) Clin. Genet. , vol.55 , pp. 389-390
    • Russell, C.S.1    Clark, L.2
  • 14
    • 0032737067 scopus 로고    scopus 로고
    • Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models
    • Brooks D.A. Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models. Mol. Genet. Metab. 68:1999;268-275.
    • (1999) Mol. Genet. Metab. , vol.68 , pp. 268-275
    • Brooks, D.A.1
  • 15
    • 0002277647 scopus 로고    scopus 로고
    • Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: Results of a human clinical trial
    • Kakkis E.et al. Recombinant α-L-iduronidase replacement therapy in mucopolysaccharidosis I: results of a human clinical trial. Am. J. Hum. Genet. 63:1998;A25.
    • (1998) Am. J. Hum. Genet. , vol.63
    • Kakkis, E.1
  • 16
    • 12944265457 scopus 로고    scopus 로고
    • Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
    • Schiffmann R.et al. Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 97:1999;365-370.
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.97 , pp. 365-370
    • Schiffmann, R.1
  • 17
    • 0031093070 scopus 로고    scopus 로고
    • Enzyme replacement therapy
    • Roth K.S. Enzyme replacement therapy. Clin. Pediatr. 36:1997;147-148.
    • (1997) Clin. Pediatr. , vol.36 , pp. 147-148
    • Roth, K.S.1
  • 18
    • 0026024185 scopus 로고
    • Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice
    • Van der Ploeg A.T.et al. Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J. Clin. Invest. 87:1991;513-518.
    • (1991) J. Clin. Invest. , vol.87 , pp. 513-518
    • Van Der Ploeg, A.T.1
  • 19
    • 0030069717 scopus 로고    scopus 로고
    • High-level production of recombinant human lysosomal acid alpha-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.K.et al. High-level production of recombinant human lysosomal acid alpha-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. U. S. A. 93:1996;65-70.
    • (1996) Proc. Natl. Acad. Sci. U. S. A. , vol.93 , pp. 65-70
    • Van Hove, J.L.K.1
  • 20
    • 0029559330 scopus 로고
    • Isolation and characterization of a recombinant precursor form of lysosomal acid alpha-glucosidase
    • Fuller M.et al. Isolation and characterization of a recombinant precursor form of lysosomal acid alpha-glucosidase. Eur. J. Biochem. 234:1995;903-909.
    • (1995) Eur. J. Biochem. , vol.234 , pp. 903-909
    • Fuller, M.1
  • 21
    • 0031716741 scopus 로고    scopus 로고
    • Recombinant human acid alpha-glucosidase: High level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice
    • Bijvoet A.G.A.et al. Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum. Mol. Genet. 7:1998;1815-1824.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1815-1824
    • Bijvoet, A.G.A.1
  • 22
    • 6844254522 scopus 로고    scopus 로고
    • Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease
    • Bijvoet A.G.A.et al. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum. Mol. Genet. 7:1998;53-62.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 53-62
    • Bijvoet, A.G.A.1
  • 23
    • 14444274334 scopus 로고    scopus 로고
    • Targeted disruption of the acid alpha-glucosidase gene in mice cause an illness with critical features of both infantile and adult human glycogen storage disease type II
    • Raben N.et al. Targeted disruption of the acid alpha-glucosidase gene in mice cause an illness with critical features of both infantile and adult human glycogen storage disease type II. J. Biol. Chem. 273:1998;19086-19092.
    • (1998) J. Biol. Chem. , vol.273 , pp. 19086-19092
    • Raben, N.1
  • 24
    • 0019072734 scopus 로고
    • Glycogenosis II in a Japanese quail
    • Murakami H.et al. Glycogenosis II in a Japanese quail. Exp. Anim. 29:1980;475-485.
    • (1980) Exp. Anim. , vol.29 , pp. 475-485
    • Murakami, H.1
  • 25
    • 0032519686 scopus 로고    scopus 로고
    • Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase deficient quail
    • Kikuchi T.et al. Clinical and metabolic correction of Pompe disease by enzyme therapy in acid maltase deficient quail. J. Clin. Invest. 101:1998;827-833.
    • (1998) J. Clin. Invest. , vol.101 , pp. 827-833
    • Kikuchi, T.1
  • 26
    • 4243354822 scopus 로고    scopus 로고
    • Correction of enzyme deficiency and improved tissue morphology after long term enzyme replacement therapy in GSD-II knockout mice
    • Bijvoet A.G.A.et al. Correction of enzyme deficiency and improved tissue morphology after long term enzyme replacement therapy in GSD-II knockout mice. Am. J. Hum. Genet. 63:1998;A397.
    • (1998) Am. J. Hum. Genet. , vol.63
    • Bijvoet, A.G.A.1
  • 27
    • 0033537836 scopus 로고    scopus 로고
    • Nucleotide exchange in genomic DNA of rat hepatocytes using RNA/DNA oligonucleotides - Targeted delivery of liposomes and polyethyleneimine to the asialoglycoprotein receptor
    • Bandyopadhyay P.et al. Nucleotide exchange in genomic DNA of rat hepatocytes using RNA/DNA oligonucleotides - Targeted delivery of liposomes and polyethyleneimine to the asialoglycoprotein receptor. J. Biol. Chem. 274:1999;10163-10172.
    • (1999) J. Biol. Chem. , vol.274 , pp. 10163-10172
    • Bandyopadhyay, P.1
  • 28
    • 0030669115 scopus 로고    scopus 로고
    • Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion
    • [Hum. Gene Ther. (1998) 9(6):930 erratum]
    • Zaretsky J.Z.et al. Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion. Hum. Gene. Ther. 8:1997;1555-1563. [Hum. Gene Ther. (1998) 9(6):930 erratum].
    • (1997) Hum. Gene. Ther. , vol.8 , pp. 1555-1563
    • Zaretsky, J.Z.1
  • 29
    • 0031689337 scopus 로고    scopus 로고
    • Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation
    • Nicolino M.P.et al. Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation. Hum. Mol. Genet. 7:1998;1695-1702.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1695-1702
    • Nicolino, M.P.1
  • 30
    • 0030865245 scopus 로고    scopus 로고
    • The fate of individual myoblasts after transplantation into muscles of DMD patients
    • Gussoni E.et al. The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat. Med. 3:1997;970-977.
    • (1997) Nat. Med. , vol.3 , pp. 970-977
    • Gussoni, E.1
  • 31
    • 0026922764 scopus 로고
    • Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle
    • Wolff J.A.et al. Long-term persistence of plasmid DNA and foreign gene expression in mouse muscle. Hum. Mol. Genet. 1:1992;363-369.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 363-369
    • Wolff, J.A.1
  • 32
    • 0031942298 scopus 로고    scopus 로고
    • Complete correction of acid alpha-glucosidase deficiency in Pompe-disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle
    • Pauly D.F.et al. Complete correction of acid alpha-glucosidase deficiency in Pompe-disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther. 5:1998;473-480.
    • (1998) Gene Ther. , vol.5 , pp. 473-480
    • Pauly, D.F.1
  • 33
    • 17344368406 scopus 로고    scopus 로고
    • Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency
    • Tsujino S.et al. Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. Hum. Gene Ther. 9:1998;1609-1616.
    • (1998) Hum. Gene Ther. , vol.9 , pp. 1609-1616
    • Tsujino, S.1
  • 34
    • 0032907636 scopus 로고    scopus 로고
    • Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector
    • Greelish J.P.et al. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nat. Med. 5:1999;439-443.
    • (1999) Nat. Med. , vol.5 , pp. 439-443
    • Greelish, J.P.1
  • 35
    • 0032745831 scopus 로고    scopus 로고
    • 2-adrenergic receptor gene delivery
    • 2-adrenergic receptor gene delivery. J. Clin. Invest. 104:1999;21-29.
    • (1999) J. Clin. Invest. , vol.104 , pp. 21-29
    • Maurice, J.P.1
  • 36
    • 0033540652 scopus 로고    scopus 로고
    • Persistence of an [E1-, polymerase-] adenovirus vector despite transduction of a neoantigen into immune-competent mice
    • Hu H.M.et al. Persistence of an [E1-, polymerase-] adenovirus vector despite transduction of a neoantigen into immune-competent mice. Hum. Gene Ther. 10:1999;355-364.
    • (1999) Hum. Gene Ther. , vol.10 , pp. 355-364
    • Hu, H.M.1
  • 37
    • 0033529902 scopus 로고    scopus 로고
    • Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid α-glucosidase
    • Amalfitano A.et al. Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid α-glucosidase. Proc. Natl. Acad. Sci. U. S. A. 96:1999;8861-8866.
    • (1999) Proc. Natl. Acad. Sci. U. S. A. , vol.96 , pp. 8861-8866
    • Amalfitano, A.1
  • 38
    • 0033166317 scopus 로고    scopus 로고
    • Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer
    • Ziegler R.J.et al. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum. Gene Ther. 10:1999;1667-1682.
    • (1999) Hum. Gene Ther. , vol.10 , pp. 1667-1682
    • Ziegler, R.J.1
  • 39
    • 2042538384 scopus 로고    scopus 로고
    • Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice
    • Bittner R.G.et al. Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx mice. Anat. Embryol. 199:1999;391-396.
    • (1999) Anat. Embryol. , vol.199 , pp. 391-396
    • Bittner, R.G.1
  • 40
    • 0032489651 scopus 로고    scopus 로고
    • Muscle regeneration by bone marrow-derived myogenic progenitors
    • Ferrari G.et al. Muscle regeneration by bone marrow-derived myogenic progenitors. Science. 279:1998;1528-1530.
    • (1998) Science , vol.279 , pp. 1528-1530
    • Ferrari, G.1
  • 41
    • 0033598374 scopus 로고    scopus 로고
    • Dystrophin expression in the mdx mouse restored by stem cell transplantation
    • Gussoni E.et al. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 401:1999;390-394.
    • (1999) Nature , vol.401 , pp. 390-394
    • Gussoni, E.1


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