메뉴 건너뛰기




Volumn 7, Issue 13, 1996, Pages 1587-1593

Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; CYTOKINE; DOPAMINE; DYSPROPTERIN; NEOPTERIN; NEUROTRANSMITTER; PHENYLALANINE; SEROTONIN; SYNTHETASE;

EID: 0029761943     PISSN: 10430342     EISSN: None     Source Type: Journal    
DOI: 10.1089/hum.1996.7.13-1587     Document Type: Article
Times cited : (7)

References (33)
  • 3
    • 0024146421 scopus 로고
    • Inborn errors of pterin metabolism
    • BLAU, N. (1988). Inborn errors of pterin metabolism. Annu. Rev. Nutr. 8, 185-209.
    • (1988) Annu. Rev. Nutr. , vol.8 , pp. 185-209
    • Blau, N.1
  • 4
    • 0002756708 scopus 로고
    • Tetrahydrobiopterin deficiency: From phenotype to genotype
    • BLAU, N., THÖNY, B., HEIZMANN, C.W., and DHONDT, J.L. (1993). Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4, 1-10.
    • (1993) Pteridines , vol.4 , pp. 1-10
    • Blau, N.1    Thöny, B.2    Heizmann, C.W.3    Dhondt, J.L.4
  • 5
    • 0028937931 scopus 로고
    • A missense mutation in a patient with GTP cyclohydrolase I deficiency missed in the newborn screening program
    • BLAU, N., ICHINOSE, H., NAGATSU, T., HEIZMANN, C.W., ZACCHELLO, F., and BURLINA, A.B. (1995). A missense mutation in a patient with GTP cyclohydrolase I deficiency missed in the newborn screening program. J. Pediatrics 126, 401-405.
    • (1995) J. Pediatrics , vol.126 , pp. 401-405
    • Blau, N.1    Ichinose, H.2    Nagatsu, T.3    Heizmann, C.W.4    Zacchello, F.5    Burlina, A.B.6
  • 6
    • 0029962924 scopus 로고    scopus 로고
    • International database of tetrahydrobiopterin deficiencies
    • BLAU, N., BARNES, I., and DHONDT, J.L. (1996). International database of tetrahydrobiopterin deficiencies. J. Inner. Metab. Dis. 19, 8-14.
    • (1996) J. Inner. Metab. Dis. , vol.19 , pp. 8-14
    • Blau, N.1    Barnes, I.2    Dhondt, J.L.3
  • 7
    • 0027407572 scopus 로고
    • Recent advances in retrovirus vector technology
    • BORIS-LAWRIE, K.A. and TEMIN, H.M. (1993). Recent advances in retrovirus vector technology. Curr. Opin. Genet. Dev. 3, 102-109.
    • (1993) Curr. Opin. Genet. Dev. , vol.3 , pp. 102-109
    • Boris-Lawrie, K.A.1    Temin, H.M.2
  • 8
    • 0028971611 scopus 로고
    • 6-Pyruvoyl-tetrahydropterin synthase: An enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic motif
    • BÜRGISSER, D., THÖNY, B., REDWEIK, U., HESS, D., HEIZMANN, C.W., HUBER, R., and NAR, H. (1995). 6-Pyruvoyl-tetrahydropterin synthase: an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic motif. J. Mol. Biol. 253, 358-369.
    • (1995) J. Mol. Biol. , vol.253 , pp. 358-369
    • Bürgisser, D.1    Thöny, B.2    Redweik, U.3    Hess, D.4    Heizmann, C.W.5    Huber, R.6    Nar, H.7
  • 11
    • 0023218025 scopus 로고
    • Expression of human class II major histocompatibility complex antigens using retrovirus vectors
    • KORMAN, A.J., FRANTZ, J.D., STROMINGER, J.L., and MULLIGAN, R.C. (1987). Expression of human class II major histocompatibility complex antigens using retrovirus vectors. Proc. Natl. Acad. Sci. USA 84, 2150-2154.
    • (1987) Proc. Natl. Acad. Sci. USA , vol.84 , pp. 2150-2154
    • Korman, A.J.1    Frantz, J.D.2    Strominger, J.L.3    Mulligan, R.C.4
  • 13
    • 0028305243 scopus 로고
    • Encapsulated genetically engineered fibroblasts: Release of nerve growth factor and effects in vivo on recovery of cholinergic markers after devascularizing cortical lesions
    • MAYSINGER, D., PICCARDO, P., LIBERINI, P., JALSENJAK, I. and CUELLO, A.C. (1994). Encapsulated genetically engineered fibroblasts: release of nerve growth factor and effects in vivo on recovery of cholinergic markers after devascularizing cortical lesions. Neurochem. Int. 24, 495-503.
    • (1994) Neurochem. Int. , vol.24 , pp. 495-503
    • Maysinger, D.1    Piccardo, P.2    Liberini, P.3    Jalsenjak, I.4    Cuello, A.C.5
  • 15
    • 0022767368 scopus 로고
    • Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production
    • MILLER, A.D., and BUTTIMORE, C. (1986). Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production. Mol. Cell. Biol. 6, 2895-2902.
    • (1986) Mol. Cell. Biol. , vol.6 , pp. 2895-2902
    • Miller, A.D.1    Buttimore, C.2
  • 16
    • 0027369306 scopus 로고
    • Tetrahydribiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts
    • MILSTIEN, S., KAUFMAN, S., and SAKAI, N. (1993). Tetrahydribiopterin biosynthesis defects examined in cytokine-stimulated fibroblasts. J. Inherit. Metab. Dis. 16, 975-981.
    • (1993) J. Inherit. Metab. Dis. , vol.16 , pp. 975-981
    • Milstien, S.1    Kaufman, S.2    Sakai, N.3
  • 17
    • 0027231473 scopus 로고
    • Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts
    • MOUILLER, P., BOHL, D., HEARD, J.-M., and DANOS, O. (1993). Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts. Nature Genet. 4, 154-159.
    • (1993) Nature Genet. , vol.4 , pp. 154-159
    • Mouiller, P.1    Bohl, D.2    Heard, J.-M.3    Danos, O.4
  • 18
    • 0021891891 scopus 로고
    • Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin
    • NICHOL, C.A., SMITH, G.K., and DUCH, D.S. (1985). Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin. Annu. Rev. Biochem. 54, 729-764.
    • (1985) Annu. Rev. Biochem. , vol.54 , pp. 729-764
    • Nichol, C.A.1    Smith, G.K.2    Duch, D.S.3
  • 19
    • 0021287787 scopus 로고
    • High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins
    • NIEDERWIESER, A., STAUDENMANN, W., and WETZEL, E. (1984). High-performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins. J. Chromatogr. 290, 237-246.
    • (1984) J. Chromatogr. , vol.290 , pp. 237-246
    • Niederwieser, A.1    Staudenmann, W.2    Wetzel, E.3
  • 21
    • 0029639819 scopus 로고
    • Structural and functional consequences of mutations in 6-pyruvoyl-tetrahydropterin synthase causing hyperphenylalaninemia in humans: Phosphorylation is a requirement for in vivo activity
    • OPPLIGER, T., THÖNY, B., NAR, H., BÜRGISSER, D., HUBER, R., HEIZMANN, C.W., and BLAU, N. (1995b). Structural and functional consequences of mutations in 6-pyruvoyl-tetrahydropterin synthase causing hyperphenylalaninemia in humans: Phosphorylation is a requirement for in vivo activity. J. Biol. Chem. 270, 29498-29506.
    • (1995) J. Biol. Chem. , vol.270 , pp. 29498-29506
    • Oppliger, T.1    Thöny, B.2    Nar, H.3    Bürgisser, D.4    Huber, R.5    Heizmann, C.W.6    Blau, N.7
  • 22
    • 0027236954 scopus 로고
    • Production of high-liter helper-free retrovirus by transient transfection
    • PEAR, W.S., NOLAN, G.P., SCOTT, M.L., and BALTIMORE, D. (1993). Production of high-liter helper-free retrovirus by transient transfection. Proc. Natl. Acad. Sci. USA 90, 8392-8396.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 8392-8396
    • Pear, W.S.1    Nolan, G.P.2    Scott, M.L.3    Baltimore, D.4
  • 23
    • 0011286643 scopus 로고
    • Lineage analysis in the vertebrate nervous system be retrovirus-mediated gene transfer
    • PRICE, J., TURNER, D., and CEPKO, C. (1987). Lineage analysis in the vertebrate nervous system be retrovirus-mediated gene transfer. Proc. Natl. Acad. Sci. USA 84, 156-160.
    • (1987) Proc. Natl. Acad. Sci. USA , vol.84 , pp. 156-160
    • Price, J.1    Turner, D.2    Cepko, C.3
  • 25
    • 0023200010 scopus 로고
    • Hyperphenylalaninemia sue to deficiency of 6-pyruvoyl tetrahydropterin synthase
    • SCRIVER, C.R., CLOW, C.L., KAPLAN, P., and NIEDERWIESER, A. (1987). Hyperphenylalaninemia sue to deficiency of 6-pyruvoyl tetrahydropterin synthase. Hum. Genet. 77, 168-171.
    • (1987) Hum. Genet. , vol.77 , pp. 168-171
    • Scriver, C.R.1    Clow, C.L.2    Kaplan, P.3    Niederwieser, A.4
  • 27
    • 0023853595 scopus 로고
    • Tetrahydrobiopterin deficiency: Assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers
    • SHINTAKU, H., NIEDERWIESER, A., LEIMBACHER, W., and CURTIUS, H.-C. (1988). Tetrahydrobiopterin deficiency: Assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. Eur. J. Pediatr. 147, 15-19.
    • (1988) Eur. J. Pediatr. , vol.147 , pp. 15-19
    • Shintaku, H.1    Niederwieser, A.2    Leimbacher, W.3    Curtius, H.-C.4
  • 28
    • 0022885121 scopus 로고
    • Biosynthesis of tetrahydrobiopterin: Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver
    • TAKIKAWA, S.I., CURTIUS, H.-C., REDWEIK, U., LEIMBACHER, W., and GHISLA, S. (1986). Biosynthesis of tetrahydrobiopterin: purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver. Eur. J. Biochem. 161, 295-302.
    • (1986) Eur. J. Biochem. , vol.161 , pp. 295-302
    • Takikawa, S.I.1    Curtius, H.-C.2    Redweik, U.3    Leimbacher, W.4    Ghisla, S.5
  • 29
    • 0027055974 scopus 로고
    • Human 6-pyruvoyl-tetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme
    • THÖNY, B., LEIMBACHER, W., BÜRGISSER, D., and HEIZMANN, C.W. (1992). Human 6-pyruvoyl-tetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem. Biophys. Res. Commun. 189, 1437-1443.
    • (1992) Biochem. Biophys. Res. Commun. , vol.189 , pp. 1437-1443
    • Thöny, B.1    Leimbacher, W.2    Bürgisser, D.3    Heizmann, C.W.4
  • 30
    • 0028012821 scopus 로고
    • Chromosomal location of two human genes encoding tetrahydrobiopterin metabolizing enzymes: 6-Pyruvoyl-tetrahydropterin synthase maps to 11q22.3-23.3, and pterin-4α-carbinolamine dehydratase maps to 10q22
    • THÖNY, B., HEIZMANN, C.W., and MATTEI, M.-G. (1994a). Chromosomal location of two human genes encoding tetrahydrobiopterin metabolizing enzymes: 6-Pyruvoyl-tetrahydropterin synthase maps to 11q22.3-23.3, and pterin-4α-carbinolamine dehydratase maps to 10q22. Genomics 19, 365-368.
    • (1994) Genomics , vol.19 , pp. 365-368
    • Thöny, B.1    Heizmann, C.W.2    Mattei, M.-G.3
  • 31
    • 0028280353 scopus 로고
    • Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: Molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthease
    • THÖNY, B., LEIMBACHER, W., BLAU, N., HARVIE, A., and HEIZMANN, C.W. (1994b). Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthease. Am. J. Hum. Genet. 54, 782-792.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 782-792
    • Thöny, B.1    Leimbacher, W.2    Blau, N.3    Harvie, A.4    Heizmann, C.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.