메뉴 건너뛰기




Volumn 47, Issue 2, 2000, Pages 365-369

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

Author keywords

Expression analysis; Hyperphenylalaninemia; Mutation; Phenylalanine hydroxylase

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; RECOMBINANT PROTEIN;

EID: 0034575894     PISSN: 0001527X     EISSN: None     Source Type: Journal    
DOI: 10.18388/abp.2000_4016     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0031127171 scopus 로고    scopus 로고
    • The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency
    • Koch, R., Fishier, K., Azen, C., Gouldberg, P. & Guttler, F. (1997) The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem. Mol. Med. 60, 92-101.
    • (1997) Biochem. Mol. Med. , vol.60 , pp. 92-101
    • Koch, R.1    Fishier, K.2    Azen, C.3    Gouldberg, P.4    Guttler, F.5
  • 2
    • 0029870179 scopus 로고    scopus 로고
    • Molecular basis of phenylketonuria and correlation between genotype and phenotype in heterogeneous southeastern US population
    • Eisensmith, R.C., Martinez, B.S., Kuzmin, A.I., Goltsov, A.A., Brown, A., Singh, R., Elssas, L.J. & Woo, S.L.C. (1996) Molecular basis of phenylketonuria and correlation between genotype and phenotype in heterogeneous southeastern US population. Pediatrics 97, 512-516.
    • (1996) Pediatrics , vol.97 , pp. 512-516
    • Eisensmith, R.C.1    Martinez, B.S.2    Kuzmin, A.I.3    Goltsov, A.A.4    Brown, A.5    Singh, R.6    Elssas, L.J.7    Woo, S.L.C.8
  • 6
    • 0031977420 scopus 로고    scopus 로고
    • Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations
    • De Lucca, M., Perez, B., Desviat, L.R. & Ugarte, M. (1998) Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations. Human Mutat. 11, 354-359.
    • (1998) Human Mutat. , vol.11 , pp. 354-359
    • De Lucca, M.1    Perez, B.2    Desviat, L.R.3    Ugarte, M.4
  • 7
    • 0028901398 scopus 로고
    • Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases
    • Martinez, A., Knappskog, P.M., Olafdotti, S., Doskeland, A.P., Eiken, H.G., Svebak, R.M., Bozzini, M., Apold, J. & Flatmark, T. (1995) Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Biochem. J. 306, 589-597.
    • (1995) Biochem. J. , vol.306 , pp. 589-597
    • Martinez, A.1    Knappskog, P.M.2    Olafdotti, S.3    Doskeland, A.P.4    Eiken, H.G.5    Svebak, R.M.6    Bozzini, M.7    Apold, J.8    Flatmark, T.9
  • 8
    • 0028941116 scopus 로고
    • Expression analysis of mutation P244L which cause mild hyperphenylalaninemia
    • Perez, B., Desviat, L.R. & Ugarte, M. (1995) Expression analysis of mutation P244L which cause mild hyperphenylalaninemia. Hum. Mutat. 5, 188-190.
    • (1995) Hum. Mutat. , vol.5 , pp. 188-190
    • Perez, B.1    Desviat, L.R.2    Ugarte, M.3
  • 9
    • 0029932011 scopus 로고    scopus 로고
    • Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity
    • Desviat, L.R., Perez, B. & Ugarte, M. (1996) Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity. J. Inher. Metab. Dis. 19, 227-230.
    • (1996) J. Inher. Metab. Dis. , vol.19 , pp. 227-230
    • Desviat, L.R.1    Perez, B.2    Ugarte, M.3
  • 10
    • 0029796673 scopus 로고    scopus 로고
    • A pKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems
    • Knappskog, P.M., Eiken, H.G., Martinez, A., Bruland, O., Apold, J. & Flatmark, T. (1996) A PKU mutation (D143G) associated with an apparent high residual enzyme activity: Expression of a kinetic variant form of phenylalanine hydroxylase in three different systems. Hum. Mutat. 8, 236-246.
    • (1996) Hum. Mutat. , vol.8 , pp. 236-246
    • Knappskog, P.M.1    Eiken, H.G.2    Martinez, A.3    Bruland, O.4    Apold, J.5    Flatmark, T.6
  • 11
    • 0031472356 scopus 로고    scopus 로고
    • Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations
    • Kayaalp, E., Treacy, E., Waters, P.J., Byck, S., Nowacki, P. & Scriver, C.R. (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61, 1309-1317.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 1309-1317
    • Kayaalp, E.1    Treacy, E.2    Waters, P.J.3    Byck, S.4    Nowacki, P.5    Scriver, C.R.6
  • 12
    • 0031606734 scopus 로고    scopus 로고
    • In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function
    • Waters, P.J., Parniak, M.A., Nowacki, P. & Scriver, C.R. (1998) In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function. Human Mutat. 11, 4-17.
    • (1998) Human Mutat. , vol.11 , pp. 4-17
    • Waters, P.J.1    Parniak, M.A.2    Nowacki, P.3    Scriver, C.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.