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Volumn 69, Issue 3, 2000, Pages 195-203

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

Author keywords

Genotype; Hyperphenylalaninemia; Phenotype

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MALE; MOLECULAR CLONING; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL;

EID: 0034053978     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.2971     Document Type: Article
Times cited : (17)

References (40)
  • 1
    • 0032839535 scopus 로고    scopus 로고
    • Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues
    • Lichter-Konecki U, Hipke C M, Konecki D S. Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues. Mol Genet Metab. 67:1999;308-316.
    • (1999) Mol Genet Metab , vol.67 , pp. 308-316
    • Lichter-Konecki, U.1    Hipke, C.M.2    Konecki, D.S.3
  • 2
    • 0022550463 scopus 로고
    • Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene
    • DiLella A G, Kwok S CM, Ledley F D, Marvit J, Woo S LC. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene. Biochemistry. 25:1986;743-749.
    • (1986) Biochemistry , vol.25 , pp. 743-749
    • Dilella, A.G.1    Kwok, S.C.2    Ledley, F.D.3    Marvit, J.4    Woo, S.L.5
  • 3
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • Kwok S CM, Ledley F D, DiLella A G, Robson K JH, Woo S LC. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry. 24:1985;556-561.
    • (1985) Biochemistry , vol.24 , pp. 556-561
    • Kwok, S.C.1    Ledley, F.D.2    Dilella, A.G.3    Robson, K.J.4    Woo, S.L.5
  • 4
    • 0022469274 scopus 로고
    • Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
    • DiLella A G, Marvit J, Lidsky A S, Güttler F, Woo S LC. Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria. Nature (London). 322:1986;799-803.
    • (1986) Nature (London) , vol.322 , pp. 799-803
    • Dilella, A.G.1    Marvit, J.2    Lidsky, A.S.3    Güttler, F.4    Woo, S.L.5
  • 5
    • 0026662218 scopus 로고
    • Structural characterization of the 5′ regions of the human phenylalanine hydroxylase gene
    • Konecki D S, Wang Y, Trefz F K, Lichter-Konecki U, Woo S LC. Structural characterization of the 5′ regions of the human phenylalanine hydroxylase gene. Biochemistry. 31:1992;8363-8368.
    • (1992) Biochemistry , vol.31 , pp. 8363-8368
    • Konecki, D.S.1    Wang, Y.2    Trefz, F.K.3    Lichter-Konecki, U.4    Woo, S.L.5
  • 6
    • 0030754908 scopus 로고    scopus 로고
    • The PAH mutation analysis consortium database: Update 1996
    • Nowacki P, Byck S, Prevost L, Scriver C R. The PAH mutation analysis consortium database: update 1996. Nucleic Acids Res. 25:1997;139-142.
    • (1997) Nucleic Acids Res , vol.25 , pp. 139-142
    • Nowacki, P.1    Byck, S.2    Prevost, L.3    Scriver, C.R.4
  • 7
    • 0025862159 scopus 로고
    • The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
    • Konecki D S, Lichter-Konecki U. The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet. 87:1991;377-388.
    • (1991) Hum Genet , vol.87 , pp. 377-388
    • Konecki, D.S.1    Lichter-Konecki, U.2
  • 9
    • 0027164607 scopus 로고
    • Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: An overview
    • Scriver C R, John S MW, Rozen R, Eisensmith R C, Woo S LC. Associations between populations, phenylketonuria mutations and RFLP haplotypes at the phenylalanine hydroxylase locus: An overview. Dev Brain Dysfunct. 6:1993;11-25.
    • (1993) Dev Brain Dysfunct , vol.6 , pp. 11-25
    • Scriver, C.R.1    John, S.M.2    Rozen, R.3    Eisensmith, R.C.4    Woo, S.L.5
  • 11
    • 0023260886 scopus 로고
    • GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria
    • Marvit J, DiLella A G, Brayton K, Ledley F D, Robson K JH, Woo S LC. GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria. Nucleic Acids Res. 15:1987;5613-5628.
    • (1987) Nucleic Acids Res , vol.15 , pp. 5613-5628
    • Marvit, J.1    Dilella, A.G.2    Brayton, K.3    Ledley, F.D.4    Robson, K.J.5    Woo, S.L.6
  • 13
    • 0030008190 scopus 로고    scopus 로고
    • PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme
    • Eiken H G, Knappskog P M, Apold J, Flatmark T. PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme. Hum Mutat. 7:1996;228-238.
    • (1996) Hum Mutat , vol.7 , pp. 228-238
    • Eiken, H.G.1    Knappskog, P.M.2    Apold, J.3    Flatmark, T.4
  • 14
    • 0028029176 scopus 로고
    • Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders
    • Lichter-Konecki U, Rupp A, Konecki D S, Trefz F K, Schmidt H, Burgard P. Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders. J Inher Metab Dis. 17:1994;362-365.
    • (1994) J Inher Metab Dis , vol.17 , pp. 362-365
    • Lichter-Konecki, U.1    Rupp, A.2    Konecki, D.S.3    Trefz, F.K.4    Schmidt, H.5    Burgard, P.6
  • 15
    • 0029829975 scopus 로고    scopus 로고
    • Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria
    • Burgard P, Rupp A, Konecki D S, Trefz F K, Schmidt H, Lichter-Konecki U. Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr. 155:1996;S11-S15.
    • (1996) Eur J Pediatr , vol.155
    • Burgard, P.1    Rupp, A.2    Konecki, D.S.3    Trefz, F.K.4    Schmidt, H.5    Lichter-Konecki, U.6
  • 17
    • 0027390018 scopus 로고
    • Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients
    • Svensson E, von Döbeln U, Eisensmith R C, Hagenfeldt L, Woo S LC. Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients. Eur J Pediatr. 152:1993;132-139.
    • (1993) Eur J Pediatr , vol.152 , pp. 132-139
    • Svensson, E.1    Von Döbeln, U.2    Eisensmith, R.C.3    Hagenfeldt, L.4    Woo, S.L.5
  • 18
    • 0023262423 scopus 로고
    • Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria
    • Güttler F, Ledley F D, Lidsky A S, DiLella A G, Sullivan S E, Woo S LC. Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria. J Pediatr. 110:1987;68-71.
    • (1987) J Pediatr , vol.110 , pp. 68-71
    • Güttler, F.1    Ledley, F.D.2    Lidsky, A.S.3    Dilella, A.G.4    Sullivan, S.E.5    Woo, S.L.6
  • 19
    • 0031979714 scopus 로고    scopus 로고
    • Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
    • Rivera I, Leandro P, Lichter-Konecki U, Tavares de Almeida I, Lechner M C. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J Med Genet. 35:1998;301-304.
    • (1998) J Med Genet , vol.35 , pp. 301-304
    • Rivera, I.1    Leandro, P.2    Lichter-Konecki, U.3    Tavares De Almeida, I.4    Lechner, M.C.5
  • 20
    • 0029786950 scopus 로고    scopus 로고
    • The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency
    • Güttler F, Guldberg P. The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. Eur J Pediatr. 155:1996;S6-S10.
    • (1996) Eur J Pediatr , vol.155
    • Güttler, F.1    Guldberg, P.2
  • 25
    • 0029870179 scopus 로고    scopus 로고
    • Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population
    • Eisensmith R C, Martinez D R, Kuzmin A I, Glotsov A, Brown A, Singh R, Elsas L J, Woo S LC. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population. Pediatrics. 97:1996;512-516.
    • (1996) Pediatrics , vol.97 , pp. 512-516
    • Eisensmith, R.C.1    Martinez, D.R.2    Kuzmin, A.I.3    Glotsov, A.4    Brown, A.5    Singh, R.6    Elsas, L.J.7    Woo, S.L.8
  • 26
  • 27
    • 0029076779 scopus 로고
    • Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity
    • Desviat L R, Pérez B, De Lucca M, Cornejo V, Schmidt B, Ugarte M. Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. Am J Hum Genet. 57:1995;337-342.
    • (1995) Am J Hum Genet , vol.57 , pp. 337-342
    • Desviat, L.R.1    Pérez, B.2    De Lucca, M.3    Cornejo, V.4    Schmidt, B.5    Ugarte, M.6
  • 28
    • 0029102923 scopus 로고
    • Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation
    • Leandro P, Rivera I, Ribeiro V, Tavares de Almeida I, Lechner M C. Analysis of phenylketonuria in South and Central Portugal: Prevalence of V388M mutation. Hum Mutat. 6:1995;192-194.
    • (1995) Hum Mutat , vol.6 , pp. 192-194
    • Leandro, P.1    Rivera, I.2    Ribeiro, V.3    Tavares De Almeida, I.4    Lechner, M.C.5
  • 30
    • 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. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: A metanalysis of genotype-phenotype correlations. Am J Hum Genet. 61:1997;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
  • 32
    • 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. In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function. Hum Mutat. 11:1998;4-17.
    • (1998) Hum Mutat , vol.11 , pp. 4-17
    • Waters, P.J.1    Parniak, M.A.2    Nowacki, P.3    Scriver, C.R.4
  • 33
    • 0025862159 scopus 로고
    • The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
    • Konecki D S, Lichter-Konecki U. The phenylketonuria locus: Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet. 87:1991;377-388.
    • (1991) Hum Genet , vol.87 , pp. 377-388
    • Konecki, D.S.1    Lichter-Konecki, U.2
  • 34
    • 0027270101 scopus 로고
    • Comparision of genotype and intellectual phenotype in untreated PKU patients
    • Ramus S J, Forrest S M, Pitt D B, Saleeba J A, Cotton R GH. Comparision of genotype and intellectual phenotype in untreated PKU patients. J Med Genet. 30:1993;401-405.
    • (1993) J Med Genet , vol.30 , pp. 401-405
    • Ramus, S.J.1    Forrest, S.M.2    Pitt, D.B.3    Saleeba, J.A.4    Cotton, R.G.5
  • 35
    • 0031127171 scopus 로고    scopus 로고
    • The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency
    • Koch R, Fischler K, Azen C, Guldberg P, Güttler F. The relationship of genotype to phenotype in phenylalanine hydroxylase deficiency. Biochem Mol Med. 60:1997;92-101.
    • (1997) Biochem Mol Med , vol.60 , pp. 92-101
    • Koch, R.1    Fischler, K.2    Azen, C.3    Guldberg, P.4    Güttler, F.5
  • 36
    • 0002563318 scopus 로고
    • Phenylketonuria: Biochemical mechanisms
    • Kaufman S. Phenylketonuria: Biochemical mechanisms. Adv Neurochem. 2:1976;1-132.
    • (1976) Adv Neurochem , vol.2 , pp. 1-132
    • Kaufman, S.1
  • 37
    • 0025019368 scopus 로고
    • Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene
    • Okano Y, Wang T, Eisensmith R C, Steinmann B, Gitzelmann R, Woo S LC. Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene. Am J Hum Genet. 46:1990;18-25.
    • (1990) Am J Hum Genet , vol.46 , pp. 18-25
    • Okano, Y.1    Wang, T.2    Eisensmith, R.C.3    Steinmann, B.4    Gitzelmann, R.5    Woo, S.L.6
  • 38
    • 0028109263 scopus 로고
    • Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function
    • Dickson P W, Jennings I G, Cotton R GH. Delineation of the catalytic core of phenylalanine hydroxylase and identification of glutamate 286 as a critical residue for pterin function. J Biol Chem. 269:1994;20369-20375.
    • (1994) J Biol Chem , vol.269 , pp. 20369-20375
    • Dickson, P.W.1    Jennings, I.G.2    Cotton, R.G.3
  • 39
    • 0031303781 scopus 로고    scopus 로고
    • Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria
    • Erlandsen H, Fusetti F, Martinez A, Hough E, Flatmark T, Stevens R C. Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. Nature Struct. Biol. 4:1997;995-999.
    • (1997) Nature Struct. Biol. , vol.4 , pp. 995-999
    • Erlandsen, H.1    Fusetti, F.2    Martinez, A.3    Hough, E.4    Flatmark, T.5    Stevens, R.C.6
  • 40
    • 0032479302 scopus 로고    scopus 로고
    • Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria
    • Fusetti F, Erlandsen H, Flatmark T, Stevens R C. Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J Biol Chem. 273:1998;16962-16967.
    • (1998) J Biol Chem , vol.273 , pp. 16962-16967
    • Fusetti, F.1    Erlandsen, H.2    Flatmark, T.3    Stevens, R.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.