BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 8889583)

  • 1. 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 PM; Eiken HG; Martínez A; Bruland O; Apold J; Flatmark T
    Hum Mutat; 1996; 8(3):236-46. PubMed ID: 8889583
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
    Eiken HG; Knappskog PM; Apold J; Flatmark T
    Hum Mutat; 1996; 7(3):228-38. PubMed ID: 8829656
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase.
    Leandro P; Rivera I; Lechner MC; de Almeida IT; Konecki D
    Mol Genet Metab; 2000 Mar; 69(3):204-12. PubMed ID: 10767175
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.
    Dobrowolski SF; Pey AL; Koch R; Levy H; Ellingson CC; Naylor EW; Martinez A
    J Inherit Metab Dis; 2009 Feb; 32(1):10-21. PubMed ID: 18937047
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an isothermal titration calorimetry study.
    Pey AL; Martinez A
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S43-53. PubMed ID: 15936235
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme.
    Waters PI; Hewson AS; Scriver CR; Treacy EP; Martinez A; Knappskog PM; Parniak MA
    Biochem Soc Trans; 1997 May; 25(2):362S. PubMed ID: 9191407
    [No Abstract]   [Full Text] [Related]  

  • 7. Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
    Heintz C; Troxler H; Martinez A; Thöny B; Blau N
    Mol Genet Metab; 2012 Apr; 105(4):559-65. PubMed ID: 22300847
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Response of patients with phenylketonuria in the US to tetrahydrobiopterin.
    Matalon R; Michals-Matalon K; Koch R; Grady J; Tyring S; Stevens RC
    Mol Genet Metab; 2005 Dec; 86 Suppl 1():S17-21. PubMed ID: 16143554
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.
    Pey AL; Pérez B; Desviat LR; Martínez MA; Aguado C; Erlandsen H; Gámez A; Stevens RC; Thórólfsson M; Ugarte M; Martínez A
    Hum Mutat; 2004 Nov; 24(5):388-99. PubMed ID: 15459954
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A comparison of kinetic and regulatory properties of the tetrameric and dimeric forms of wild-type and Thr427-->Pro mutant human phenylalanine hydroxylase: contribution of the flexible hinge region Asp425-Gln429 to the tetramerization and cooperative substrate binding.
    Bjørgo E; de Carvalho RM; Flatmark T
    Eur J Biochem; 2001 Feb; 268(4):997-1005. PubMed ID: 11179966
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
    Shen N; Heintz C; Thiel C; Okun JG; Hoffmann GF; Blau N
    Mol Genet Metab; 2016 Mar; 117(3):328-35. PubMed ID: 26803807
    [TBL] [Abstract][Full Text] [Related]  

  • 12. BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.
    Aguado C; Pérez B; García MJ; Bélanger-Quintana A; Martínez-Pardo M; Ugarte M; Desviat LR
    Clin Chim Acta; 2007 May; 380(1-2):8-12. PubMed ID: 17408607
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
    Dobrowolski SF; Heintz C; Miller T; Ellingson C; Ellingson C; Ozer I; Gökçay G; Baykal T; Thöny B; Demirkol M; Blau N
    Mol Genet Metab; 2011 Feb; 102(2):116-21. PubMed ID: 21147011
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.
    Spaapen LJ; Rubio-Gozalbo ME
    Mol Genet Metab; 2003 Feb; 78(2):93-9. PubMed ID: 12618080
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.
    Bjørgo E; Knappskog PM; Martinez A; Stevens RC; Flatmark T
    Eur J Biochem; 1998 Oct; 257(1):1-10. PubMed ID: 9799096
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectroscopic and kinetic studies of PKU-inducing mutants of phenylalanine hydroxylase: Arg158Gln and Glu280Lys.
    Kemsley JN; Wasinger EC; Datta S; Mitić N; Acharya T; Hedman B; Caradonna JP; Hodgson KO; Solomon EI
    J Am Chem Soc; 2003 May; 125(19):5677-86. PubMed ID: 12733906
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype.
    Waters PJ; Parniak MA; Akerman BR; Scriver CR
    Mol Genet Metab; 2000 Feb; 69(2):101-10. PubMed ID: 10720436
    [TBL] [Abstract][Full Text] [Related]  

  • 18. In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
    Zhang X; Ye J; Shen N; Tao Y; Han L; Qiu W; Zhang H; Liang L; Fan Y; Wang J; Gong Z; Wang Y; You G; Fu Q; Mo X; Gu X; Yu Y
    Gene; 2019 Jul; 707():239-245. PubMed ID: 31102715
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
    Thöny B; Ding Z; Martínez A
    FEBS Lett; 2004 Nov; 577(3):507-11. PubMed ID: 15556637
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
    Klaassen K; Djordjevic M; Skakic A; Desviat LR; Pavlovic S; Perez B; Stojiljkovic M
    Biochem Genet; 2018 Oct; 56(5):533-541. PubMed ID: 29654578
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.