These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

267 related articles for article (PubMed ID: 8829656)

  • 1. 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]  

  • 2. The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
    Leandro J; Saraste J; Leandro P; Flatmark T
    Mol Genet Metab; 2011; 104 Suppl():S40-4. PubMed ID: 21871828
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
    Leandro J; Simonsen N; Saraste J; Leandro P; Flatmark T
    Biochim Biophys Acta; 2011 Jan; 1812(1):106-20. PubMed ID: 20937381
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
    Knappskog PM; Eiken HG; Martinez A; Flatmark T; Apold J
    Hum Genet; 1995 Feb; 95(2):171-3. PubMed ID: 7860062
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
    Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
    Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.
    Dworniczak B; Grudda K; Stümper J; Bartholomé K; Aulehla-Scholz C; Horst J
    Genomics; 1991 Jan; 9(1):193-9. PubMed ID: 1672290
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
    Hofman KJ; Antonarakis SE; Missiou-Tsangaraki S; Boehm CD; Valle D
    Mol Biol Med; 1989 Jun; 6(3):245-50. PubMed ID: 2615649
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria].
    Shu JB; Meng YT; Dang LH; Fu BJ; Song L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular characterization of phenylketonuria in South Brazil.
    Santana da Silva LC; Carvalho TS; da Silva FB; Morari L; Fachel AA; Pires R; Refosco LF; Desnick RJ; Giugliani R; Saraiva Pereira ML
    Mol Genet Metab; 2003 May; 79(1):17-24. PubMed ID: 12765842
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.
    Dehghanian F; Silawi M; Tabei SM
    Clin Lab; 2017 Feb; 63(2):295-300. PubMed ID: 28182360
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.
    Okano Y; Wang T; Eisensmith RC; Steinmann B; Gitzelmann R; Woo SL
    Am J Hum Genet; 1990 Jan; 46(1):18-25. PubMed ID: 1967207
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China].
    Fang B
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1992 Feb; 14(1):46-50. PubMed ID: 1350519
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
    Acosta A; Silva W; Carvalho T; Gomes M; Zago M
    Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
    Haefele MJ; White G; McDonald JD
    Mol Genet Metab; 2001 Jan; 72(1):27-30. PubMed ID: 11161825
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.
    Meijer H; Jongbloed RJ; Hekking M; Spaapen LJ; Geraedts JP
    Hum Genet; 1993 Dec; 92(6):588-92. PubMed ID: 7903270
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].
    Qiu WJ; Zhang YF; Ye J; Han LS; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):261-3. PubMed ID: 15192831
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.