BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 12559847)

  • 1. The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans.
    Coulter-Mackie MB; Tung A; Henderson HE; Toone JR; Applegarth DA
    Mol Genet Metab; 2003 Jan; 78(1):44-50. PubMed ID: 12559847
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor.
    Coulter-Mackie MB; Lian Q; Wong SG
    Protein Expr Purif; 2005 May; 41(1):18-26. PubMed ID: 15802217
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
    Nagara M; Tiar A; Ben Halim N; Ben Rhouma F; Messaoud O; Bouyacoub Y; Kefi R; Hassayoun S; Zouari N; Ben Ammar MS; Abdelhak S; Chemli J
    Gene; 2013 Sep; 527(1):316-20. PubMed ID: 23810941
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
    Danpure CJ; Purdue PE; Fryer P; Griffiths S; Allsop J; Lumb MJ; Guttridge KM; Jennings PR; Scheinman JI; Mauer SM
    Am J Hum Genet; 1993 Aug; 53(2):417-32. PubMed ID: 8101040
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
    Lage MD; Pittman AM; Roncador A; Cellini B; Tucker CL
    PLoS One; 2014; 9(4):e94338. PubMed ID: 24718375
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation.
    Cellini B; Montioli R; Paiardini A; Lorenzetto A; Voltattorni CB
    J Biol Chem; 2009 Mar; 284(13):8349-58. PubMed ID: 19155213
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
    Williams EL; Acquaviva C; Amoroso A; Chevalier F; Coulter-Mackie M; Monico CG; Giachino D; Owen T; Robbiano A; Salido E; Waterham H; Rumsby G
    Hum Mutat; 2009 Jun; 30(6):910-7. PubMed ID: 19479957
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The major allele of the alanine:glyoxylate aminotransferase gene: nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1.
    Coulter-Mackie MB; Lian Q; Applegarth D; Toone J
    Mol Genet Metab; 2005; 86(1-2):172-8. PubMed ID: 15963748
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations.
    Lumb MJ; Danpure CJ
    J Biol Chem; 2000 Nov; 275(46):36415-22. PubMed ID: 10960483
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Three novel deletions in the alanine:glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria.
    Coulter-Mackie MB; Rumsby G; Applegarth DA; Toone JR
    Mol Genet Metab; 2001 Nov; 74(3):314-21. PubMed ID: 11708860
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.
    Fargue S; Lewin J; Rumsby G; Danpure CJ
    J Biol Chem; 2013 Jan; 288(4):2475-84. PubMed ID: 23229545
    [TBL] [Abstract][Full Text] [Related]  

  • 12. In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase.
    Hopper ED; Pittman AM; Fitzgerald MC; Tucker CL
    J Biol Chem; 2008 Nov; 283(45):30493-502. PubMed ID: 18782763
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
    Danpure CJ
    J Nephrol; 1998; 11 Suppl 1():8-12. PubMed ID: 9604801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
    Montioli R; Oppici E; Dindo M; Roncador A; Gotte G; Cellini B; Borri Voltattorni C
    Biochim Biophys Acta; 2015 Oct; 1854(10 Pt A):1280-9. PubMed ID: 26149463
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
    Oppici E; Roncador A; Montioli R; Bianconi S; Cellini B
    Biochim Biophys Acta; 2013 Dec; 1832(12):2277-88. PubMed ID: 24055001
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene.
    Danpure CJ; Birdsey GM; Rumsby G; Lumb MJ; Purdue PE; Allsop J
    Hum Genet; 1994 Jul; 94(1):55-64. PubMed ID: 8034295
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.
    Danpure CJ; Jennings PR; Fryer P; Purdue PE; Allsop J
    J Inherit Metab Dis; 1994; 17(4):487-99. PubMed ID: 7967498
    [TBL] [Abstract][Full Text] [Related]  

  • 18. S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
    Montioli R; Roncador A; Oppici E; Mandrile G; Giachino DF; Cellini B; Borri Voltattorni C
    Hum Mol Genet; 2014 Nov; 23(22):5998-6007. PubMed ID: 24990153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria.
    Pey AL; Salido E; Sanchez-Ruiz JM
    Amino Acids; 2011 Nov; 41(5):1233-45. PubMed ID: 21103899
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C; Rumsby G
    J Nephrol; 1998; 11 Suppl 1():15-7. PubMed ID: 9604803
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.