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 *

136 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 7.