BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 12737622)

  • 21. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
    Danpure CJ
    Biochimie; 1993; 75(3-4):309-15. PubMed ID: 8507692
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation.
    Purdue PE; Allsop J; Isaya G; Rosenberg LE; Danpure CJ
    Proc Natl Acad Sci U S A; 1991 Dec; 88(23):10900-4. PubMed ID: 1961759
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
    Coulter-Mackie MB; Rumsby G
    Mol Genet Metab; 2004; 83(1-2):38-46. PubMed ID: 15464418
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1.
    Coulter-Mackie MB; Applegarth D; Toone JR; Henderson H
    Mol Genet Metab; 2004 May; 82(1):64-8. PubMed ID: 15110324
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Strategies for the prenatal diagnosis of primary hyperoxaluria type 1.
    Danpure CJ; Rumsby G
    Prenat Diagn; 1996 Jul; 16(7):587-98. PubMed ID: 8843467
    [TBL] [Abstract][Full Text] [Related]  

  • 29. ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.
    Nishiyama K; Funai T; Yokota S; Ichiyama A
    J Cell Biol; 1993 Dec; 123(5):1237-48. PubMed ID: 8245128
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
    Coulter-Mackie MB
    Am J Nephrol; 2005; 25(3):264-8. PubMed ID: 15961945
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
    Watts RW
    Adv Enzyme Regul; 1992; 32():309-27. PubMed ID: 1496924
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cellular transfection to deliver alanine-glyoxylate aminotransferase to hepatocytes: a rational gene therapy for primary hyperoxaluria-1 (PH-1).
    Koul S; Johnson T; Pramanik S; Koul H
    Am J Nephrol; 2005; 25(2):176-82. PubMed ID: 15849465
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Differential enzyme targeting as an evolutionary adaptation to herbivory in carnivora.
    Birdsey GM; Lewin J; Cunningham AA; Bruford MW; Danpure CJ
    Mol Biol Evol; 2004 Apr; 21(4):632-46. PubMed ID: 14739251
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a spectrum of mutations.
    Coulter-Mackie MB; Lian Q
    Mol Genet Metab; 2006 Dec; 89(4):349-59. PubMed ID: 16971151
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pharmacologic rescue of an enzyme-trafficking defect in primary hyperoxaluria 1.
    Miyata N; Steffen J; Johnson ME; Fargue S; Danpure CJ; Koehler CM
    Proc Natl Acad Sci U S A; 2014 Oct; 111(40):14406-11. PubMed ID: 25237136
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluria.
    Belostotsky R; Lyakhovetsky R; Sherman MY; Shkedy F; Tzvi-Behr S; Bar R; Hoppe B; Reusch B; Beck BB; Frishberg Y
    J Mol Med (Berl); 2018 Jul; 96(7):621-630. PubMed ID: 29777253
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Structural implications of a G170R mutation of alanine:glyoxylate aminotransferase that is associated with peroxisome-to-mitochondrion mistargeting.
    Djordjevic S; Zhang X; Bartlam M; Ye S; Rao Z; Danpure CJ
    Acta Crystallogr Sect F Struct Biol Cryst Commun; 2010 Mar; 66(Pt 3):233-6. PubMed ID: 20208150
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
    Monico CG; Rossetti S; Schwanz HA; Olson JB; Lundquist PA; Dawson DB; Harris PC; Milliner DS
    J Am Soc Nephrol; 2007 Jun; 18(6):1905-14. PubMed ID: 17460142
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Analyses in transfected cells and in vitro of a putative peroxisomal targeting signal of rat liver serine:pyruvate aminotransferase.
    Mizuno T; Ito K; Uchida C; Kitagawa M; Ichiyama A; Miura S; Fujita K; Oda T
    Histochem Cell Biol; 2002 Oct; 118(4):321-8. PubMed ID: 12376828
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.