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249 related items for PubMed ID: 8101040

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity.
    Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J.
    J Inherit Metab Dis; 1994 Aug; 17(4):487-99. PubMed ID: 7967498
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  • 4. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
    Danpure CJ.
    J Nephrol; 1998 Aug; 11 Suppl 1():8-12. PubMed ID: 9604801
    [Abstract] [Full Text] [Related]

  • 5. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.
    Purdue PE, Takada Y, Danpure CJ.
    J Cell Biol; 1990 Dec; 111(6 Pt 1):2341-51. PubMed ID: 1703535
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  • 6. Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.
    Leiper JM, Oatey PB, Danpure CJ.
    J Cell Biol; 1996 Nov; 135(4):939-51. PubMed ID: 8922378
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  • 8. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
    Danpure CJ.
    Biochimie; 1993 Nov; 75(3-4):309-15. PubMed ID: 8507692
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  • 9. A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1.
    Purdue PE, Lumb MJ, Allsop J, Minatogawa Y, Danpure CJ.
    Genomics; 1992 May; 13(1):215-8. PubMed ID: 1349575
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 88(23):10900-4. PubMed ID: 1961759
    [Abstract] [Full Text] [Related]

  • 11. Effect of N-terminal alpha-helix formation on the dimerization and intracellular targeting of alanine:glyoxylate aminotransferase.
    Lumb MJ, Drake AF, Danpure CJ.
    J Biol Chem; 1999 Jul 16; 274(29):20587-96. PubMed ID: 10400689
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 275(46):36415-22. PubMed ID: 10960483
    [Abstract] [Full Text] [Related]

  • 13. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1.
    Cooper PJ, Danpure CJ, Wise PJ, Guttridge KM.
    J Histochem Cytochem; 1988 Oct 17; 36(10):1285-94. PubMed ID: 3418107
    [Abstract] [Full Text] [Related]

  • 14. Molecular and clinical heterogeneity in primary hyperoxaluria type 1.
    Danpure CJ.
    Am J Kidney Dis; 1991 Apr 17; 17(4):366-9. PubMed ID: 2008900
    [Abstract] [Full Text] [Related]

  • 15. Primary hyperoxaluria type 1: AGT mistargeting highlights the fundamental differences between the peroxisomal and mitochondrial protein import pathways.
    Danpure CJ.
    Biochim Biophys Acta; 2006 Dec 17; 1763(12):1776-84. PubMed ID: 17027096
    [Abstract] [Full Text] [Related]

  • 16. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.
    Danpure CJ, Cooper PJ, Wise PJ, Jennings PR.
    J Cell Biol; 1989 Apr 17; 108(4):1345-52. PubMed ID: 2925788
    [Abstract] [Full Text] [Related]

  • 17. Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
    Watts RW.
    Adv Enzyme Regul; 1992 Apr 17; 32():309-27. PubMed ID: 1496924
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 123(5):1237-48. PubMed ID: 8245128
    [Abstract] [Full Text] [Related]

  • 19. Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro.
    Lumb MJ, Birdsey GM, Danpure CJ.
    Biochem J; 2003 Aug 15; 374(Pt 1):79-87. PubMed ID: 12737622
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 1832(12):2277-88. PubMed ID: 24055001
    [Abstract] [Full Text] [Related]

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