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Journal Abstract Search

272 related items for PubMed ID: 3416563

  • 21. Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
    Oppici E, Montioli R, Cellini B.
    Biochim Biophys Acta; 2015 Sep; 1854(9):1212-9. PubMed ID: 25620715
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  • 22. 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 27; 284(13):8349-58. PubMed ID: 19155213
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  • 28. An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.
    Purdue PE, Lumb MJ, Allsop J, Danpure CJ.
    Hum Genet; 1991 Aug 27; 87(4):394-6. PubMed ID: 1879825
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  • 30. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.
    Danpure CJ.
    Biochimie; 1993 Aug 27; 75(3-4):309-15. PubMed ID: 8507692
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  • 32. Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
    Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B.
    Hum Mol Genet; 2015 Oct 01; 24(19):5500-11. PubMed ID: 26199318
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  • 34. Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy.
    Danpure CJ.
    Nephrol Dial Transplant; 1995 Oct 01; 10 Suppl 8():24-9. PubMed ID: 8592621
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  • 35. The molecular basis of alanine: glyoxylate aminotransferase mistargeting: the most common single cause of primary hyperoxaluria type 1.
    Danpure CJ.
    J Nephrol; 1998 Oct 01; 11 Suppl 1():8-12. PubMed ID: 9604801
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  • 36. Molecular basis of the variable mitochondrial and peroxisomal localisation of alanine-glyoxylate aminotransferase.
    Oatey PB, Lumb MJ, Danpure CJ.
    Eur J Biochem; 1996 Oct 15; 241(2):374-85. PubMed ID: 8917433
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  • 37. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
    Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M.
    J Am Soc Nephrol; 2001 Oct 15; 12(10):2072-2079. PubMed ID: 11562405
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  • 38. 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 15; 527(1):316-20. PubMed ID: 23810941
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  • 39. Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
    Van Acker KJ, Eyskens FJ, Espeel MF, Wanders RJ, Dekker C, Kerckaert IO, Roels F.
    Kidney Int; 1996 Nov 15; 50(5):1747-52. PubMed ID: 8914045
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  • 40. Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.
    Castello R, Borzone R, D'Aria S, Annunziata P, Piccolo P, Brunetti-Pierri N.
    Gene Ther; 2016 Feb 15; 23(2):129-34. PubMed ID: 26609667
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