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Journal Abstract Search


186 related items for PubMed ID: 20133649

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  • 2. 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
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  • 4. 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
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  • 10. 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
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  • 12. Human wild-type alanine:glyoxylate aminotransferase and its naturally occurring G82E variant: functional properties and physiological implications.
    Cellini B, Bertoldi M, Montioli R, Paiardini A, Borri Voltattorni C.
    Biochem J; 2007 Nov 15; 408(1):39-50. PubMed ID: 17696873
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  • 15. 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 07; 283(45):30493-502. PubMed ID: 18782763
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  • 16. 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 Nov 07; 9(4):e94338. PubMed ID: 24718375
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  • 17. Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.
    Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B.
    Mol Genet Metab; 2012 Jan 07; 105(1):132-40. PubMed ID: 22018727
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  • 18. Alanine glyoxylate aminotransferase deficiency: biochemical and molecular genetic lessons from the study of a human disease.
    Watts RW.
    Adv Enzyme Regul; 1992 Jan 07; 32():309-27. PubMed ID: 1496924
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  • 19. 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 07; 135(4):939-51. PubMed ID: 8922378
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  • 20. 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 07; 89(4):349-59. PubMed ID: 16971151
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