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218 related items for PubMed ID: 22018727

  • 1. 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; 105(1):132-40. PubMed ID: 22018727
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  • 2. 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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  • 7. Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
    Dindo M, Oppici E, Dell'Orco D, Montone R, Cellini B.
    J Inherit Metab Dis; 2018 Mar; 41(2):263-275. PubMed ID: 29110180
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  • 8. 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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  • 9. Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
    Gatticchi L, Dindo M, Pampalone G, Conter C, Cellini B, Takayama T.
    Biochem Biophys Res Commun; 2023 Feb 19; 645():118-123. PubMed ID: 36682331
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  • 12. 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 19; 1854(9):1212-9. PubMed ID: 25620715
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  • 13. Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.
    Dindo M, Montioli R, Busato M, Giorgetti A, Cellini B, Borri Voltattorni C.
    Biochimie; 2016 Dec 19; 131():137-148. PubMed ID: 27720751
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  • 15. Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.
    Cellini B, Lorenzetto A, Montioli R, Oppici E, Voltattorni CB.
    Biochimie; 2010 Dec 19; 92(12):1801-11. PubMed ID: 20713123
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  • 17. 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 19; 41(5):1233-45. PubMed ID: 21103899
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  • 19. Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.
    Cellini B, Montioli R, Voltattorni CB.
    Biochim Biophys Acta; 2011 Nov 19; 1814(11):1577-84. PubMed ID: 21176891
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