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Journal Abstract Search

265 related items for PubMed ID: 14987413

  • 41. Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
    Li Y, Zheng R, Xu G, Huang Y, Li Y, Li D, Geng H.
    Am J Physiol Renal Physiol; 2021 Mar 01; 320(3):F475-F484. PubMed ID: 33491567
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  • 43. Effect of alanine supplementation on oxalate synthesis.
    Wood KD, Freeman BL, Killian ME, Lai WS, Assimos D, Knight J, Fargue S.
    Biochim Biophys Acta Mol Basis Dis; 2021 Jan 01; 1867(1):165981. PubMed ID: 33002578
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  • 46. Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
    Dindo M, Grottelli S, Annunziato G, Giardina G, Pieroni M, Pampalone G, Faccini A, Cutruzzolà F, Laurino P, Costantino G, Cellini B.
    Biochem J; 2019 Dec 23; 476(24):3751-3768. PubMed ID: 31794008
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  • 47. 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 23; 41(2):263-275. PubMed ID: 29110180
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  • 48. Primary hyperoxaluria type 1: novel therapies at a glance.
    Bacchetta J, Lieske JC.
    Clin Kidney J; 2022 May 23; 15(Suppl 1):i17-i22. PubMed ID: 35592618
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  • 49. Insights into the pathogenesis of primary hyperoxaluria type I from the structural dynamics of alanine:glyoxylate aminotransferase variants.
    Vankova P, Pacheco-Garcia JL, Loginov DS, Gómez-Mulas A, Kádek A, Martín-Garcia JM, Salido E, Man P, Pey AL.
    FEBS Lett; 2024 Feb 23; 598(4):485-499. PubMed ID: 38243391
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  • 54. 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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  • 56. Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
    Konkoľová J, Chandoga J, Kováčik J, Repiský M, Kramarová V, Paučinová I, Böhmer D.
    BMC Med Genet; 2017 May 31; 18(1):59. PubMed ID: 28569194
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  • 57. A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
    M'Dimegh S, Aquaviva-Bourdain C, Omezzine A, M'Barek I, Souche G, Zellama D, Abidi K, Achour A, Gargah T, Abroug S, Bouslama A.
    J Genet; 2016 Sep 31; 95(3):659-66. PubMed ID: 27659337
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  • 58. Molecular basis of primary hyperoxaluria: clues to innovative treatments.
    Dindo M, Conter C, Oppici E, Ceccarelli V, Marinucci L, Cellini B.
    Urolithiasis; 2019 Feb 31; 47(1):67-78. PubMed ID: 30430197
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  • 60. Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.
    von Schnakenburg C, Rumsby G.
    J Med Genet; 1997 Jun 31; 34(6):489-92. PubMed ID: 9192270
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