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Journal Abstract Search

156 related items for PubMed ID: 8404037

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  • 3. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation.
    Fon EA, Sarrazin J, Meunier C, Alarcia J, Shevell MI, Philippe A, Leboyer M, Rouleau GA.
    Am J Med Genet; 1995 Dec 18; 60(6):554-7. PubMed ID: 8825895
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  • 6. Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
    Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G.
    Am J Hum Genet; 2002 Jul 18; 71(1):14-21. PubMed ID: 12016589
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  • 9. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
    Kmoch S, Hartmannová H, Stibůrková B, Krijt J, Zikánová M, Sebesta I.
    Hum Mol Genet; 2000 Jun 12; 9(10):1501-13. PubMed ID: 10888601
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  • 10. A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology.
    Fenton AR, Janowitz HN, Franklin LP, Young RG, Moro CA, DeGennaro MV, McReynolds MR, Wang W, Hanna-Rose W.
    Mol Genet Metab; 2023 Nov 12; 140(3):107686. PubMed ID: 37607437
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  • 11. A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity.
    Van Keuren ML, Hart IM, Kao FT, Neve RL, Bruns GA, Kurnit DM, Patterson D.
    Cytogenet Cell Genet; 1987 Nov 12; 44(2-3):142-7. PubMed ID: 3568763
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  • 12. Adenylosuccinate lyase is oncogenic in colorectal cancer by causing mitochondrial dysfunction and independent activation of NRF2 and mTOR-MYC-axis.
    Taha-Mehlitz S, Bianco G, Coto-Llerena M, Kancherla V, Bantug GR, Gallon J, Ercan C, Panebianco F, Eppenberger-Castori S, von Strauss M, Staubli S, Bolli M, Peterli R, Matter MS, Terracciano LM, von Flüe M, Ng CKY, Soysal SD, Kollmar O, Piscuoglio S.
    Theranostics; 2021 Nov 12; 11(9):4011-4029. PubMed ID: 33754045
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  • 13. Adenylosuccinate lyase deficiency.
    Spiegel EK, Colman RF, Patterson D.
    Mol Genet Metab; 2006 Nov 12; 89(1-2):19-31. PubMed ID: 16839792
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  • 15. Adenylosuccinate lyase of Schistosoma mansoni: gene structure, mRNA expression, and analysis of the predicted peptide structure of a potential chemotherapeutic target.
    Foulk BW, Pappas G, Hirai Y, Hirai H, Williams DL.
    Int J Parasitol; 2002 Nov 12; 32(12):1487-95. PubMed ID: 12392914
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  • 16. Mapping of the bovine genes of the de novo AMP synthesis pathway.
    Bønsdorff T, Gautier M, Farstad W, Rønningen K, Lingaas F, Olsaker I.
    Anim Genet; 2004 Dec 12; 35(6):438-44. PubMed ID: 15566465
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  • 19. Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
    Ray SP, Duval N, Wilkinson TG, Shaheen SE, Ghosh K, Patterson D.
    Biochim Biophys Acta; 2013 Aug 12; 1834(8):1545-53. PubMed ID: 23714113
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