BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 22812634)

  • 1. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
    Ray SP; Deaton MK; Capodagli GC; Calkins LA; Sawle L; Ghosh K; Patterson D; Pegan SD
    Biochemistry; 2012 Aug; 51(33):6701-13. PubMed ID: 22812634
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 1834(8):1545-53. PubMed ID: 23714113
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
    Race V; Marie S; Vincent MF; Van den Berghe G
    Hum Mol Genet; 2000 Sep; 9(14):2159-65. PubMed ID: 10958654
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.
    Vliet LK; Wilkinson TG; Duval N; Vacano G; Graham C; Zikánová M; Skopova V; Baresova V; Hnízda A; Kmoch S; Patterson D
    Mol Genet Metab; 2011 Jan; 102(1):61-8. PubMed ID: 20884265
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathway-specific effects of ADSL deficiency on neurodevelopment.
    Dutto I; Gerhards J; Herrera A; Souckova O; Škopová V; Smak JA; Junza A; Yanes O; Boeckx C; Burkhalter MD; Zikánová M; Pons S; Philipp M; Lüders J; Stracker TH
    Elife; 2022 Feb; 11():. PubMed ID: 35133277
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.
    Zikánová M; Krijt J; Hartmannová H; Kmoch S
    J Inherit Metab Dis; 2005; 28(4):493-9. PubMed ID: 15902552
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
    Chen BC; McGown IN; Thong MK; Pitt J; Yunus ZM; Khoo TB; Ngu LH; Duley JA
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S159-62. PubMed ID: 20177786
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
    Gitiaux C; Ceballos-Picot I; Marie S; Valayannopoulos V; Rio M; Verrieres S; Benoist JF; Vincent MF; Desguerre I; Bahi-Buisson N
    Eur J Hum Genet; 2009 Jan; 17(1):133-6. PubMed ID: 18830228
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Tylki-Szymanska A; Krijt J; Bogdanska A; Gradowska W; Mullerova K; Sykut-Cegielska J; Kmoch S; Pronicka E
    Mol Genet Metab; 2008 Aug; 94(4):435-442. PubMed ID: 18524658
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Adenylosuccinate lyase deficiency--first British case.
    Marinaki AM; Champion M; Kurian MA; Simmonds HA; Marie S; Vincent MF; van den Berghe G; Duley JA; Fairbanks LD
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1231-3. PubMed ID: 15571235
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Adenylosuccinate lyase deficiency.
    Jurecka A; Zikanova M; Kmoch S; Tylki-Szymańska A
    J Inherit Metab Dis; 2015 Mar; 38(2):231-42. PubMed ID: 25112391
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 9(10):1501-13. PubMed ID: 10888601
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
    Macchiaiolo M; Barresi S; Cecconi F; Zanni G; Niceta M; Bellacchio E; Lazzarino G; Amorini AM; Bertini ES; Rizza S; Contardi B; Tartaglia M; Bartuli A
    Ital J Pediatr; 2017 Aug; 43(1):65. PubMed ID: 28768552
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 71(1):14-21. PubMed ID: 12016589
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
    Zulfiqar M; Lin DD; Van der Graaf M; Barker PB; Fahrner JA; Marie S; Morava E; De Boer L; Willemsen MA; Vining E; Horská A; Engelke U; Wevers RA; Maegawa GH
    J Magn Reson Imaging; 2013 Apr; 37(4):974-80. PubMed ID: 23055421
    [TBL] [Abstract][Full Text] [Related]  

  • 16. D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
    Jurecka A; Tylki-Szymanska A; Zikanova M; Krijt J; Kmoch S
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S329-32. PubMed ID: 18649008
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
    Van den Berghe G; Vincent MF; Jaeken J
    J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disorders of purine biosynthesis metabolism.
    Dewulf JP; Marie S; Nassogne MC
    Mol Genet Metab; 2022 Jul; 136(3):190-198. PubMed ID: 34998670
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.
    Zikanova M; Krijt J; Skopova V; Krijt M; Baresova V; Kmoch S
    Clin Biochem; 2015 Jan; 48(1-2):2-7. PubMed ID: 25445730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role.
    Palenchar JB; Colman RF
    Biochemistry; 2003 Feb; 42(7):1831-41. PubMed ID: 12590570
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.