BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 35133277)

  • 21. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
    Mastrogiorgio G; Macchiaiolo M; Buonuomo PS; Bellacchio E; Bordi M; Vecchio D; Brown KP; Watson NK; Contardi B; Cecconi F; Tartaglia M; Bartuli A
    Orphanet J Rare Dis; 2021 Mar; 16(1):112. PubMed ID: 33648541
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Adenylosuccinate lyase deficiency: the first identified polish patient.
    Jurkiewicz E; Mierzewska H; Kuśmierska K
    Brain Dev; 2007 Oct; 29(9):600-2. PubMed ID: 17485188
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
    Donti TR; Cappuccio G; Hubert L; Neira J; Atwal PS; Miller MJ; Cardon AL; Sutton VR; Porter BE; Baumer FM; Wangler MF; Sun Q; Emrick LT; Elsea SH
    Mol Genet Metab Rep; 2016 Sep; 8():61-6. PubMed ID: 27504266
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Adenylosuccinase deficiency.
    Van den Berghe G; Jaeken J
    Adv Exp Med Biol; 1986; 195 Pt A():27-33. PubMed ID: 3014834
    [No Abstract]   [Full Text] [Related]  

  • 25. Adenylosuccinate lyase deficiency affects neurobehavior via perturbations to tyramine signaling in Caenorhabditis elegans.
    Moro CA; Sony SA; Franklin LP; Dong S; Peifer MM; Wittig KE; Hanna-Rose W
    PLoS Genet; 2023 Sep; 19(9):e1010974. PubMed ID: 37773959
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Purine Homeostasis Is Necessary for Developmental Timing, Germline Maintenance and Muscle Integrity in
    Marsac R; Pinson B; Saint-Marc C; Olmedo M; Artal-Sanz M; Daignan-Fornier B; Gomes JE
    Genetics; 2019 Apr; 211(4):1297-1313. PubMed ID: 30700528
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Novel features in the evolution of adenylosuccinate lyase deficiency.
    Pérez-Dueñas B; Sempere A; Campistol J; Alonso-Colmenero I; Díez M; González V; Merinero B; Desviat LR; Artuch R
    Eur J Paediatr Neurol; 2012 Jul; 16(4):343-8. PubMed ID: 21903433
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
    Zikanova M; Skopova V; Hnizda A; Krijt J; Kmoch S
    Hum Mutat; 2010 Apr; 31(4):445-55. PubMed ID: 20127976
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Neurological disorders of purine and pyrimidine metabolism.
    Micheli V; Camici M; Tozzi MG; Ipata PL; Sestini S; Bertelli M; Pompucci G
    Curr Top Med Chem; 2011; 11(8):923-47. PubMed ID: 21401501
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Targeting the De Novo Purine Synthesis Pathway Through Adenylosuccinate Lyase Depletion Impairs Liver Cancer Growth by Perturbing Mitochondrial Function.
    Jiang T; Sánchez-Rivera FJ; Soto-Feliciano YM; Yang Q; Song CQ; Bhuatkar A; Haynes CM; Hemann MT; Xue W
    Hepatology; 2021 Jul; 74(1):233-247. PubMed ID: 33336367
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disorders.
    Duval N; Luhrs K; Wilkinson TG; Baresova V; Skopova V; Kmoch S; Vacano GN; Zikanova M; Patterson D
    Mol Genet Metab; 2013 Mar; 108(3):178-189. PubMed ID: 23394948
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.
    Laikind PK; Seegmiller JE; Gruber HE
    Anal Biochem; 1986 Jul; 156(1):81-90. PubMed ID: 3740420
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
    Edery P; Chabrier S; Ceballos-Picot I; Marie S; Vincent MF; Tardieu M
    Am J Med Genet A; 2003 Jul; 120A(2):185-90. PubMed ID: 12833398
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Metabolic disorders of purine metabolism affecting the nervous system.
    Jinnah HA; Sabina RL; Van Den Berghe G
    Handb Clin Neurol; 2013; 113():1827-36. PubMed ID: 23622405
    [TBL] [Abstract][Full Text] [Related]  

  • 38. MicroRNA-21 guide and passenger strand regulation of adenylosuccinate lyase-mediated purine metabolism promotes transition to an EGFR-TKI-tolerant persister state.
    Zhang WC; Skiados N; Aftab F; Moreno C; Silva L; Corbilla PJA; Asara JM; Hata AN; Slack FJ
    Cancer Gene Ther; 2022 Dec; 29(12):1878-1894. PubMed ID: 35840668
    [TBL] [Abstract][Full Text] [Related]  

  • 39. In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
    Henneke M; Dreha-Kulaczewski S; Brockmann K; van der Graaf M; Willemsen MA; Engelke U; Dechent P; Heerschap A; Helms G; Wevers RA; Gärtner J
    NMR Biomed; 2010 Jun; 23(5):441-5. PubMed ID: 20175147
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
    Mierzewska H; Schmidt-Sidor B; Lewandowska E; Grajkowska W; Kuśmierska K; Jurkiewicz E; Stepień T; Rafałowska J
    Folia Neuropathol; 2008; 46(1):81-91. PubMed ID: 18368630
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.