BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 18710792)

  • 1. Is ZMP the toxic metabolite in Lesch-Nyhan disease?
    López JM
    Med Hypotheses; 2008 Nov; 71(5):657-63. PubMed ID: 18710792
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
    López JM; Outtrim EL; Fu R; Sutcliffe DJ; Torres RJ; Jinnah HA
    Proc Natl Acad Sci U S A; 2020 Jun; 117(22):12071-12079. PubMed ID: 32430324
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lesch-Nyhan syndrome: the synthesis of inosine 5'-phosphate in the hypoxanthine-guanine phosphoribosyltransferase-deficient erythrocyte by alternate biochemical pathways.
    Lowy BA; Williams MK
    Pediatr Res; 1977 May; 11(5):691-4. PubMed ID: 870876
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Z-nucleotide accumulation in erythrocytes from Lesch-Nyhan patients.
    Sidi Y; Mitchell BS
    J Clin Invest; 1985 Dec; 76(6):2416-9. PubMed ID: 4077987
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
    Messina E; Micheli V; Giacomello A
    Neurosci Lett; 2005 Feb; 375(2):97-100. PubMed ID: 15670649
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.
    Escudero-Ferruz P; Ontiveros N; Cano-Estrada C; Sutcliffe DJ; Jinnah HA; Torres RJ; López JM
    Mol Med; 2024 Jan; 30(1):3. PubMed ID: 38172668
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients.
    Pesi R; Micheli V; Jacomelli G; Peruzzi L; Camici M; Garcia-Gil M; Allegrini S; Tozzi MG
    Neuroreport; 2000 Jun; 11(9):1827-31. PubMed ID: 10884027
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
    Neychev VK; Mitev VI
    Med Hypotheses; 2004; 63(1):131-4. PubMed ID: 15193365
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 5-Aminoimidazole-4-carboxamide riboside induces apoptosis in Jurkat cells, but the AMP-activated protein kinase is not involved.
    López JM; Santidrián AF; Campàs C; Gil J
    Biochem J; 2003 Mar; 370(Pt 3):1027-32. PubMed ID: 12452797
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man.
    Curto R; Voit EO; Cascante M
    Biochem J; 1998 Feb; 329 ( Pt 3)(Pt 3):477-87. PubMed ID: 9445373
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
    Cristini S; Navone S; Canzi L; Acerbi F; Ciusani E; Hladnik U; de Gemmis P; Alessandri G; Colombo A; Parati E; Invernici G
    Hum Mol Genet; 2010 May; 19(10):1939-50. PubMed ID: 20159777
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
    Rinat C; Zoref-Shani E; Ben-Neriah Z; Bromberg Y; Becker-Cohen R; Feinstein S; Sperling O; Frishberg Y
    Mol Genet Metab; 2006 Mar; 87(3):249-52. PubMed ID: 16343967
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
    Pinto CS; Jinnah HA; Shirley TL; Nyhan WL; Seifert R
    J Neurochem; 2005 Jun; 93(6):1579-86. PubMed ID: 15935074
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Physiopathology of neurological signs of hypoxanthine-guanine phosphoribosyltransferase deficiency].
    Torres-Jiménez R; Mateos-Antón F; Arcas-Martínez J; Pascual-Castroviejo I; García-Puig J
    Rev Neurol; 1998 Dec; 27(160):1050-4. PubMed ID: 9951034
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 5-Amino-4-imidazolecarboxamide riboside (Z-riboside) metabolism in eukaryotic cells.
    Sabina RL; Patterson D; Holmes EW
    J Biol Chem; 1985 May; 260(10):6107-14. PubMed ID: 3997815
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A human neuronal tissue culture model for Lesch-Nyhan disease.
    Shirley TL; Lewers JC; Egami K; Majumdar A; Kelly M; Ceballos-Picot I; Seidman MM; Jinnah HA
    J Neurochem; 2007 May; 101(3):841-53. PubMed ID: 17448149
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).
    Bertelli M; Cecchin S; Lapucci C; Jacomelli G; Jinnah HA; Pandolfo M; Micheli V
    Clin Chim Acta; 2006 Nov; 373(1-2):104-7. PubMed ID: 16793031
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency].
    López Jiménez M; García Puig J; Mateos Antón F; Ramos Hernández T; Pascual Castroviejo I; Ortiz Vázquez J
    Med Clin (Barc); 1989 Feb; 92(5):167-70. PubMed ID: 2725104
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
    Wu CL; Melton DW
    Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
    Jacomelli G; Baldini E; Mugnaini C; Micheli V; Bernardini G; Santucci A
    J Inherit Metab Dis; 2019 Jan; 42(1):178-185. PubMed ID: 30740729
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.