BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 38700995)

  • 1. Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in
    Petitgas C; Seugnet L; Dulac A; Matassi G; Mteyrek A; Fima R; Strehaiano M; Dagorret J; Chérif-Zahar B; Marie S; Ceballos-Picot I; Birman S
    Elife; 2024 May; 12():. PubMed ID: 38700995
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
    Dammer EB; Göttle M; Duong DM; Hanfelt J; Seyfried NT; Jinnah HA
    Mol Genet Metab; 2015 Apr; 114(4):570-579. PubMed ID: 25769394
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2020; 39(6):905-922. PubMed ID: 32312153
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
    Fu R; Sutcliffe D; Zhao H; Huang X; Schretlen DJ; Benkovic S; Jinnah HA
    Mol Genet Metab; 2015 Jan; 114(1):55-61. PubMed ID: 25481104
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
    Schretlen DJ; Callon W; Ward RE; Fu R; Ho T; Gordon B; Harris JC; Jinnah HA
    J Inherit Metab Dis; 2016 Jan; 39(1):85-91. PubMed ID: 26067813
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
    Edwards NL; Recker D; Fox IH
    J Clin Invest; 1979 May; 63(5):922-30. PubMed ID: 447834
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.
    Witteveen JS; Loopstok SR; Ballesteros LL; Boonstra A; van Bakel NHM; van Boekel WHP; Martens GJM; Visser JE; Kolk SM
    Cell Mol Life Sci; 2022 Jun; 79(6):341. PubMed ID: 35660973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome.
    Engle SJ; Womer DE; Davies PM; Boivin G; Sahota A; Simmonds HA; Stambrook PJ; Tischfield JA
    Hum Mol Genet; 1996 Oct; 5(10):1607-10. PubMed ID: 8894695
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients.
    Ceballos-Picot I; Le Dantec A; Brassier A; Jaïs JP; Ledroit M; Cahu J; Ea HK; Daignan-Fornier B; Pinson B
    Orphanet J Rare Dis; 2015 Jan; 10():7. PubMed ID: 25612837
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
    García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J
    Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis.
    Redhead NJ; Selfridge J; Wu CL; Melton DW
    Hum Gene Ther; 1996 Aug; 7(13):1491-502. PubMed ID: 8864750
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.
    Chen BC; Balasubramaniam S; McGown IN; O'Neill JP; Chng GS; Keng WT; Ngu LH; Duley JA
    Brain Dev; 2014 Aug; 36(7):593-600. PubMed ID: 24055166
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
    Göttle M; Prudente CN; Fu R; Sutcliffe D; Pang H; Cooper D; Veledar E; Glass JD; Gearing M; Visser JE; Jinnah HA
    Ann Neurol; 2014 Jul; 76(1):95-107. PubMed ID: 24891139
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
    Zizzo MG; Frinchi M; Nuzzo D; Jinnah HA; Mudò G; Condorelli DF; Caciagli F; Ciccarelli R; Di Iorio P; Mulè F; Belluardo N; Serio R
    Auton Neurosci; 2018 Mar; 210():55-64. PubMed ID: 29305058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Abnormalities of neural stem cells in Lesch-Nyhan disease.
    Dinasarapu AR; Sutcliffe DJ; Seifar F; Visser JE; Jinnah HA
    J Neurogenet; 2022; 36(2-3):81-87. PubMed ID: 36226509
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2017 Nov; 36(11):704-711. PubMed ID: 29185864
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.