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200 related items for PubMed ID: 17052934

  • 1. Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro.
    Wong HY, Law PY, Ho YY.
    Mol Genet Metab; 2007 Feb; 90(2):193-8. PubMed ID: 17052934
    [Abstract] [Full Text] [Related]

  • 2. Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M.
    Wang D, Yang H, Shi L, Ma L, Fujii T, Engelstad K, Pascual JM, De Vivo DC.
    Pediatr Res; 2008 Nov; 64(5):538-43. PubMed ID: 18614966
    [Abstract] [Full Text] [Related]

  • 3. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
    Wang D, Kranz-Eble P, De Vivo DC.
    Hum Mutat; 2000 Sep; 16(3):224-31. PubMed ID: 10980529
    [Abstract] [Full Text] [Related]

  • 4. The effects of phenytoin and its metabolite 5-(4-hydroxyphenyl)-5-phenylhydantoin on cellular glucose transport.
    Wong HY, Chu TS, Chan YW, Fok TF, Fung LW, Fung KP, Ho YY.
    Life Sci; 2005 Mar 04; 76(16):1859-72. PubMed ID: 15698863
    [Abstract] [Full Text] [Related]

  • 5. T295M-associated Glut1 deficiency syndrome with normal erythrocyte 3-OMG uptake.
    Fujii T, Morimoto M, Yoshioka H, Ho YY, Law PP, Wang D, De Vivo DC.
    Brain Dev; 2011 Apr 04; 33(4):316-20. PubMed ID: 20630673
    [Abstract] [Full Text] [Related]

  • 6. Implications of aberrant temperature-sensitive glucose transport via the glucose transporter deficiency mutant (GLUT1DS) T295M for the alternate-access and fixed-site transport models.
    Cunningham P, Naftalin RJ.
    J Membr Biol; 2013 Jun 04; 246(6):495-511. PubMed ID: 23740044
    [Abstract] [Full Text] [Related]

  • 7. Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.
    Gökben S, Yılmaz S, Klepper J, Serdaroğlu G, Tekgül H.
    Epilepsy Behav; 2011 Jun 04; 21(2):200-2. PubMed ID: 21546317
    [Abstract] [Full Text] [Related]

  • 8. Sodium valproate inhibits glucose transport and exacerbates Glut1-deficiency in vitro.
    Wong HY, Chu TS, Lai JC, Fung KP, Fok TF, Fujii T, Ho YY.
    J Cell Biochem; 2005 Nov 01; 96(4):775-85. PubMed ID: 16149077
    [Abstract] [Full Text] [Related]

  • 9. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.
    Ho YY, Yang H, Klepper J, Fischbarg J, Wang D, De Vivo DC.
    Pediatr Res; 2001 Aug 01; 50(2):254-60. PubMed ID: 11477212
    [Abstract] [Full Text] [Related]

  • 10. Acute effectors of GLUT1 glucose transporter subcellular targeting in CIT3 mouse mammary epithelial cells.
    Riskin A, Nannegari VH, Mond Y.
    Pediatr Res; 2008 Jan 01; 63(1):56-61. PubMed ID: 18043507
    [Abstract] [Full Text] [Related]

  • 11. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
    Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE.
    Ann Neurol; 2012 Nov 01; 72(5):807-15. PubMed ID: 23280796
    [Abstract] [Full Text] [Related]

  • 12. Effect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study.
    Liu X, Liang L, Wu B, Zhang X, Zeng X, Deng Y, Peng B, Zhang X, Zheng L.
    J Mol Graph Model; 2022 Nov 01; 116():108227. PubMed ID: 35671570
    [Abstract] [Full Text] [Related]

  • 13. A new mouse model of GLUT1 deficiency syndrome exhibits abnormal sleep-wake patterns and alterations of glucose kinetics in the brain.
    Furuse T, Mizuma H, Hirose Y, Kushida T, Yamada I, Miura I, Masuya H, Funato H, Yanagisawa M, Onoe H, Wakana S.
    Dis Model Mech; 2019 Sep 12; 12(9):. PubMed ID: 31399478
    [Abstract] [Full Text] [Related]

  • 14. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.
    Lee EE, Ma J, Sacharidou A, Mi W, Salato VK, Nguyen N, Jiang Y, Pascual JM, North PE, Shaul PW, Mettlen M, Wang RC.
    Mol Cell; 2015 Jun 04; 58(5):845-53. PubMed ID: 25982116
    [Abstract] [Full Text] [Related]

  • 15. The expanding phenotype of GLUT1-deficiency syndrome.
    Brockmann K.
    Brain Dev; 2009 Aug 04; 31(7):545-52. PubMed ID: 19304421
    [Abstract] [Full Text] [Related]

  • 16. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.
    Ito Y, Gertsen E, Oguni H, Nakayama T, Matsuo M, Funatsuka M, Voit T, Klepper J, Osawa M.
    Brain Dev; 2005 Jun 04; 27(4):311-7. PubMed ID: 15862198
    [Abstract] [Full Text] [Related]

  • 17. Properties of the human erythrocyte glucose transport protein are determined by cellular context.
    Levine KB, Robichaud TK, Hamill S, Sultzman LA, Carruthers A.
    Biochemistry; 2005 Apr 19; 44(15):5606-16. PubMed ID: 15823019
    [Abstract] [Full Text] [Related]

  • 18. Mutational and functional analysis of Glucose transporter I deficiency syndrome.
    Nakamura S, Osaka H, Muramatsu S, Aoki S, Jimbo EF, Yamagata T.
    Mol Genet Metab; 2015 Nov 19; 116(3):157-62. PubMed ID: 26304067
    [Abstract] [Full Text] [Related]

  • 19. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet.
    Klepper J.
    Epilepsia; 2008 Nov 19; 49 Suppl 8():46-9. PubMed ID: 19049586
    [Abstract] [Full Text] [Related]

  • 20. Autosomal recessive inheritance of GLUT1 deficiency syndrome.
    Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T.
    Neuropediatrics; 2009 Oct 19; 40(5):207-10. PubMed ID: 20221955
    [Abstract] [Full Text] [Related]

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