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Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.
Wang D, Pascual JM, Iserovich P, Yang H, Ma L, Kuang K, Zuniga FA, Sun RP, Swaroop KM, Fischbarg J, De Vivo DC. Wang D, et al. Among authors: fischbarg j. J Biol Chem. 2003 Dec 5;278(49):49015-21. doi: 10.1074/jbc.M308765200. Epub 2003 Sep 16. J Biol Chem. 2003. PMID: 13129919 Free article.
We have previously reported on a patient with the Glut1 deficiency syndrome (Online Mendelian Inheritance in Man number 606777) carrying a heterozygous T310I missense mutation in the GLUT1 gene (Klepper, J., Wang, D., Fischbarg, J., Vera, J. C., Jarjou …
We have previously reported on a patient with the Glut1 deficiency syndrome (Online Mendelian Inheritance in Man number 606777) carrying a h …
Predicting the three-dimensional structure of the human facilitative glucose transporter glut1 by a novel evolutionary homology strategy: insights on the molecular mechanism of substrate migration, and binding sites for glucose and inhibitory molecules.
Salas-Burgos A, Iserovich P, Zuniga F, Vera JC, Fischbarg J. Salas-Burgos A, et al. Among authors: fischbarg j. Biophys J. 2004 Nov;87(5):2990-9. doi: 10.1529/biophysj.104.047886. Epub 2004 Aug 23. Biophys J. 2004. PMID: 15326030 Free PMC article.
140 results