Crystal structure of the human glucose transporter GLUT1
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Mueckler, M. et al. Sequence and structure of a human glucose transporter. Science 229, 941–945 (1985)
Thorens, B. & Mueckler, M. Glucose transporters in the 21st Century. Am. J. Physiol. Endocrinol. Metab. 298, E141–E145 (2010)
Kasahara, M. & Hinkle, P. C. Reconstitution and purification of the D-glucose transporter from human erythrocytes. J. Biol. Chem. 252, 7384–7390 (1977)
Dick, A. P., Harik, S. I., Klip, A. & Walker, D. M. Identification and characterization of the glucose transporter of the blood-brain barrier by cytochalasin B binding and immunological reactivity. Proc. Natl Acad. Sci. USA 81, 7233–7237 (1984)
Pardridge, W. M., Boado, R. J. & Farrell, C. R. Brain-type glucose transporter (GLUT-1) is selectively localized to the blood-brain barrier. Studies with quantitative western blotting and in situ hybridization. J. Biol. Chem. 265, 18035–18040 (1990)
Maher, F., Vannucci, S. J. & Simpson, I. A. Glucose transporter proteins in brain. FASEB J. 8, 1003–1011 (1994)
Klepper, J. et al. Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. Neurochem. Res. 24, 587–594 (1999)
Pearson, T. S., Akman, C., Hinton, V. J., Engelstad, K. & De Vivo, D. C. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr. Neurol. Neurosci. Rep. 13, 342 (2013)
Saudubray, J.-M., van den Berghe, G. & Walter, J. H. Inborn Metabolic Diseases: Diagnosis and Treatment 5th edn 656 (Springer, 2011)
Leen, W. G. et al. GLUT1 deficiency syndrome into adulthood: a follow-up study. J. Neurol. 261, 589–599 (2014)
Suls, A. et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann. Neurol. 66, 415–419 (2009)
Amann, T. & Hellerbrand, C. GLUT1 as a therapeutic target in hepatocellular carcinoma. Expert Opin. Ther. Targets 13, 1411–1427 (2009)
Amann, T., Kirovski, G., Bosserhoff, A. K. & Hellerbrand, C. Analysis of a promoter polymorphism of the GLUT1 gene in patients with hepatocellular carcinoma. Mol. Membr. Biol. 28, 182–186 (2011)
Amann, T. et al. GLUT1 expression is increased in hepatocellular carcinoma and promotes tumorigenesis. Am. J. Pathol. 174, 1544–1552 (2009)
Shim, B. Y. et al. Glucose transporter 1 (GLUT1) of anaerobic glycolysis as predictive and prognostic values in neoadjuvant chemoradiotherapy and laparoscopic surgery for locally advanced rectal cancer. Int. J. Colorectal Dis. 28, 375–383 (2013)
Ramani, P., Headford, A. & May, M. T. GLUT1 protein expression correlates with unfavourable histologic category and high risk in patients with neuroblastic tumours. Virchows Arch. 462, 203–209 (2013)
McGuire, B. B. & Fitzpatrick, J. M. Biomarkers in renal cell carcinoma. Curr. Opin. Urol. 19, 441–446 (2009)
Kaira, K. et al. Biological significance of F-FDG uptake on PET in patients with non-small-cell lung cancer. Lung Cancer 83, 197–204 (2014)
Maiden, M. C., Davis, E. O., Baldwin, S. A., Moore, D. C. & Henderson, P. J. Mammalian and bacterial sugar transport proteins are homologous. Nature 325, 641–643 (1987)
Hediger, M. A., Clemencon, B., Burrier, R. E. & Bruford, E. A. The ABCs of membrane transporters in health and disease (SLC series): introduction. Mol. Aspects Med. 34, 95–107 (2013)
Shi, Y. Common folds and transport mechanisms of secondary active transporters. Annu. Rev. Biophys. 42, 51–72 (2013)
Henderson, P. J. & Baldwin, S. A. This is about the in and the out. Nature Struct. Mol. Biol. 20, 654–655 (2013)
Pao, S. S., Paulsen, I. T. & Saier, M. H., Jr Major facilitator superfamily. Microbiol. Mol. Biol. Rev. 62, 1–34 (1998)
Yan, N. Structural advances for the major facilitator superfamily (MFS) transporters. Trends Biochem. Sci. 38, 151–159 (2013)
Radestock, S. & Forrest, L. R. The alternating-access mechanism of MFS transporters arises from inverted-topology repeats. J. Mol. Biol. 407, 698–715 (2011)
Sun, L. et al. Crystal structure of a bacterial homologue of glucose transporters GLUT1–4. Nature 490, 361–366 (2012)
Quistgaard, E. M., Low, C., Moberg, P., Tresaugues, L. & Nordlund, P. Structural basis for substrate transport in the GLUT-homology family of monosaccharide transporters. Nature Struct. Mol. Biol. 20, 766–768 (2013)
Iancu, C. V., Zamoon, J., Woo, S. B., Aleshin, A. & Choe, J. Y. Crystal structure of a glucose/H+ symporter and its mechanism of action. Proc. Natl Acad. Sci. USA 110, 17862–17867 (2013)
Nelson, D. L. & Cox, M. M. Lehninger Principles of Biochemistry (W. H. Freeman, 2008)
Schürmann, A. et al. Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function. Biochemistry 36, 12897–12902 (1997)
Smirnova, I., Kasho, V. & Kaback, H. R. Lactose permease and the alternating access mechanism. Biochemistry 50, 9684–9693 (2011)
Wang, D., Kranz-Eble, P. & De Vivo, D. C. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum. Mutat. 16, 224–231 (2000)
Klepper, J. et al. Autosomal dominant transmission of GLUT1 deficiency. Hum. Mol. Genet. 10, 63–68 (2001)
Overweg-Plandsoen, W. C. et al. GLUT-1 deficiency without epilepsy–an exceptional case. J. Inherit. Metab. Dis. 26, 559–563 (2003)
Wang, D. et al. Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Ann. Neurol. 57, 111–118 (2005)
Weber, Y. G. et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J. Clin. Invest. 118, 2157–2168 (2008)
Schneider, S. A. et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov. Disord. 24, 1684–1688 (2009)
Leen, W. G. et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133, 655–670 (2010)
Mullen, S. A., Suls, A., De Jonghe, P., Berkovic, S. F. & Scheffer, I. E. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 75, 432–440 (2010)
Urbizu, A. et al. Paroxysmal exercise-induced dyskinesia, writer’s cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J. Neurol. Sci. 295, 110–113 (2010)
Anheim, M. et al. Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. J. Neurol. 258, 316–317 (2011)
Striano, P. et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 78, 557–562 (2012)
Madej, M. G., Sun, L., Yan, N. & Kaback, H. R. Functional architecture of MFS D-glucose transporters. Proc. Natl Acad. Sci. USA 111, E719–E727 (2014)
Dang, S. et al. Structure of a fucose transporter in an outward-open conformation. Nature 467, 734–738 (2010)
Mitchell, P. David Keilin’s respiratory chain concept and its chemiosmotic consequences. In Nobel Lectures, Chemistry 1971–1980 (ed. Forsén, S. ) (World Scientific Publishing Co., 1978)
Sanderson, N. M., Qi, D., Steel, A. & Henderson, P. J. Effect of the D32N and N300F mutations on the activity of the bacterial sugar transport protein, GalP. Biochem. Soc. Trans. 26, S306 (1998)
Henderson, P. J. & Baldwin, S. A. Structural biology: Bundles of insights into sugar transporters. Nature 490, 348–350 (2012)
DeLano, W. L. The PyMOL Molecular Graphics System. http://www.pymol.org (2002)
Otwinowski, Z. & Minor, W. Processing of X-ray diffraction data. Methods Enzymol. 276, 307–326 (1997)
Collaborative Computational Project, 4. The CCP4 suite: programs for protein crystallography. Acta Crystallogr. D 50, 760–763 (1994)
Stein, N. CHAINSAW: a program for mutating pdb files used as templates in molecular replacement. J. Appl. Crystallogr. 41, 641–643 (2008)
Emsley, P. & Cowtan, K. Coot: model-building tools for molecular graphics. Acta Crystallogr. D 60, 2126–2132 (2004)
Adams, P. D. et al. PHENIX: building new software for automated crystallographic structure determination. Acta Crystallogr. D 58, 1948–1954 (2002)
Pérez-Dueñas, B. et al. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch. Neurol. 66, 1410 (2009)
Pascual, J. M., Van Heertum, R. L., Wang, D., Engelstad, K. & De Vivo, D. C. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann. Neurol. 52, 458–464 (2002)
Afawi, Z. et al. Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia 51, 2466–2469 (2010)