GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

@article{Seidner1998GLUT1DS,
  title={GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier},
  author={G. Seidner and M. G. Alvarez and Jih-I Yeh and K. R. O'Driscoll and J. Klepper and T. Stump and D. Wang and N. Spinner and M. Birnbaum and D. C. D. Vivo},
  journal={Nature Genetics},
  year={1998},
  volume={18},
  pages={188-191}
}
  • G. Seidner, M. G. Alvarez, +7 authors D. C. D. Vivo
  • Published 1998
  • Medicine, Biology
  • Nature Genetics
  • The high metabolic requirements of the mammalian central nervous system require specialized structures for the facilitated transport of nutrients across the blood-brain barrier. Stereo-specific high-capacity carriers, including those that recognize glucose, are key components of this barrier, which also protects the brain against noxious substances. Facilitated glucose transport in vertebrates is catalyzed by a family of carriers consisting of at least five functional isoforms with distinct… CONTINUE READING
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    References

    SHOWING 1-10 OF 16 REFERENCES
    Facilitative glucose transporters.
    • M. Mueckler
    • Medicine, Biology
    • European journal of biochemistry
    • 1994
    • 1,028
    Polymorphic Human Glucose Transporter Gene (GLUT) is on Chromosome 1p31.3→p35
    • 71
    • PDF
    Glucose transporter proteins in brain
    • F. Maher, S. Vannucci, I. Simpson
    • Biology, Medicine
    • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
    • 1994
    • 460
    Sequence and structure of a human glucose transporter.
    • 1,284
    Cloning and characterization of a cDNA encoding the rat brain glucose-transporter protein.
    • 435
    • PDF