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Structural Signatures and Membrane Helix 4 in GLUT1: INFERENCES FROM HUMAN BLOOD-BRAIN GLUCOSE TRANSPORT MUTANTS
Exon IV of SLC2A1, a multiple facilitator superfamily (MFS) transporter gene, is particularly susceptible to mutations that cause GLUT1 deficiency syndrome, a human encephalopathy that results from decreased glucose flux through the blood-brain barrier. Genotyping of 100 patients revealed that in a...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Biochemistry and Molecular Biology
2008
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2423257/ https://ncbi.nlm.nih.gov/pubmed/18387950 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M801403200 |
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