Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro

Molecular Genetics and Metabolism

Volumn 90, Issue 2, 2007, Pages 193-198

  Wong, H Y ^a,b   Law, P Y ^a,b   Ho, Y Y ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (Hong Kong)

Author keywords

Blood brain barrier; Epilepsy; Glut1; Glut1 deficiency syndrome; Green fluorescent protein

Indexed keywords

AMINO ACID; GLUCOSE TRANSPORTER 1; GREEN FLUORESCENT PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CELL MEMBRANE; CHO CELL; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GLUCOSE TRANSPORT; IN VITRO STUDY; IN VIVO STUDY; MICHAELIS CONSTANT; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; STATISTICAL SIGNIFICANCE; WESTERN BLOTTING; WILD TYPE;

AMINO ACID SUBSTITUTION; ANIMALS; BIOLOGICAL TRANSPORT; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHO CELLS; CRICETINAE; CRICETULUS; GLUCOSE; GLUCOSE TRANSPORTER TYPE 1; GREEN FLUORESCENT PROTEINS; HUMANS; MUTATION;

EID: 33846240943     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.09.002     Document Type: Article

References (22)

1. Ho Y.Y., Wang D., and De Vivo D.C. Glucose Transporters, Encyclopedia of Molecular Medicine (2002), Wiley, New York pp. 1441-1446
2. Ho Y.Y., Yang H., Klepper J., Fischbarg J., Wang D., and De Vivo D.C. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. Pediatr. Res. 50 (2001) 254-260
3. Brockmann K., Wang D., Korenke C., von Moers A., Ho Y.Y., Pascual J., Kuang K., Yang H., Ma L., Kranz-Eble P., Fischbarg J., Hanefeld F., and De Vivo D.C. Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy. Ann. Neurol. 50 (2001) 476-485
4. Zaslavskaia L.A., Lippmeier J.C., Shih C., Ehrhardt D., Grossman A.R., and Apt K.E. Trophic conversion of an obligate photoautotrophic organism through metabolic engineering. Science 292 (2001) 2073-2075
5. Levine K.B., Cloherty E.K., Hamill S., and Carruthers A. Molecular determinants of sugar transport regulation by ATP. Biochemistry 41 (2002) 12629-12638
6. Gubin A.N., Reddy B., Njoroge J.M., and Miller J.L. Long-term, stable expression of green fluorescent protein in mammalian cells. Biochem. Biophys. Res. Commun. 236 (1997) 347-350
7. Wang D., Pascual J., Ho Y.Y., Hinton V., Yang H., Engelstad K., Jhung S., Kranz-Eble P., and De Vivo D.C. Glut-1 deficiency syndrome: a severe phenotype associated with compound heterozygosity in trans. Ann. Neurol. 50 (2001) S125
8. Wang D., Ho Y.Y., Pascual J., Hinton V., Yang H., Anolik M., Kranz-Eble P., Jhung S., Engelstad K., and De Vivo D.C. Glut-1 deficiency syndrome: R333W genotype and paternal mosaicism. Ann. Neurol. 50 (2001) S124
9. Ho Y.Y., Wang D., Hinton V., Yang H., Vasilescu A., Engelstad K., Jhung S., Hanson K.K., Wolf A., and De Vivo D.C. Glut-1 deficiency syndrome: autosomal dominant transmission of the R126C missense mutation. Ann. Neurol. 50 (2001) S125
10. T. Fujii, Y.Y. Ho, D. Wang, D.C. De Vivo, T. Miyajima, H.Y. Wong, P.T. Tsang, Y. Shirasaka, T. Kudo, M. Ito, Three Japanese patients with glucose transporter type 1 deficiency syndrome. Brain Dev. (2006) in press.
11. shevtsova Z., Malik J.M.I., Michel U., Scholl U., Bahr M., and Kugler S. Evaluation of epitope tags for protein detection after in vivo CNS gene transfer. Eu. J. Neurosci. 23 (2006) 1961-1969
12. Chen J., Skehel J.J., and Wiley D.C. A polar octapeptide fused to the N-terminal fusion peptide solubilizes the influenza virus HA (2) subunit ectodomain. Biochemistry 37 (1998) 13643-13649
13. Joost H.G., and Thorens B. The extended GLUT-family of sugar/polyol transport facilitators: nomenclature, sequence characteristics, and potential function of its novel members. Mol. Membr. Biol. 18 (2001) 247-256
14. Sato M., and Mueckler M. A conserved amino acid motif (R-X-G-R-R) in the Glut1 glucose transporter is an important determinant of membrane topology. J. Biol. Chem. 274 (1999) 24721-24725
15. Ho Y.Y., Kulikova-Schupak R., Kranz-Eble P., Yang H., Wang D., and De Vivo D.C. Glucose transporter type-1 deficiency syndrome (Glut-1DS)-associated genetic lesions: alterations in Glut-1 expression and function. FASEB J. (2000) A1331
16. Hruz P.W., and Mueckler M. Structural analysis of the GLUT1 facilitative glucose transporter. Mol. Membr. Biol. 18 (2001) 183-193
17. Wang D., Kranz-Eble P., and De Vivo D.C. Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. Hum. Mutat. 16 (2000) 224-231
18. Salas-Burgos A., Iserovich P., Zuniga F., Vera J.C., and Fischbarg J. 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. Biophys. J. 87 (2004) 2990-2999
19. Cunningham P., Afzal-Ahmed U., and Naftalin R.J. Docking studies show that d-glucose and quercetin slide through the transporter GLUT1. J. Biol. Chem. 281 (2006) 5797-5803
20. Olsowski A., Monden I., and Keller K. Cysteine-scanning mutagenesis of flanking regions at the boundary between external loop I or IV and transmembrane segment II or VII in the GLUT1 glucose transporter. Biochemistry 37 (1998) 10738-10745
21. Doege H., Schurmann A., Ohnimus H., Monser V., Holman G.D., and Joost H.G. Serine-294 and threonine-295 in the exofacial loop domain between helices 7 and 8 of glucose transporters (GLUT) are involved in the conformational alterations during the transport process. Biochem. J. 329 (1998) 289-293
22. Pascual J.M., Wang D., Lecumberri B., Yang H., Mao X., Yang R., and De Vivo D.C. GLUT1 deficiency and other glucose transporter diseases. Eur. J. Endocrinol. 150 (2004) 627-633