Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b

Journal of Biological Chemistry

Volumn 274, Issue 9, 1999, Pages 5532-5536

  Hiraiwa, Hisayuki ^a   Pan, Chi Jiunn ^a   Lin, Baochuan ^a   Moses, Shimon W ^b   Chou, Janice Yang ^a,c  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; GLUCOSE 6 PHOSPHATE;

ARTICLE; ENZYME INACTIVATION; GENE MUTATION; GLUCOSE HOMEOSTASIS; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ANIMALS; ANTIPORTERS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; COS CELLS; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; GLUCOSE-6-PHOSPHATE; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; HYDROLYSIS; MALE; MOLECULAR SEQUENCE DATA; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033605362     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.274.9.5532     Document Type: Article

References (27)

1. Chen, Y.-T., and Burchell, A. (1995) in The Molecular and Metabolic Basis of Inherited Diseases (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds) 7th Ed., pp. 935-965, McGraw-Hill Inc., New York
2. Moses, S. W. (1990) J. Pediatr. Gastroenterol. Nutr. 11, 156-174
3. Nordlie, R. C., and Sukalski, K. A. (1985) in The Enzymes of Biological Membranes (Martonosi, A. N., ed) 2nd Ed., pp. 349-398, Plenum Press, New York
4. Lei, K.-J., Shelly, L. L., Pan, C.-J., Sidbury, J. B., and Chou, J. Y. (1993) Science 262, 580-583
5. Lei, K.-J., Pan, C.-J., Shelly, L. L., Liu, J.-L., and Chou, J. Y. (1994) J. Clin. Invest. 93, 1994-1999
6. Lei, K.-J., Shelly, L. L., Lin, B., Sidbury, J. B., Chen, Y.-T., Nordlie, R. C., and Chou, J. Y. (1995) J. Clin. Invest. 95, 234-240
7. Lei, K.-J., Chen, Y.-T., Chen, H., Wong, L.-J. C., Liu, J.-L., McConkie-Rosell, A., Van Hove, J. L. K., Ou, H. C.-Y., Yeh, N. J., Pan, L. Y., and Chou, J. Y. (1995) Am. J. Hum. Genet. 57, 766-771
8. Narisawa, K., Igarashi, Y., Otomo, H., and Tada, K. (1978) Biochem. Biophys. Res. Commun. 83, 1360-1364
9. Lange, A. J., Arion, W. J., and Beaudet, A. L. (1980) J. Biol. Chem. 255, 8381-8384
10. Beaudet, A. L., Anderson, D. C., Michels, V. V., Arion, W. J., and Lange, A. J. (1980) J. Pediatr. 97, 906-910
11. Gitzemann, R., and Bosshard, N. U. (1993) Eur. J. Pediatr. 152, Suppl. 1, S33-S38
12. Pan, C.-J., Lei, K.-J., Annabi, B., Hemrika, W., and Chou, J. Y. (1998) J. Biol. Chem. 273, 6144-6148
13. Arion, W. J., Lange, A. J., Walls, H. E., and Ballas, L. M. (1980) J. Biol. Chem. 255, 10396-10406
14. Igarashi, Y., Kato, S., Narisawa, K., and Tada, K. (1984) Biochem. Biophys. Res. Commun. 119, 593-597
15. Annabi, B., Hiraiwa, H., Mansfield, B. C., Lei, K.-J., Ubagai, T., Polymeropoulos, M. H., Moses, S. W., Parvari, R., Hershkovitz, E., Mandel, H., Frydman, M., and Chou, J. Y. (1998) Am. J. Hum. Genet. 62, 400-405
16. Gerin, I., Veiga-da-Cunha, M., Achouri, Y., Collet, J.-F., and Van Schaftingen, E. (1997) FEBS Lett. 419, 235-238
17. Kure, S., Suzuki, Y., Matsubara, Y., Sakamoto, O., Shintaku, H., Isshiki, G., Hoshida, C., Izumi, I., Sakura, N., and Narisawa, K. (1998) Biochem. Biophys. Res. Commun. 248, 426-431
18. Veiga-da-Cunha, M., Gerin, I., Chen, Y.-T., de Barsy, T., de Lonlay P., Dionisi-Vici, C., Fenske, C. D., Lee, P. J., Leonard, J. V., Maire, I., McConkie-Rosell, A., Schweitzer, S., Vikkula, M., and Van Schaftingen, E. (1998) Am. J. Hum. Genet. 63, 976-983
19. Lin, B., Annabi, B., Hiraiwa, H., Pan, C. J., and Chou, J. Y. (1998) J. Biol. Chem. 273, 31656-31670
20. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., and Sekiya, T. (1989) Proc. Natl. Acad. Sci. U. S. A. 86, 2766-2770
21. Lei, K.-J., Chen, H., Pan, C.-J., Ward, J. M., Mosinger, B., Lee, E. J., Westphal, H., and Chou, J. Y. (1996) Nat. Genet. 13, 203-209
22. Chirgwin, J. M., Przybyla, A. E., MacDonald, R. J., and Rutter, W. J. (1979) Biochemistry 18, 5294-5299
23. Middleditch, C., Clottes, E., and Burchell, A. (1998) FEBS Lett. 433, 33-36
24. Chen, P. Y., Csutora, P., Veyna-Burke, N. A., and Marchase, R. B. (1998) Diabetes 47, 874-881
25. Arion, W. J., Canfield, W. K., Ramos, F. C., Schindler, P. W., Burger, H.-J., Hemmerle, H., Schubert, G., Below, P., and Herling, A. W. (1997) Arch. Biochem. Biophys. 339, 315-322
26. Kilpatrick, L., Garty, B.-Z., Lundquist, K. F., Hunter, K., Stanley, C. A., Baker, L., Douglas, S. D., and Korchak, H. M. (1990) J. Clin. Invest. 86, 196-202
27. Fulceri R., Romani, A., Pompella, A., and Benedetti, A. (1990) Biochim. Biophys. Acta 1022, 129-133