Varied mechanisms underlie the free sialic acid storage disorders

Journal of Biological Chemistry

Volumn 280, Issue 2, 2005, Pages 1408-1416

  Wreden, Christopher C ^a   Wlizla, Marcin ^a   Reimer, Richard J ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; GENES; PROTEINS;

ACID TRANSPORT; ENDOPLASMIC RETICULUM; LYSOSOMES; SIALIC ACID;

ACIDS;

SIALIC ACID;

ARTICLE; CELL MEMBRANE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HUMAN; HUMAN CELL; MOLECULAR BIOLOGY; PH; PRIORITY JOURNAL; PROTEIN BINDING; SIALIC ACID STORAGE DISEASE;

AMINO ACID SEQUENCE; BIOLOGICAL TRANSPORT; CELL MEMBRANE; CONSERVED SEQUENCE; ENDOPLASMIC RETICULUM; HELA CELLS; HUMANS; HYDROGEN-ION CONCENTRATION; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLNEURAMINIC ACID; ORGANIC ANION TRANSPORTERS; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; SIALIC ACID STORAGE DISEASE; SYMPORTERS;

GENETTA;

EID: 12544255190     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M411295200     Document Type: Article

References (45)

1. Verheijen, F. W., Verbeek, E., Aula, N., Beerens, C. E., Havelaar, A. C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P. J., and Mancini, G. M. (1999) Nat. Genet. 23, 462-465
2. Aula, N., Salomaki, P., Timonen, R., Verheijen, F., Mancini, G., Mansson, J. E., Aula, P., and Peltonen, L. (2000) Am. J. Hum. Genet. 67, 832-840
3. Schiffmann, R., and Brady, R. O. (2002) Drugs 62, 733-742
4. Moser, H. W. (1992) Curr. Opin. Neurol. Neurosurg. 5, 355-358
5. Pisoni, R. L., and Thoene, J. G. (1991) Biochim. Biophys. Acta 1071, 351-373
6. Mancini, G. M., Havelaar, A. C., and Verheijen, F. W. (2000) J. Inherit. Metab Dis. 23, 278-292
7. Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S. A., Callen, D. F., Gribouval, O., Broyer, M., Bates, G. P., van't Hoff, W., and Antignac, C. (1998) Nat. Genet. 18, 319-324
8. Davies, J. P., Chen, F. W., and Ioannou, Y. A. (2000) Science 290, 2295-2298
9. Loftus, S. K., Morris, J. A., Carstea, E. D., Gu, J. Z., Cummings, C., Brown, A., Ellison, J., Ohno, K., Rosenfeld, M. A., Tagle, D. A., Pentchev, P. G., and Pavan, W. J. (1997) Science 277, 232-235
10. Kim, Y., Ramirez-Montealegre, D., and Pearce, D. A. (2003) Proc. Natl. Acad. Sci. U. S. A. 100, 15458-15462
11. Varho, T. T., Alajoki, L. E., Posti, K. M., Korhonen, T. T., Renlund, M. G., Nyman, S. R., Sillanpaa, M. L., and Aula, P. P. (2002) Pediatr. Neurol. 26, 267-273
12. Aula, P., Autio, S., Raivio, K. O., Rapola, J., Thoden, C. J., Koskela, S. L., and Yamashina, I. (1979) Arch. Neurol. 36, 88-94
13. Virtanen, I., Ekblom, P., Laurila, P., Nordling, S., Raivio, K. O., and Aula, P. (1980) Pediatr. Res. 14, 1199-1203
14. Renlund, M., Aula, P., Raivio, K. O., Autio, S., Sainio, K., Rapola, J., and Koskela, S. L. (1983) Neurology 33, 57-66
15. Renlund, M., Tietze, F., and Gahl, W. A. (1986) Science 232, 759-762
16. Tietze, F., Seppala, R., Renlund, M., Hopwood, J. J., Harper, G. S., Thomas, G. H., and Gahl, W. A. (1989) J. Biol. Chem. 264, 15316-15322
17. Reimer, R. J., and Edwards, R. H. (2004) Pfluegers Arch 447, 629-635
18. Kent, H. M., McMahon, H. T., Evans, P. R., Benmerah, A., and Owen, D. J. (2002) Structure (Camb.) 10, 1139-1148
19. Wreden, C. C., Johnson, J., Tran, C., Seal, R. P., Copenhagen, D. R., Reimer, R. J., and Edwards, R. H. (2003) J. Neurosci. 23, 1265-1275
20. Seal, R. P., Leighton, B. H., and Amara, S. G. (2000) Neuron 25, 695-706
21. Chaudhry, F. A., Reimer, R. J., Bellocchio, E. E., Danbolt, N. C., Osen, K. K., Edwards, R. H., and Storm-Mathisen, J. (1998) J. Neurosci. 18, 9733-9750
22. Hirschberg, C. B., Goodman, S. R., and Green, C. (1976) Biochemistry 15, 3591-3599
23. Bonifacino, J. S., and Traub, L. M. (2003) Annu. Rev. Biochem. 72, 395-447
24. Busch, A. E., Schuster, A., Waldegger, S., Wagner, C. A., Zempel, G., Broer, S., Biber, J., Murer, H., and Lang, F. (1996) Proc. Natl. Acad. Sci. U. S. A. 93, 5347-5351
25. Sandoval, I. V., Martinez-Arca, S., Valdueza, J., Palacios, S., and Holman, G. D. (2000) J. Biol. Chem. 275, 39874-39885
26. Mancini, G. M., de Jonge, H. R., Galjaard, H., and Verheijen, F. W. (1989) J. Biol. Chem. 264, 15247-15254
27. Mancini, G. M., Beerens, C. E., Aula, P. P., and Verheijen, F. W. (1991) J. Clin. Invest. 87, 1329-1335
28. Havelaar, A. C., Beerens, C. E., Mancini, G. M., and Verheijen, F. W. (1999) FEBS Lett. 446, 65-68
29. Aula, N., Jalanko, A., Aula, P., and Peltonen, L. (2002) Mol. Genet. Metab. 77, 99-107
30. Dietrich, J., Hou, X., Wegener, A. M., and Geisler, C. (1994) EMBO J. 13, 2156-2166
31. von Essen, M., Menne, C., Nielsen, B. L., Lauritsen, J. P., Dietrich, J., Andersen, P. S., Karjalainen, K., Odum, N., and Geisler, C. (2002) J. Immunol. 168, 4519-4523
32. Pitcher, C., Honing, S., Fingerhut, A., Bowers, K., and Marsh, M. (1999) Mol. Biol. Cell 10, 677-691
33. Blom, H. J., Andersson, H. C., Seppala, R., Tietze, F., and Gahl, W. A. (1990) Biochem. J. 268, 621-625
34. Bellocchio, E. E., Reimer, R. J., Fremeau, R. T., Jr., and Edwards, R. H. (2000) Science 289, 957-960
35. Golabek, A. A., Kida, E., Walus, M., Kaczmarski, W., Michalewski, M., and Wisniewski, K. E. (2000) Mol. Genet. Metab. 70, 203-213
36. Pearce, D. A., Ferea, T., Nosel, S. A., Das, B., and Sherman, F. (1999) Nat. Genet. 22, 55-58
37. Bröer, S., Schuster, A., Wagner, C. A., Bröer, A., Forster, I., Biber, J., Murer, H., Werner, A., Lang, F., and Busch, A. E. (1998) J. Membr. Biol. 164, 71-77
38. Chen, X. Z., Steel, A., and Hediger, M. A. (2000) Biochem. Biophys. Res. Commun. 272, 726-730
39. Kaback, H. R. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 5539-5543
40. Ulmschneider, M. B., and Sansom, M. S. (2001) Biochim. Biophys. Acta. 1512, 1-14
41. Lukacs, G. L., Mohamed, A., Kartner, N., Chang, X. B., Riordan, J. R., and Grinstein, S. (1994) EMBO J. 13, 6076-6086
42. Pasyk, E. A., and Foskett, J. K. (1995) J. Biol. Chem. 270, 12347-12350
43. Tamarappoo, B. K., and Verkman, A. S. (1998) J. Clin. Invest. 101, 2257-2267
44. Egan, M. E., Glockner-Pagel, J., Ambrose, C., Cahill, P. A., Pappoe, L., Balamuth, N., Cho, E., Canny, S., Wagner, C. A., Geibel, J., and Caplan, M. J. (2002) Nat. Med. 8, 485-492
45. Egan, M. E., Pearson, M., Weiner, S. A., Rajendran, V., Rubin, D., Glockner-Pagel, J., Canny, S., Du, K., Lukacs, G. L., and Caplan, M. J. (2004) Science 304, 600-602