A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling

Proceedings of the National Academy of Sciences of the United States of America

Volumn 99, Issue 26, 2002, Pages 17119-17124

  Karlström, Helena ^a   Beatus, Paul ^a   Dannaeus, Karin ^a   Chapman, Gavin ^a   Lendahl, Urban ^a   Lundkvist, Johan ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Cysteine residue; Delta; Neurological disease; Protein transport; Serrate

Indexed keywords

NOTCH RECEPTOR; NOTCH3 RECEPTOR; RECEPTOR; UNCLASSIFIED DRUG;

ARTERY DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL LINE; CELL SURFACE; CONTROLLED STUDY; HUMAN; HUMAN CELL; INFARCTION; LEUKOENCEPHALOPATHY; MATURATION; PRIORITY JOURNAL; WILD TYPE;

3T3 CELLS; ANIMALS; CALCIUM-BINDING PROTEINS; CELL LINE; DEMENTIA, MULTI-INFARCT; GENE EXPRESSION REGULATION; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MICE; MUTATION; PROTEIN TRANSPORT; PROTEINS; PROTO-ONCOGENE PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, CYTOKINE; RECEPTORS, NOTCH;

MURINAE;

EID: 0037168593     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.252624099     Document Type: Article

References (29)

1. Artavanis-Tsakonas, S., Rand, M. D. & Lake, R. J. (1999) Science 284, 770-776.
2. Logeat, F., Bessia, C., Brou, C., LeBail, O., Jarriault, S., Seidah, N. G. & Israel, A. (1998) Proc. Natl. Acad. Sci. USA 95, 8108-8112.
3. Brou, C., Logeat, F., Gupta, N., Bessia, C., LeBail, O., Doedens, J. R., Cumano, A., Roux, P., Black, R. A. & Israel, A. (2000) Mol. Cell 5, 207-216.
4. Mumm, J. S., Schroeter, E. H., Saxena, M. T., Griesemer, A., Tian, X., Pan, D. J., Ray, W. J. & Kopan, R. (2000) Mol. Cell 2, 197-206.
5. De Strooper, B., Annaert, W., Cupers, P., Saftig, P., Craessaerts, K., Mumm, J. S., Schroeter, E. H., Schrijvers, V., Wolfe, M. S., Ray, W. J., Goate, A. & Kopan, R. (1999) Nature 398, 518-522.
6. Joutel, A., Vahedi, K., Corpechot, C., Troesch, A., Chabriat, H., Vayssiere, C., Cruaud, C., Maciazek, J., Weissenbach, J., Bousser, M. G., Bach, J. F. & Tournier-Lasserve, E. (1997) Lancet 350, 1511-1515.
7. Bogaert, V. (1955) Med. Hellen. 24, 961-972.
8. Larsson, C., Lardelli, M., White, I. & Lendahl, U. (1994) Genomics 24, 253-258.
9. Joutel, A., Corpechot, C., Ducros, A., Vahedi, K., Chabriat, H., Mouton, P., Alamowitch, S., Domenga, V., Cecillion, M., Marechal, E., et al. (1996) Nature 383, 707-710.
10. Joutel, A., Andreux, F., Gaulis, S., Domenga, V., Cecillon, M., Battail, N., Piga, N., Chapon, F., Godfrain, C. & Tournier-Lasserve, E. (2000) J. Clin. Invest. 105, 597-605.
11. Taniguchi, Y., Karlström, H., Lundkvist, J., Mizutani, T., Otaka, A., Vestling, M., Bernstein, A., Donoviel, D., Lendahl, U. & Honjo, T. (2002) Proc. Natl. Acad. Sci. USA 99, 4014-4019.
12. Beatus, P., Lundkvist, J., Oberg, C. & Lendahl, U. (1999) Development (Cambridge, U.K.) 126, 3925-3935.
13. Karlstrom, H., Bergman, A., Lendahl, U., Naslund, J. & Lundkvist, J. (2002) J. Biol. Chem. 277, 6763-6766.
14. Beatus, P., Lundkvist, J., Oberg, C., Pedersen, K. & Lendahl, U. (2001) Mech. Dev. 104, 3-20.
15. Kuroda, K., Tani, S., Tamura, K., Minoguchi, S., Kurooka, H. & Honjo, T. (1999) J. Biol. Chem. 274, 7238-7244.
16. Aridor, M. & Balch, W. E. (1999) Nat. Med. 5, 745-751.
17. Kaufman, R. J. (1999) Genes Dev. 13, 1211-1233.
18. Kopito, R. R. & Ron, D. (2000) Nat. Cell Biol. 2, E207-E209.
19. Pelham, H. R. (1991) Cell 67, 449-451.
20. Johnston, J. A., Ward C. L. & Kopito R. R. (1998) J. Cell Biol. 143, 1883-1898.
21. Godfrey, M., Olson, S., Burgio, R. G., Martini, A., Valli, M., Cetta, G., Hori, H. & Hollister, D. W. (1990) Am. J. Hum. Genet. 46, 661-671.
22. Blaumueller, C. M., Qi, H., Zagouras, P. & Artavanis-Tsakonas, S. (1997) Cell 90, 281-291.
23. Haritunians, T., Boulter, J., Hicks, C., Buhrman, J., DiSibio, G., Shawber, C., Weinmaster, G., Nofziger, D. & Schanen, C. (2002) Circ. Res. 90, 506-508.
24. Prakash, N., Hansson, E., Betsholtz, C., Mitsiadis, T. & Lendahl, U. (2002) Exp. Cell Res. 278, 31-44.
25. Lardelli, M., Dahlstrand, J. & Lendahl, U. (1994) Mech. Dev. 46, 123-136.
26. Conlon, R. A., Reaume, A. G. & Rossant, J. (1995) Development (Cambridge, U.K.) 121, 1533-1545.
27. Hamada, Y., Kadokawa, Y., Okabe, M., Ikawa, M., Coleman, J. R. & Tsujimoto, Y. (1999) Development (Cambridge, U.K.) 126, 3415-3424.
28. Lardelli, M., Williams, R., Mitsiadis, T. & Lendahl, U. (1996) Mech. Dev. 59, 177-190.
29. Spinner, N. B. (2000) J. Clin. Invest. 105, 561-562.