Neurodegeneration in heterozygous Niemann-Pick type C1 (NPC1) mouse: Implication of heterozygous NPC1 mutations being a risk for tauopathy

Journal of Biological Chemistry

Volumn 280, Issue 29, 2005, Pages 27296-27302

  Yu, Wenxin ^a   Ko, Mihee ^a   Yanagisawa, Katsuhiko ^a   Michikawa, Makoto ^a  

^a NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODIES; BRAIN; CHOLESTEROL; ENZYMES; GENES; LIVING SYSTEMS STUDIES; NEUROLOGY;

CHOLESTROL TRAFFICKING; NEURODEGENERATION; NIEMANN-PICK TYPE C1 (NPC1) DISEASE; STRESS-ACTIVATED PROTEINS;

DISEASES;

ADENOSINE TRIPHOSPHATE; ANTIBODY; CYCLIN DEPENDENT KINASE 5; GLYCOGEN SYNTHASE KINASE 3BETA; MITOGEN ACTIVATED PROTEIN KINASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; SERINE; STRESS ACTIVATED PROTEIN KINASE; TAU PROTEIN; THREONINE;

ADOLESCENT; AGED; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; CEREBELLUM; CHOLESTEROL TRANSPORT; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENZYME ACTIVATION; GENE; GENE MUTATION; HETEROZYGOSITY; IMMUNOBLOTTING; LIPID RAFT; MOUSE; NERVE DEGENERATION; NERVE FUNCTION; NIEMANN PICK DISEASE; NONHUMAN; NPC1 GENE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PURKINJE CELL; TAUOPATHY;

ADENOSINE TRIPHOSPHATE; AGING; ANIMALS; BRAIN; BRAIN CHEMISTRY; CHOLESTEROL; HETEROZYGOTE; MICE; MICE, INBRED BALB C; MICE, MUTANT STRAINS; MUTATION; NERVE DEGENERATION; NIEMANN-PICK DISEASES; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; PURKINJE CELLS; TAU PROTEINS; TAUOPATHIES;

EID: 22844451171     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M503922200     Document Type: Article

References (38)

1. Patterson, M. C., Vanier, M. T., Suzuki, K., Morris, J. A., Carstea, E. D., Neufeld, E. B., Blanchette Mackie, E. J., and Pentchev, P. G. (2001) in The Metabolic and Molecular Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds) pp. 3611-3633, McGraw-Hill Inc., New York
2. Liscum, L., Ruggiero, R. M., and Faust, J. R. (1989) J. Cell Biol. 108, 1625-1636
3. Pentchev, P. G., Kruth, H. S., Comly, M. E., Butler, J. D., Vanier, M. T., Wenger, D. A, and Patel, S. (1986) J. Biol. Chem. 261, 16775-16780
4. Kobayashi, T., Beuchat, M. H., Lindsay, M., Frias, S., Palmiter, R. D., Sakuraba, H., Parton, R. G., and Gruenberg, J. (1999) Nat. Cell Biol. 1, 113-118
5. Cruz, J. C., and Chang, T. Y. (2000) J. Biol. Chem. 275, 41309-41316
6. Sawamura, N., Gong, J. S., Garver, W. S., Heidenreich, R. A., Ninomiya, H., Ohno, K., Yanagisawa, K., and Michikawa, M. (2001) J. Biol. Chem. 276, 10314-10319
7. 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
8. Carstea, E. D., Morris, J. A., Coleman, K. G., Loftus, S. K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M. A., Pavan, W. J., Krizman, D. B., Nagle, J., Polymeropoulos, M. H., Sturley, S. L., Ioannou, Y. A., Higgins, M. E., Comly, M., Cooney, A., Brown, A., Kaneski, C. R., Blanchette-Mackie, E. J., Dwyer, N. K., Neufeld, E. B., Chang, T. Y., Liscum, L., Strauss, J. F., III, Ohno, K., Zeigler, M., Carmi, R., Sokol, J., Markie, D., O'Neill, R. R., van Diggelen, O. P., Elleder, M., Patterson, m. C., Brady, R. O., Vanier, M. T., Pentchev, P. G., and Tagle, D. A. (1997) Science 277, 228-231
9. Liscum, L., and Klansek, J. J. (1998) Curr. Opin. Lipidol. 9, 131-135
10. Neufeld, E. B., Wastney, M., Patel, S., Suresh, S., Cooney, A. M., Dwyer, N. K., Roff, C. F., Ohno, K., Morris, J. A., Carstea, E. D., Incardona, J. P., Strauss, J. F., III, Vanier, M. T., Patterson, M. C., Brady, R. O., Pentchev, P. G., and Blanchette-Mackie, E. J. (1999) J. Biol. Chem. 274, 9627-9635
11. Garver, W. S., Heidenreich, R. A., Erickson, R. P., Thomas, M. A., and Wilson, J. M. (2000) J. Lipid Res. 41, 673-687
12. Wojtanik, K. M., and Liscum, L. (2003) J. Biol. Chem. 278, 14850-14856
13. Suzuki, K., Parker, C. C., Pentchev, P. G., Katz, D., Ghetti, B., D'Agostino, A. N., and Carstea, E. D. (1995) Acta Neuropathol. 89, 227-238
14. Love, S., Bridges, L. R., and Case, C. P. (1995) Brain 118, 119-129
15. Auer, I. A., Schmidt, M. L., Lee, V. M., Curry, B., Suzuki, K., Shin, R. W., Pentchev, P. G., Carstea, E. D., and Trojanowski, J. Q. (1995) Acta Neuropathol. 90, 547-551
16. Bu, B., Li, J., Davies, P., and Vincent, I. (2002) J. Neurosci. 22, 6515-6525
17. Sawamura, N., Gong, J. S., Chang, T. Y., Yanagisawa, K., and Michikawa, M. (2003) J. Neurochem. 84, 1086-1096
18. Karten, B., Vance, D. E., Campenot, R. B., and Vance, J. E. (2003) J. Biol. Chem. 278, 4168-4175
19. Walkley, S. U., Siegel, D. A., Dobrenis, K., and Zervas, M. (1998) Ann. N. Y. Acad. Sci. 845, 188-199
20. Liu, Y., Wu, Y. P., Wada, R., Neufeld, E. B., Mullin, K. A., Howard, A. C., Pentchev, P. G., Vanier, M. T., Suzuki, K., and Proia, R. L. (2000) Hum. Mol. Genet. 9, 1087-1092
21. Griffin, L. D., Gong, W., Verot, L., and Mellon, S. H. (2004) Nat. Med. 10, 704-711
22. Yu, W., Gong, J. S., Ko, M., Garver, W. S., Yanagisawa, K., and Michikawa, M. (2005) J. Biol. Chem.
23. Kruth, H. S., Comly, M. E., Butler, J. D., Vanier, M. T., Fink, J. K., Wenger, D. A., Patel, S., and Pentchev, P. G. (1986) J. Biol. Chem. 261, 16769-16774
24. Vanier, M. T., Wenger, D. A., Comly, M. E., Rousson, R., Brady, R. O., and Pentchev, P. G. (1988) Clin. Genet. 33, 331-348
25. Vanier, M. T., Rodriguez-Lafrasse, C., Rousson, R., Gazzah, N., Juge, M. C., Pentchev, P. G., Revol, A., and Louisot, P. (1991) Biochim. Biophys. Acta 1096, 328-337
26. Garver, W. S., Krishnan, K., Gallagos, J. R., Michikawa, M., Francis, G. A., and Heidenreich, R. A. (2002) J. Lipid Res. 43, 579-589
27. Choi, H. Y., Karten, B., Chan, T., Vance, J. E., Greer, W. L., Heidenreich, R. A., Garver, W. S., and Francis, G. A. (2003) J. Biol. Chem. 278, 32569-32577
28. Feng, B., Zhang, D., Kuriakose, G., Devlin, C. M., Kockx, M., and Tabas, I. (2003) Proc. Natl. Acad. Sci. U. S. A. 100, 10423-10428
29. Michikawa, M., Fan, Q. W., Isobe, I., and Yanagisawa, K. (2000) J. Neurochem. 74, 1008-1016
30. Henderson, L. P., Lin, L., Prasad, A., Paul, C. A., Chang, T. Y., and Maue, R. A. (2000) J. Biol. Chem. 275, 20179-20187
31. Wang, P. Y., Liu, P., Weng, J., Sontag, E., and Anderson, R. G. (2003) EMBO J. 22, 2658-2667
32. Fan, Q. W., Yu, W., Senda, T., Yanagisawa, K., and Michikawa, M. (2001) J. Neurochem. 76, 391-400
33. Green, D. R., and Reed, J. C. (1998) Science 281, 1309-1312
34. Lang-Rollin, I. C., Rideout, H. J., Noticewala, M., and Stefanis, L. (2003) J. Neurosci. 23, 11015-11025
35. Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., Lincoln, S., Dickson, D., Davies, P., Petersen, R. C., Stevens, M., de Graaff, E., Wauters, E., van Baren, J., Hillebrand, M., Joosse, M., Kwon, J. M., Nowotny, P., Che, L. K., Norton, J., Morris, J. C., Reed, L. A., Trojanowski, J., Basun, H., Lannfelt, L., Neystat, M., Fahn, S., Dark, F., Tannenberg, T., Dodd, P. R., Hayward, N., Kwok, J. B., Schofield, P. R., Andreadis, A., Snowden, J., Craufurd, D., Neary, D., Owen, F., Oostra, B. A., Hardy, J., Goate, A., van Swieten, J., Mann, D., Lynch, T., and Heutink, P. (1998) Nature 393, 702-705
36. Poorkaj, P., Bird, T. D., Wijsman, E., Nemens, E., Garruto, R. M., Anderson, L., Andreadis, A., Wiederholt, W. C., Raskind, M., and Schellenberg, G. D. (1998) Ann. Neurol. 43, 815-825
37. Bush, M. L., Miyashiro, J. S., and Ingram, V. M. (1995) Proc. Natl. Acad. Sci. U. S. A. 92, 1861-1865
38. Mizukami, Y., Iwamatsu, A., Aki, T., Kimura, M., Nakamura, K., Nao, T., Okusa, T., Matsuzaki, M., Yoshida, K., and Kobayashi, S. (2004) J. Biol. Chem. 279, 50120-50131