Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport

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

Volumn 101, Issue 16, 2004, Pages 5886-5891

  Sleat, David E ^a,b   Wiseman, Jennifer A ^a   El Banna, Mukarram ^a   Price, Sandy M ^a   Verot, Lucie ^c,d   Shen, Michael M ^a,b   Tint, G Stephen ^e,f   Vanier, Marie T ^c   Walkley, Steven U ^g   Lobel, Peter ^a,b  

^a RUTGERS UNIVERSITY   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^c INSERM   (France)

^d CENTRE HOSPITALIER LYON SUD   (France)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^g ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CELL PROTEIN; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN; PROTEIN NPC1; PROTEIN NPC2; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOACCUMULATION; CHEMICAL ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; DISEASE MARKER; FEMALE; GENETIC ANALYSIS; INTRACELLULAR TRANSPORT; LIPID TRANSPORT; LYSOSOME; MALE; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INDUCTION; PROTEIN PROTEIN INTERACTION; TISSUE DISTRIBUTION; XANTHOMA;

ANIMALS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; BLOTTING, NORTHERN; BLOTTING, WESTERN; CARRIER PROTEINS; DNA PRIMERS; GENOTYPE; GLYCOPROTEINS; LIPID METABOLISM; MICE; MUTATION; POLYMERASE CHAIN REACTION; PROTEINS;

ANIMALIA; MURINAE;

EID: 11144355005     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0308456101     Document Type: Article

References (27)

1. Ioannou, Y. A. (2001) Nat. Rev. Mol. Cell Biol. 2, 657-668.
2. Davies, J. P., Chen, F. W. & Ioannou, Y. A. (2000) Science 290, 2295-2298.
3. Okamura, N., Kiuchi, S., Tamba, M., Kashima, T., Hiramoto, S., Baba, T., Dacheux, F., Dacheux, J. L., Sugita, Y. & Jin, Y. Z. (1999) Biochim. Biophys. Acta 1438, 377-387.
4. Zervas, M., Somers, K. L., Thrall, M. A. & Walkley, S. U. (2001) Curr. Biol. 11, 1283-1287, 86.
5. Friedland, N., Liou, H.-L., Lobel, P. & Stock, A. M. (2003) Proc. Natl. Acad. Sci. USA 100, 2512-2517.
6. Ko, D. C., Binkley, J., Sidow, A. & Scott, M. P. (2003) Proc. Natl. Acad. Sci. USA 100, 2518-2525.
7. Pentchev, P. G., Gal, A. E., Booth, A. D., Omodeo-Sale, F., Fouks, J., Neumeyer, B. A., Quirk, J. M., Dawson, G. & Brady, R. O. (1980) Biochim. Biophys. Acta 619, 669-679.
8. Morris, M. D., Bhuvaneswaran, C., Shio, H. & Fowler, S. (1982) Am. J. Pathol. 108, 140-149.
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., et al. (1997) Science 277, 232-235.
10. Shio, H., Fowler, S., Bhuvaneswaran, C. & Morris, M. D. (1982) Am. J. Pathol. 108, 150-159.
11. Bradford, M. M. (1976) Anal. Biochem. 72, 248-254.
12. Valenzano, K. J., Kallay, L. M. & Lobel, P. (1993) Anal. Biochem. 209, 156-162.
13. Tint, G. S., Pentchev, P., Xu, G., Batta, A. K., Shefer, S., Salen, G. & Honda, A. (1998) J. Inherit. Metab. Dis. 21, 853-863.
14. Fujita, N., Suzuki, K., Vanier, M. T., Popko, B., Maeda, N., Klein, A., Henseler, M., Sandhoff, K. & Nakayasu, H. (1996) Hum. Mol. Genet. 5, 711-725.
15. Kyrklund, T. (1987) Lipids 22, 274-277.
16. Liu, Y., Wu, Y. P., Wada, R., Neufeld, E. B., Mullin, K. A., Howard, A. C., Pentchev, P. G., Vanier, M. T., Suzuki, K. & Proia, R. L. (2000) Hum. Mol. Genet. 9, 1087-1092.
17. Zervas, M., Dobrenis, K. & Walkley, S. U. (2001) J. Neuropathol. Exp. Neurol. 60, 49-64.
18. Millat, G., Chikh, K., Naureckiene, S., Sleat, D. E., Fensom, A. H., Higaki, K., Elleder, M., Lobel, P. & Vanier, M. T. (2001) Am. J. Hum. Genet. 69, 1013-1021.
19. Erickson, R. P., Aviles, R. A., Zhang, J., Kozloski, M. A., Garver, W. S. & Heidenreich, R. A. (1997) Mamm. Genome 8, 355-356.
20. Zhang, J. & Erickson, R. P. (2000) Mamm. Genome 11, 69-71.
21. Miyawaki, S., Yoshida, H., Mitsuoka, S., Enomoto, H. & Ikehara, S. (1986) J. Hered. 77, 379-384.
22. Patterson, M. C., Vanier, M. T., Suzuki, S., Morris, J. A., Carstea, E., Neufeld, E. B., Blanchette-Mackie, J. E. & Pentchev, P. G. (2001) in The Metabolic and Molecular Bases of Inherited Disease (McGraw-Hill, New York), 8th Ed., pp. 3611-3634.
23. Vanier, M. T. (1999) Neurochem. Res. 24, 481-489.
24. Xie, C., Turley, S. D., Pentchev, P. G. & Dietschy, J. M. (1999) Am. J. Physiol. 276, E336-E344.
25. Karten, B., Vance, D. E., Campenot, R. B. & Vance, J. E. (2002) J. Neurochem. 83, 1154-1163.
26. Walkley, S. U. (1998) Brain Pathol. 8, 175-193.
27. Litrenta, J., Adeshuko, F., Zhou, S., Stephney, G., Wiseman, J., Dobrenis, K., Sleat, D., Lobel, P. & Walkley, S. (2003) 2003 Abstract Viewer/Itinerary Planner (Society for Neuroscience Washington, DC), Online Program No. 537.15 (http://sfn.scholarone.com/itin2003/index.html).