Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: A model for macular degeneration

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

Volumn 102, Issue 11, 2005, Pages 4164-4169

  Karan, G ^a   Lillo, C ^b   Yang, Z ^a   Cameron, D J ^a,d   Locke, K G ^c   Zhao, Y ^a   Thirumalaichary, S ^a   Li, C ^a   Birch, D G ^c   Vollmer Snarr, H R ^d   Williams, D S ^b   Zhang, K ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^d Brigham Young University   (United States)

Author keywords

Phagosome; Photoreceptor; Retinal pigment epithelium; Stargardt disease

Indexed keywords

2[2,6 DIMETHYL 8(2,6,6 TRIMETHYL 1 CYCLOHEXEN 1 YL) OCTATETRAENYL] 1(2 HYDROXYETHYL) 4[4 METHYL 6 (2,6,6 TRIMETHYL 1 CYCLOHEXEN 1 YL) HEXATRIENYL] PYRIDINIUM; ENZYME; FLUORESCENT DYE; LIPOFUSCIN; PROTEIN ELOVL4; UNCLASSIFIED DRUG;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; GENE FUNCTION; GENE MUTATION; MOUSE; NONHUMAN; PHAGOSOME; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA DEGENERATION; STARGARDT DISEASE; TRANSGENIC MOUSE;

ANIMALS; DISEASE MODELS, ANIMAL; ELECTROPHYSIOLOGY; EYE PROTEINS; HUMANS; LIPOFUSCIN; MACULAR DEGENERATION; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MICROSCOPY, ELECTRON; PHOTORECEPTORS; RETINA;

EID: 20144374260     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0407698102     Document Type: Article

References (27)

1. Bressler, N. M., Bressler, S. B. & Fine, S. L. (1988) Surv. Ophthalmol. 32, 375-413.
2. Friedman, D. S., O'Colmain, B. J., Munoz, B., Tomany, S. C., McCarty, C., de Jong, P. T., Nemesure, B., Mitchell, P. & Kempen, J. (2004) Arch. Ophthalmol. 122, 564-572.
3. Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M. L., Allikmets, R., Zack, D. J., et al. (2001) Nat. Genet. 27, 89-93.
4. Edwards, A. O., Donoso, L. A. & Ritter, R., III (2001) Invest. Ophthalmol. Vis. Sci. 42, 2652-2663.
5. Zhang, X. M., Yang, Z., Karan, G., Hashimoto, T., Baehr, W., Yang, X. J. & Zhang, K. (2003) Mol. Vis. 9, 301-307.
6. Mandal, M. N., Ambasudhan, R., Wong, P. W., Gage, P. J., Sieving, P. A. & Ayyagari, R. (2004) Genomics 83, 615-625.
7. Cinti, D. L., Cook, L., Nagi, M. N. & Suneja, S. K. (1992) Progr. Lipid Res. 31, 1-51.
8. Tvrdik, P., Westerberg, R., Silve, S., Asadi, A., Jakobsson, A., Cannon, B., Loison, G. & Jacobsson, A. (2000) J. Cell Biol. 149, 707-718.
9. Bernstein, P. S., Tammur, J., Singh, N., Hutchinson, A., Dixon, M., Pappas, C. M., Zabriskie, N. A., Zhang, K., Petrukhin, K., Leppert, M. & Allikmets, R. (2001) Invest. Ophthalmol. Vis. Sci. 42, 3331-3336.
10. Maugeri, A., Meire, F., Hoyng, C. B., Vink, C., Van Regemorter, N., Karan, G., Yang, Z., Cremers, F. P. & Zhang, K. (2004) Invest. Ophthalmol. Vis. Sci. 45, 4263-4267.
11. MacDonald, I. M., Hebert, M., Yau, R. J., Flynn, S., Jumpsen, J., Suh, M. & Clandinin, M. T. (2004) Br. J. Ophthalmol. 88, 305-306.
12. Hubbard, A. F., Askew, E. W., Singh, N., Leppert, M. & Bernstein, P. S. (2005) Arch. Ophthalmol., in press.
13. Liou, G. I., Geng, L., al-Ubaidi, M. R., Matragoon, S., Hanten, G., Baehr, W. & Overbeek, P. A. (1990) J. Biol. Chem. 265, 8373-8376.
14. Locke, K. & Birch, D. G. (2004) J. Ophthal. Photogr. 26, 81-83.
15. Marmor, M. F. (1989) Doc. Ophthalmol. 73, 299-302.
16. Hood, D. C. & Birch, D. G. (1993) Vision Res, 33, 1605-1618.
17. Birch, D. G., Hood, D. C., Nusinowitz, S. & Pepperberg, D. R. (1995) Invest. Ophthalmol. Vis. Sci. 36, 1603-1614.
18. Parish, C. A., Hashimoto, M., Nakanishi, K., Dillon, J. & Sparrow, J. (1998) Proc. Natl. Acad. Sci. USA 95, 14609-14613.
19. Fleisler, S. & Anderson, R. (1983) Progr. Lipid Res. 22, 79-131.
20. Converse, C. A., Hammer, H. M., Packard, C. J. & Shepherd, J. (1983) Trans. Ophthalmol. Soc. U.K. 103, 508-512.
21. Hoffman, D. R. & Birch, D. G. (1995) Invest. Ophthalmol. Vis. Sci. 36, 1009-1018.
22. Anderson, R. E., Maude, M. B., McClellan, M., Matthes, M. T., Yasumura, D. & LaVail, M. M. (2002) Mol. Vis. 8, 351-358.
23. Feeney-Burns, L. & Eldred, G. E. (1983) Trans. Ophthalmol. Soc. U.K. 103, 416-421.
24. Eldred, G. E. & Katz, M. L. (1988) Exp. Eye Res. 47, 71-86.
25. Eldred, G. E. & Lasky, M. R. (1993) Nature 361, 724-726.
26. Weng, J., Mata, N. L., Azarian, S. M., Tzekov, R. T., Birch, D. G. & Travis, G. H. (1999) Cell 98, 13-23.
27. Radu, R. A., Mata, N. L., Nusinowitz, S., Liu, X., Sieving, P. A. & Travis, G. H. (2003) Proc. Natl. Acad. Sci. USA 100, 4742-4747.