Methods of screening and diagnostics using ATP-binding cassette transporter

作者: Noah F. Shroyer , Kent L. Anderson , Yixin Li , Richard A. Lewis , Jeremy Nathans

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摘要: The present invention provides nucleic acid and amino sequences of an ATP binding cassette transporter mutated thereof associated with macular degeneration. Methods detecting agents that modify ATP-binding comprising combining purified at least one agent suspected modifying the observing a change in characteristic transporter. degeneration is also embodied by invention.

参考文章(88)
J J Weiter, G C Blanchard, G L Wing, The topography and age relationship of lipofuscin concentration in the retinal pigment epithelium. Investigative Ophthalmology & Visual Science. ,vol. 17, pp. 601- 607 ,(1978)
L Feeney, Lipofuscin and melanin of human retinal pigment epithelium. Fluorescence, enzyme cytochemical, and ultrastructural studies. Investigative Ophthalmology & Visual Science. ,vol. 17, pp. 583- 600 ,(1978)
J J Weiter, F C Delori, K A Fitch, G L Wing, Retinal pigment epithelial lipofuscin and melanin and choroidal melanin in human eyes. Investigative Ophthalmology & Visual Science. ,vol. 27, pp. 145- 152 ,(1986)
Michael F. Marmor, Keith M. Zinn, The Retinal pigment epithelium Harvard University Press. ,(1979)
A Munnich, E Souied, A Camuzat, J M Rozet, D Bonneau, J Weissenbach, S Gerber, J L Dufier, P Amalric, J Kaplan, A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. American Journal of Human Genetics. ,vol. 56, pp. 396- 399 ,(1995)
S L Fong, G I Liou, R A Landers, R A Alvarez, C D Bridges, Purification and characterization of a retinol-binding glycoprotein synthesized and secreted by bovine neural retina. Journal of Biological Chemistry. ,vol. 259, pp. 6534- 6542 ,(1984) , 10.1016/S0021-9258(20)82174-7
E. H. Hettema, C. W. van Roermund, B. Distel, M. van den Berg, C. Vilela, C. Rodrigues-Pousada, R. J. Wanders, H. F. Tabak, The ABC transporter proteins Pat1 and Pat2 are required for import of long‐chain fatty acids into peroxisomes of Saccharomyces cerevisiae. The EMBO Journal. ,vol. 15, pp. 3813- 3822 ,(1996) , 10.1002/J.1460-2075.1996.TB00755.X
Robert W. Nickells, Harry A. Quigley, Donald J. Zack, Claude F. Burgoyne, Cloning and characterization of rod opsin cDNA from the Old World monkey, Macaca fascicularis. Investigative Ophthalmology & Visual Science. ,vol. 36, pp. 72- 82 ,(1995)