Lipofuscin Accumulation, Abnormal Electrophysiology, and Photoreceptor Degeneration in Mutant ELOVL4 Transgenic Mice: A Model for Macular Degeneration

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 102; no. 11; pp. 4164 - 4169
• Main Authors: Karan, G., Lillo, C., Yang, Z., Cameron, D. J., Locke, K. G., Zhao, Y., Thirumalaichary, S., Li, C., Birch, D. G., Vollmer-Snarr, H. R., Williams, D. S., Zhang, K., Nathans, Jeremy
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 15.03.2005; National Acad Sciences
• Subjects: Animals; Biological Sciences; Complementary DNA; Disease Models, Animal; Electrophysiology; Eye Proteins - genetics; Eye Proteins - metabolism; Fatty acids; Gene expression; Humans; Isomers; Lipofuscin - metabolism; Macular degeneration; Macular Degeneration - genetics; Macular Degeneration - metabolism; Membrane Proteins - genetics; Membrane Proteins - metabolism; Mice; Mice, Transgenic; Microscopy, Electron; Mutation; Neurology; Photoreceptor Cells - metabolism; Photoreceptor Cells - ultrastructure; Photoreceptors; Polymerase chain reaction; Retina; Retina - metabolism; Retina - pathology; Reverse transcriptase polymerase chain reaction; Transgenes; Transgenic animals

Macular degeneration is a heterogeneous group of disorders characterized by photoreceptor degeneration and atrophy of the retinal pigment epithelium (RPE) in the central retina. An autosomal dominant form of Stargardt macular degeneration (STGD) is caused by mutations in ELOVL4, which is predicted t...