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

@article{Karan2005LipofuscinAA,
  title={Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.},
  author={Goutam Karan and Concepci{\'o}n Lillo and Zhenglin Yang and D. Joshua Cameron and Kirsten G. Locke and Yongge Zhao and Sukanya Thirumalaichary and Chunyan Li and David G.W. Birch and Heidi R. Vollmer-Snarr and David S Williams and Kun Zhang},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2005},
  volume={102 11},
  pages={
          4164-9
        }
}
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 to encode an enzyme involved in the elongation of long-chain fatty acids. We generated transgenic mice expressing a mutant form of human ELOVL4 that causes STGD. In these mice, we show that… CONTINUE READING

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