Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids.

@article{Agbaga2008RoleOS,
  title={Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids.},
  author={Martin-Paul Agbaga and Richard S. Brush and Md Nawajes Ali Mandal and Kimberly R Henry and Michael H. Elliott and Robert E. Anderson},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2008},
  volume={105 35},
  pages={12843-8}
}
Stargardt-like macular dystrophy (STGD3) is a dominantly inherited juvenile macular degeneration that eventually leads to loss of vision. Three independent mutations causing STGD3 have been identified in exon six of a gene named Elongation of very long chain fatty acids 4 (ELOVL4). The ELOVL4 protein was predicted to be involved in fatty acid elongation, although evidence for this and the specific step(s) it may catalyze have remained elusive. Here, using a gain-of-function approach, we provide… CONTINUE READING

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