Article
Mouse Models of Stargardt 3 Dominant Macular Degeneration.
Advances in experimental medicine and biology - 1 Jan 2016
Barabas Peter, Gorusupudi Aruna, Bernstein Paul S, Krizaj David
Abstract excerpt
Stargardt type 3 macular degeneration is dependent on a dominant defect in a single gene, ELOVL4 (elongase of very long chain fatty acids 4). The encoded enzyme, ELOVL4, is required for the synthesis of very long chain polyunsaturated fatty acids (VLC-PUFAs), a rare class of > C24 lipids. In vitro expression studies suggest that mutated ELOVL4(STGD3) proteins fold improperly, resulting in ER stress and formation...
Topics
- Animals
- Disease Models, Animal
- Eye Proteins
- Fatty Acids, Unsaturated
- Humans
- Macular Degeneration
- Membrane Proteins
- Mice, Knockout
- Mice, Transgenic
- Mutation
- Stargardt Disease