Article
A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines.
FEBS letters - 27 Nov 2007
McMahon Anne, Jackson Shelley N, Woods Amina S, Kedzierski Wojciech
Abstract excerpt
Stargardt disease-3 (STGD3) is a juvenile dominant macular degeneration caused by mutations in elongase of very long chain fatty acid-4. All identified mutations produce a truncated protein which lacks a motif for protein retention in endoplasmic reticulum, the site of fatty acid synthesis. In these studies of Stgd3-knockin mice carrying a human pathogenic mutation, we examined two potential pathogenic...
Topics
- Animals
- Cell Extracts
- Eye Proteins
- Heterozygote
- Mass Spectrometry
- Membrane Proteins
- Mice
- Mice, Transgenic
- Mutation
- Phosphatidylcholines
- Protein Folding