| First Author | McMahon A | Year | 2007 |
| Journal | FEBS Lett | Volume | 581 |
| Issue | 28 | Pages | 5459-63 |
| PubMed ID | 17983602 | Mgi Jnum | J:127735 |
| Mgi Id | MGI:3764758 | Doi | 10.1016/j.febslet.2007.10.050 |
| Citation | McMahon A, et al. (2007) A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. FEBS Lett 581(28):5459-63 |
| abstractText | 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 mechanisms: truncated protein-induced cellular stress and lipid product deficiency. Analysis of mutant retinas detected no cellular stress but demonstrated selective deficiency of C32-C36 acyl phosphatidylcholines. We conclude that this deficit leads to the human STGD3 pathology. |
