Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.

@article{Grayson2005DominantNM,
  title={Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4.},
  author={Celene Grayson and Robert S Molday},
  journal={The Journal of biological chemistry},
  year={2005},
  volume={280 37},
  pages={
          32521-30
        }
}
ELOVL4 (elongation of very long chain fatty acids 4) is a member of the ELO family of proteins involved in the biosynthesis of very long chain fatty acids. Protein truncation mutations in ELOVL4 have been identified in patients with autosomal dominant Stargardt-like macular degeneration. To determine whether a dominant negative mechanism is responsible for the autosomal dominant inheritance pattern of this disease, we studied the subcellular localization and interaction of wild type and mutant… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 49 CITATIONS

Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2013
VIEW 5 EXCERPTS
CITES METHODS, RESULTS & BACKGROUND
HIGHLY INFLUENCED

Remodeling of Retinal Fatty Acids in an Animal Model of Diabetes

VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

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

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2008
VIEW 7 EXCERPTS
CITES BACKGROUND & RESULTS
HIGHLY INFLUENCED