Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.

@article{Vasireddy2005StargardtlikeMD,
  title={Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.},
  author={Vidyullatha Vasireddy and Camasamudram Vijayasarathy and Jibiao Huang and Xiaofei F Wang and Monica M Jablonski and Howard R. Petty and Paul A. Sieving and Radha Ayyagari},
  journal={Molecular vision},
  year={2005},
  volume={11},
  pages={665-76}
}
PURPOSE Mutations in the gene Elongation of very long-chain fatty acids-4 (ELOVL4) have been shown to be associated with autosomal dominant Stargardt-like macular dystrophy (STGD3). ELOVL4 is expressed in photoreceptors and encodes a putative transmembrane protein of 314 amino acids with an endoplasmic reticulum (ER) retention signal. A 5 bp deletion in exon 6 of ELOVL4 observed in some STGD3 patients results in the truncation of the protein and loss of the ER retention signal. To understand… CONTINUE READING
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