Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival

@article{Cameron2007EssentialRO,
  title={Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival},
  author={Daniel J. Cameron and Zongzhong Tong and Zhenglin Yang and Jack Kaminoh and Shin Kamiyah and Haoyu Chen and Jiexi Zeng and Yali Chen and Ling Fei Luo and Kang Zhang},
  journal={International Journal of Biological Sciences},
  year={2007},
  volume={3},
  pages={111 - 119}
}
Mutations in the gene ELOVL4 have been shown to cause stargardt-like macular dystrophy. ELOVL4 is part of a family of fatty acid elongases and is yet to have a specific elongase activity assigned to it. We generated Elovl4 Y270X mutant mice and characterized the homozygous mutant as well as homozygous Elovl4 knockout mice in order to better understand the function or role of Elovl4. We found that mice lacking a functional Elovl4 protein died perinatally. The cause of death appears to be from… CONTINUE READING

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5-Bp-Deletion Mutant ELOVL4 Protein Causes Altered Localization of the Wild Type ELOVL4 Protein in COS-7 Cells- Probable Mechanism Underlying Stargardt's-Like Macular Degeneration

  • V Vasireddy, XF Wang, +5 authors R. Ayyagari
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