Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome

@article{Fliesler2007PartialRO,
  title={Partial Rescue of Retinal Function and Sterol Steady-State in a Rat Model of Smith-Lemli-Opitz Syndrome},
  author={Steven J. Fliesler and Dana K. Vaughan and Erin C Jenewein and Michael S. Richards and Barbara A. Nagel and Neal S Peachey},
  journal={Pediatric Research},
  year={2007},
  volume={61},
  pages={273-278}
}
The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, failure to thrive, cognitive and behavioral impairments, and retinopathy. Using a pharmacologically induced rat model of SLOS that exhibits key hallmarks of the disease, including progressive retinal degeneration and dysfunction, we show that a high-cholesterol diet can… CONTINUE READING
13 Citations
37 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 37 references

Uptake of cholesterol by the retina occurs primarily via an LDL receptor-mediated process

  • N Tserentsoodol, J Sztein, +5 authors IR Rodriguez
  • Mol Vis
  • 2006
2 Excerpts

Similar Papers

Loading similar papers…