Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

@article{Matabosch2010IncreasingCS,
  title={Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer},
  author={Xavier Matabosch and Lee Suat Ying and Montserrat Serra and Christopher A Wassif and Gordon Watson},
  journal={The Journal of Steroid Biochemistry and Molecular Biology},
  year={2010},
  volume={122},
  pages={303-309}
}
Smith-Lemli-Opitz syndrome (SLOS) is caused by deficiency in the terminal step of cholesterol biosynthesis: the conversion of 7-dehydrocholesterol (7DHC) to cholesterol (C), catalyzed by 7-dehydrocholesterol reductase (DHCR7). This disorder exhibits several phenotypic traits including dysmorphia and mental retardation with a broad range of severity. There are few proven treatment options. That most commonly used is a high cholesterol diet that seems to enhance the quality of life and improve… CONTINUE READING

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