A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

@article{Cooper2003ADR,
  title={A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis},
  author={Michael K. Cooper and Christopher A Wassif and Patrycja A. Krakowiak and Jussi Taipale and Ruoyu Gong and Richard I Kelley and Forbes D Porter and Philip A Beachy},
  journal={Nature Genetics},
  year={2003},
  volume={33},
  pages={508-513}
}
Smith–Lemli–Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are human syndromes caused by defects in the final stages of cholesterol biosynthesis. Many of the developmental malformations in these syndromes occur in tissues and structures whose embryonic patterning depends on signaling by the Hedgehog (Hh) family of secreted proteins. Here we report that response to the Hh signal is compromised in mutant cells from mouse models of SLOS and lathosterolosis and in normal cells… CONTINUE READING

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Mutations in the human sterol δ 7reductase gene at 11 q 12 – 13 cause Smith – Lemli – Opitz syndrome

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