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Cholesterol metabolism and Rett syndrome pathogenesis

Rett syndrome is caused by mutations in the gene encoding the transcriptional regulator MECP2. A new study demonstrates that cholesterol homeostasis is disrupted in Mecp2 mutant mice and suggests new therapeutic options for this disease.

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Figure 1: Potential neuronal effects of perturbed cholesterol homeostasis in Mecp2 mutant mice.


  1. Chahrour, M. & Zoghbi, H.Y. Neuron 56, 422–437 (2007).

    Article  CAS  Google Scholar 

  2. Chahrour, M. et al. Science 320, 1224–1229 (2008).

    Article  CAS  Google Scholar 

  3. Bienvenu, T. & Chelly, J. Nat. Rev. Genet. 7, 415–426 (2006).

    Article  CAS  Google Scholar 

  4. Amir, R.E. et al. Nat. Genet. 23, 185–188 (1999).

    Article  CAS  Google Scholar 

  5. Buchovecky, C.M. et al. Nat. Genet. 45, 1013–1020 (2013).

    Article  CAS  Google Scholar 

  6. Banerjee, A., Castro, J. & Sur, M. Front. Psychiatry 3, 34 (2012).

    Article  CAS  Google Scholar 

  7. Pfrieger, F.W. & Ungerer, N. Prog. Lipid Res. 50, 357–371 (2011).

    Article  CAS  Google Scholar 

  8. Guy, J., Gan, J., Selfridge, J., Cobb, S. & Bird, A. Science 315, 1143–1147 (2007).

    Article  CAS  Google Scholar 

  9. Thurnher, M., Gruenbacher, G. & Nussbaumer, O. Biochim. Biophys. Acta 1831, 1009–1015 (2013).

    Article  CAS  Google Scholar 

  10. Wang, Y. & Hekimi, S. Crit. Rev. Biochem. Mol. Biol. 48, 69–88 (2013).

    Article  CAS  Google Scholar 

  11. Resh, M.D. Trends Mol. Med. 18, 206–214 (2012).

    Article  CAS  Google Scholar 

  12. Osterweil, E.K. et al. Neuron 77, 243–250 (2013).

    Article  CAS  Google Scholar 

  13. Li, W. et al. Curr. Biol. 15, 1961–1967 (2005).

    Article  CAS  Google Scholar 

  14. Trapani, L., Segatto, M., Ascenzi, P. & Pallottini, V. IUBMB Life 63, 964–971 (2011).

    Article  CAS  Google Scholar 

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Correspondence to Susan L Ackerman.

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The authors declare no competing financial interests.

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Nagy, G., Ackerman, S. Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet 45, 965–967 (2013).

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