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.
This is a preview of subscription content, access via your institution
Relevant articles
Open Access articles citing this article.
-
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits
Translational Psychiatry Open Access 09 September 2021
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Chahrour, M. & Zoghbi, H.Y. Neuron 56, 422–437 (2007).
Chahrour, M. et al. Science 320, 1224–1229 (2008).
Bienvenu, T. & Chelly, J. Nat. Rev. Genet. 7, 415–426 (2006).
Amir, R.E. et al. Nat. Genet. 23, 185–188 (1999).
Buchovecky, C.M. et al. Nat. Genet. 45, 1013–1020 (2013).
Banerjee, A., Castro, J. & Sur, M. Front. Psychiatry 3, 34 (2012).
Pfrieger, F.W. & Ungerer, N. Prog. Lipid Res. 50, 357–371 (2011).
Guy, J., Gan, J., Selfridge, J., Cobb, S. & Bird, A. Science 315, 1143–1147 (2007).
Thurnher, M., Gruenbacher, G. & Nussbaumer, O. Biochim. Biophys. Acta 1831, 1009–1015 (2013).
Wang, Y. & Hekimi, S. Crit. Rev. Biochem. Mol. Biol. 48, 69–88 (2013).
Resh, M.D. Trends Mol. Med. 18, 206–214 (2012).
Osterweil, E.K. et al. Neuron 77, 243–250 (2013).
Li, W. et al. Curr. Biol. 15, 1961–1967 (2005).
Trapani, L., Segatto, M., Ascenzi, P. & Pallottini, V. IUBMB Life 63, 964–971 (2011).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Source data
Rights and permissions
About this article
Cite this article
Nagy, G., Ackerman, S. Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet 45, 965–967 (2013). https://doi.org/10.1038/ng.2738
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng.2738
This article is cited by
-
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits
Translational Psychiatry (2021)
-
Neuropädiatrische Differenzialdiagnostik der Mikrozephalie im Kindesalter
Medizinische Genetik (2016)