A new study with patient stem cell–based modeling of Smith-Lemli-Opitz syndrome (SLOS) shows that the accumulation of a specific cholesterol precursor dysregulates the Wnt/b-catenin pathway, which in turn leads to precocious neural differentiation.
This is a preview of subscription content, access via your institution
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
Takahashi, K. et al. Cell 131, 861–872 (2007).
Bellin, M., Marchetto, M.C., Gage, F.H. & Mummery, C.L. Nat. Rev. Mol. Cell Biol. 13, 713–726 (2012).
Yoon, K.J. et al. Cell Stem Cell 15, 79–91 (2014).
Francis, K.R. et al. Nat. Med. 22, 388–396 (2016).
Porter, F.D. Eur. J. Hum. Genet. 16, 535–541 (2008).
Vanier, M.T. Orphanet J. Rare Dis. 5, 16 (2010).
Krakowiak, P.A. et al. Hum. Mol. Genet. 12, 1631–1641 (2003).
Ciani, L. & Salinas, P.C. Nat. Rev. Neurosci. 6, 351–362 (2005).
Jang, M.H. et al. Cell Stem Cell 12, 215–223 (2013).
Wen, Z. et al. Nature 515, 414–418 (2014).
Lancaster, M.A. & Knoblich, J.A. Science 345, 1247125 (2014).
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Wen, Z., Song, H. & Ming, Gl. Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. Nat Med 22, 343–344 (2016). https://doi.org/10.1038/nm.4081
Published:
Issue Date:
DOI: https://doi.org/10.1038/nm.4081