Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome

J Invest Dermatol. 2010 Oct;130(10):2497-9. doi: 10.1038/jid.2010.145. Epub 2010 Jun 3.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics*
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / metabolism
  • Ceramides / deficiency*
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / metabolism*
  • Lipid Metabolism / physiology*
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / metabolism*
  • Syndrome*

Substances

  • Ceramides
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human