A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis

@article{Smyth2008AMM,
  title={A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis},
  author={Ian Smyth and Douglas F. Hacking and Adrienne A. Hilton and Nigora Mukhamedova and Peter J. Meikle and Sarah Ellis and Keith Slattery and Janelle E. Collinge and Carolyn A. de Graaf and Melanie Bahlo and Dmitri Sviridov and Benjamin T Kile and Douglas J. Hilton},
  journal={PLoS Genetics},
  year={2008},
  volume={4},
  pages={472 - 473}
}
Harlequin Ichthyosis (HI) is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenesis screen, we have identified and characterised an animal model of HI and showed that it displays many… CONTINUE READING
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