A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.

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 a...

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Bibliographic Details
Main Authors: Ian Smyth, Douglas F Hacking, Adrienne A Hilton, Nigora Mukhamedova, Peter J Meikle, Sarah Ellis, Keith Satterley, Janelle E Collinge, Carolyn A de Graaf, Melanie Bahlo, Dmitri Sviridov, Benjamin T Kile, Douglas J Hilton
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2008-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2529452?pdf=render