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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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Detalles Bibliográficos
Autores principales: Smyth, Ian, Hacking, Douglas F., Hilton, Adrienne A., Mukhamedova, Nigora, Meikle, Peter J., Ellis, Sarah, Slattery, Keith, Collinge, Janelle E., de Graaf, Carolyn A., Bahlo, Melanie, Sviridov, Dmitri, Kile, Benjamin T., Hilton, Douglas J.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2529452/
https://www.ncbi.nlm.nih.gov/pubmed/18802465
http://dx.doi.org/10.1371/journal.pgen.1000192