PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNPLA1 is crucial for epidermal sphingol...

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Vydáno v:J Invest Dermatol
Hlavní autoři: Grond, Susanne, Eichmann, Thomas O., Dubrac, Sandrine, Kolb, Dagmar, Schmuth, Matthias, Fischer, Judith, Crumrine, Debra, Elias, Peter M., Haemmerle, Guenter, Zechner, Rudolf, Lass, Achim, Radner, Franz P.W.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5298181/
https://ncbi.nlm.nih.gov/pubmed/27751867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jid.2016.08.036
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