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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Invest Dermatol
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker