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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados