Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
Author:
Affiliation:
1. Dermatology Unit; Bambino Gesù Children's Hospital; IRCCS; Rome Italy
2. Molecular Genetics Laboratory; Bambino Gesù Children's Hospital; IRCCS; Rome Italy
3. Department of Pathology; Bambino Gesù Children's Hospital; IRCCS; Rome Italy
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14618/fullpdf
Reference11 articles.
1. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012
2. PNPLA1 deficiency in mice and humans leads to a defect in the synthesis of omega-O-acylceramides;Grond;J Invest Dermatol,2017
3. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis;Hirabayashi;Nat Commun,2017
4. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide;Ohno;Nat Commun,2017
5. PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier;Pichery;Hum Mol Genet,2017
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