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.

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 M, Huchenq A, Sandhoff R, Severino-Freire M, Zaafouri S, Opálka L, Levade T, Soldan V, Bertrand-Michel J, Lhuillier E, Serre G, Maruani A, Mazereeuw-Hautier J, Jonca N.