Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients

ÖNAL, GİZEM; KUTLU, ÖZLEM; Ozer, Ebru; GÖZÜAÇIK, DEVRİM; KARADUMAN, AYŞEN; Emre, SERAP

doi:10.1016/j.jdermsci.2018.11.013

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients

ÖNAL G., KUTLU Ö., Ozer E., GÖZÜAÇIK D., KARADUMAN A., Emre S.

JOURNAL OF DERMATOLOGICAL SCIENCE, vol.93, no.1, pp.50-57, 2019 (Peer-Reviewed Journal)

Publication Type: Article / Article
Volume: 93 Issue: 1
Publication Date: 2019
Doi Number: 10.1016/j.jdermsci.2018.11.013
Journal Name: JOURNAL OF DERMATOLOGICAL SCIENCE
Journal Indexes: Science Citation Index Expanded, Scopus
Page Numbers: pp.50-57
Keywords: Autosomal Recessive Congenital Ichthyosis (ARCI), Patatin-like phospholipase domain-containing protein-1 (PNPLA1), Lipid droplets, Autophagy, Lipophagy, DOMAIN-CONTAINING PROTEIN-1, OMEGA-O-ACYLCERAMIDE, IDENTIFICATION, GENE, AUTOPHAGY, ALOX12B, MICE, FORM

Abstract

Background: Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of epidermal keratinization disorders. One of the disease-associated proteins, patatin-like phospholipase domain-containing protein-1 (PNPLA1), plays a key role in the epidermal omega-O-acylceramide synthesis and localizes on the surface of lipid droplets (LDs).