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

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

JOURNAL OF DERMATOLOGICAL SCIENCE, vol.93, no.1, pp.50-57, 2019 (SCI-Expanded)

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 (SCI-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
Hacettepe University Affiliated: Yes

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).