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) identifier identifier identifier

  • 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).