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, cilt.93, sa.1, ss.50-57, 2019 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 93 Sayı: 1
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.jdermsci.2018.11.013
  • Dergi Adı: JOURNAL OF DERMATOLOGICAL SCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.50-57
  • Anahtar Kelimeler: 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
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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).