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Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of autosomal recessive congenital ichthyosis patients

Önal, Gizem; Kutlu, Özlem; Özer, Ebru; Gözüaçık, Devrim; Karaduman, Ayşen; Emre, Serap Dökmeci (Elsevier Ireland LTD, 2019)

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 ...