Published January 1, 2019
| Version v1
Journal article
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Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients
Creators
- 1. Sabanci Univ, Mol Biol Genet & Bioengn Program, TR-34956 Istanbul, Turkey
- 2. Hacettepe Univ, Dept Dermatol & Venereol, TR-06100 Ankara, Turkey
- 3. Hacettepe Univ, Dept Med Biol, TR-06100 Ankara, Turkey
Description
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).
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