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J Lipid Res 2022 May 11:100226. Epub 2022 May 11.

Charles University, Faculty of Pharmacy in Hradec Králové, Hradec Králové, Czech Republic. Electronic address:

Epidermal omega-O-acylceramides (ω-O-acylCers) are essential components of a competent skin barrier. These unusual sphingolipids with ultralong N-acyl chains contain linoleic acid esterified to the terminal hydroxyl of the N-acyl, the formation of which requires the transacylase activity of patatin-like phospholipase domain containing 1 (PNPLA1). In ichthyosis with dysfunctional PNPLA1, ω-O-acylCer levels are significantly decreased, and ω-hydroxylated Cers (ω-OHCers) accumulate. Read More

FASEB J 2022 May;36 Suppl 1

LRCMB, National Eye Institute, Bethsda, MD.

Photoreceptor cells produce a receptor protein for pigment epithelium-derived factor (PEDF-R), which is encoded by the PNPLA2 gene of the patatin-like phospholipase domain-containing 2 family. PEDF-R is a membrane-linked lipase detected in the inner segments of photoreceptors. We aim to reveal the physiological role of PEDF-R in photoreceptors by characterizing CRISPR Pnpla2 knock-out mouse lines. Read More

J Clin Exp Hepatol 2022 Mar-Apr;12(2):293-305. Epub 2021 Sep 8.

Cardiovascular and Metabolic Diseases Research, Institut de Recherches Servier, Suresnes, France.

Background: Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease, which is associated with features of metabolic syndrome. NAFLD may progress in a subset of patients into nonalcoholic steatohepatitis (NASH) with liver injury resulting ultimately in cirrhosis and potentially hepatocellular carcinoma. Today, there is no approved treatment for NASH due to, at least in part, the lack of preclinical models recapitulating features of human disease. Read More

Metabolites 2022 Mar 24;12(4). Epub 2022 Mar 24.

Oregon Institute of Occupational Health Sciences, Oregon Health and Science University, Portland, OR 97239, USA.

Patatin-like phospholipase domain-containing protein 6 (PNPLA6), originally called Neuropathy Target Esterase (NTE), belongs to a family of hydrolases with at least eight members in mammals. PNPLA6/NTE was first identified as a key factor in Organophosphate-induced delayed neuropathy, a degenerative syndrome that occurs after exposure to organophosphates found in pesticides and nerve agents. More recently, mutations in PNPLA6/NTE have been linked with a number of inherited diseases with diverse clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. Read More

Hepatol Commun 2022 Apr 11. Epub 2022 Apr 11.

Institute of Metabolic Science, University of Cambridge, Cambridge, UK.

Genome-wide association studies in adults have identified variants in hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) and mitochondrial amidoxime reducing component 1 (MTARC1) as protective against nonalcoholic fatty liver disease (NAFLD). We aimed to test their association with pediatric NAFLD liver histology and investigate their function using metabolomics. A total of 1450 children (729 with NAFLD, 399 with liver histology) were genotyped for rs72613567T>TA in HSD17B13, rs2642438G>A in MTARC1, and rs738409C>G in patatin-like phospholipase domain-containing protein 3 (PNPLA3). Read More