Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

• Published in: Cells (Basel, Switzerland) Vol. 8; no. 2; p. 187
• Main Authors: Missaglia, Sara, Coleman, Rosalind A, Mordente, Alvaro, Tavian, Daniela
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 21.02.2019; MDPI
• Subjects: 1-Acylglycerol-3-Phosphate O-Acyltransferase - chemistry; 1-Acylglycerol-3-Phosphate O-Acyltransferase - metabolism; ABHD5; Adipocytes; Animals; Biosynthesis; Cardiac muscle; cardiomyopathy; Cardiovascular disease; Cell culture; Diabetes; Energy balance; Energy metabolism; Esters; Fibroblasts; Gene expression; Homeostasis; Humans; Hydrolase; Ichthyosis; induced pluripotent stem cells; Insulin resistance; Jordans’ anomaly; lipid droplet; Lipid Droplets - metabolism; Lipid Droplets - ultrastructure; Lipid metabolism; Lipid Metabolism, Inborn Errors - metabolism; Lipids; liver steatosis; Mammals; Metabolism; Models, Biological; Muscles - pathology; Muscles - ultrastructure; Mutation; Myopathy; NLSD; Organelles; PNPLA2; Proteins; Review; Storage diseases; Structure-function relationships; Vitamin A; lipid droplet; fibroblasts; myopathy; lipid metabolism; liver steatosis; Jordans’ anomaly; induced pluripotent stem cells; ABHD5; NLSD; cardiomyopathy; ichthyosis; PNPLA2

Neutral lipid storage disease with myopathy (NLSDM) and with ichthyosis (NLSDI) are rare autosomal recessive disorders caused by mutations in the and in the genes, respectively. These genes encode the adipose triglyceride lipase (ATGL) and α-β hydrolase domain 5 (ABHD5) proteins, which play key role...