Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
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ABSTRACT:
SUBMITTER: Missaglia S
PROVIDER: S-EPMC6406896 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Publications
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Missaglia Sara S Coleman Rosalind A RA Mordente Alvaro A Tavian Daniela D
Cells 20190221 2
Neutral lipid storage disease with myopathy (NLSDM) and with ichthyosis (NLSDI) are rare autosomal recessive disorders caused by mutations in the <i>PNPLA2</i> and in the <i>ABHD5/CGI58</i> genes, respectively. These genes encode the adipose triglyceride lipase (ATGL) and α-β hydrolase domain 5 (ABHD5) proteins, which play key roles in the function of lipid droplets (LDs). LDs, the main cellular storage sites of triacylglycerols and sterol esters, are highly dynamic organelles. Indeed, LDs are c ...[more]
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