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

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

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 &am...

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Bibliographic Details
Main Authors: Sara Missaglia, Rosalind A. Coleman, Alvaro Mordente, Daniela Tavian
Format: Article
Language:English
Published: MDPI AG 2019-02-01
Series:Cells
Subjects:
NLSD
<i>PNPLA2</i>
<i>ABHD5</i>
lipid metabolism
lipid droplet
myopathy
ichthyosis
cardiomyopathy
liver steatosis
Jordans’ anomaly
fibroblasts
induced pluripotent stem cells
Online Access:https://www.mdpi.com/2073-4409/8/2/187

Internet

https://www.mdpi.com/2073-4409/8/2/187

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