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 PNPLA2 and in the ABHD5/CGI58 genes, respectively. These genes encode the adipose triglyceride lipase (ATGL) and α-β hydrolase domain 5 (ABHD5) proteins,...

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Bibliografische gegevens
Gepubliceerd in:Cells
Hoofdauteurs: Missaglia, Sara, Coleman, Rosalind A., Mordente, Alvaro, Tavian, Daniela
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2019
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Review
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6406896/
https://ncbi.nlm.nih.gov/pubmed/30795549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells8020187
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