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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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| Publicado no: | Cells |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2019
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| Assuntos: | |
| Acesso em linha: | 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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