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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Detalles Bibliográficos
Autores principales: Missaglia, Sara, Coleman, Rosalind A., Mordente, Alvaro, Tavian, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406896/
https://www.ncbi.nlm.nih.gov/pubmed/30795549
http://dx.doi.org/10.3390/cells8020187

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