Article
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Molecular genetics and metabolism - 1 May 2017
Tavian D, Missaglia S, Castagnetta M, Degiorgio D, Pennisi E M, Coleman R A, Dell'Era P, Mora C, Angelini C, Coviello D A
Abstract excerpt
Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its...
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