Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Abstract excerpt

The lack of adipose triglyceride lipase (ATGL), a patatin-like phospholipase domain-containing enzyme that hydrolyzes fatty acids from triacylglycerol (TAG) stored in multiple tissues, causes the autosomal recessive disorder neutral lipid storage disease with myopathy (NLSD-M). In two families of Lebanese and Italian origin presenting with NLSD-M, we identified two new missense mutations in highly conserved...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adipose Tissue and Metabolism
• Share to Lipid metabolism and biosynthesis
• Share to Pancreatic function and diabetes