Clinical and Molecular Characterization of a Novel PLIN1 Frameshift Mutation Identified in Patients With Familial Partial Lipodystrophy

Abstract excerpt

Perilipin 1 is a lipid droplet coat protein predominantly expressed in adipocytes, where it inhibits basal and facilitates stimulated lipolysis. Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. We now report the identification and characterization of a novel heterozygous frameshift mutation affecting the...

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 Nuclear Structure and Function