Article
The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.
Proceedings of the National Academy of Sciences of the United States of America - 26 Dec 2007
Szymanski Kimberly M, Binns Derk, Bartz René, Grishin Nick V, Li Wei-Ping, Agarwal Anil K, Garg Abhimanyu, Anderson Richard G W, Goodman Joel M
Abstract excerpt
Lipodystrophy is a disorder characterized by a loss of adipose tissue often accompanied by severe hypertriglyceridemia, insulin resistance, diabetes, and fatty liver. It can be inherited or acquired. The most severe inherited form is Berardinelli-Seip Congenital Lipodystrophy Type 2, associated with mutations in the BSCL2 gene. BSCL2 encodes seipin, the function of which has been entirely unknown. We now report...
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