[HTML][HTML] Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) …
S Gandotra, K Lim, A Girousse, V Saudek… - Journal of Biological …, 2011 - ASBMB
Perilipin (PLIN1) is a constitutive adipocyte lipid droplet coat protein. N-terminal amphipathic
helices and central hydrophobic stretches are thought to anchor it on the lipid droplet, where
it appears to function as a scaffold protein regulating lipase activity. We recently identified
two different C-terminal PLIN1 frame shift mutations (Leu-404fs and Val-398fs) in patients
with a novel subtype of partial lipodystrophy, hypertriglyceridemia, severe insulin resistance,
and type 2 diabetes (Gandotra, S., Le Dour, C., Bottomley, W., Cervera, P., Giral, P., Reznik …
helices and central hydrophobic stretches are thought to anchor it on the lipid droplet, where
it appears to function as a scaffold protein regulating lipase activity. We recently identified
two different C-terminal PLIN1 frame shift mutations (Leu-404fs and Val-398fs) in patients
with a novel subtype of partial lipodystrophy, hypertriglyceridemia, severe insulin resistance,
and type 2 diabetes (Gandotra, S., Le Dour, C., Bottomley, W., Cervera, P., Giral, P., Reznik …