Ontology highlight
ABSTRACT:
SUBMITTER: He S
PROVIDER: S-EPMC2825465 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
He Shaoqing S McPhaul Christopher C Li John Zhong JZ Garuti Rita R Kinch Lisa L Grishin Nick V NV Cohen Jonathan C JC Hobbs Helen H HH
The Journal of biological chemistry 20091223 9
Obesity and insulin resistance are associated with deposition of triglycerides in tissues other than adipose tissue. Previously, we showed that a missense mutation (I148M) in PNPLA3 (patatin-like phospholipase domain-containing 3 protein) is associated with increased hepatic triglyceride content in humans. Here we examined the effect of the I148M substitution on the enzymatic activity and cellular location of PNPLA3. Structural modeling predicted that the substitution of methionine for isoleucin ...[more]