[HTML][HTML] Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease

Y Huang, JC Cohen, HH Hobbs - Journal of Biological Chemistry, 2011 - ASBMB
A genetic variant of PNPLA3 (patatin-like phospholipase domain-containing 3; PNPLA3-
I148M), a serine protease of unknown function, is associated with accumulation of
triacylglycerol (TAG) in the liver. To determine the biological substrates of PNPLA3 and the
effect of the I148M substitution on enzymatic activity and substrate specificity, we purified
and characterized recombinant human PNPLA3 and PNPLA3-I148M. Maximal hydrolytic
activity of PNPLA3 was observed against the three major glycerolipids, TAG, diacylglycerol …