Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis
Eriks Smagris, Soumik BasuRay, John Li, Yongcheng Huang, Ka‐man V. Lai, Jesper Gromada, Jonathan C. Cohen, Helen H. Hobbs – 10 June 2014 – A sequence polymorphism (rs738409, I148M) in patatin‐like phospholipid domain containing protein 3 (PNPLA3) is strongly associated with nonalcoholic fatty liver disease (NAFLD), but the mechanistic basis for this association remains enigmatic. Neither ablation nor overexpression of wild‐type PNPLA3 affects liver fat content in mice, whereas hepatic overexpression of the human 148M transgene causes steatosis.