Article
The Genetic Variant I148M in PNPLA3 Is Associated With Increased Hepatic Retinyl-Palmitate Storage in Humans.
The Journal of clinical endocrinology and metabolism - 1 Dec 2015
Kovarova Marketa, Königsrainer Ingmar, Königsrainer Alfred, Machicao Fausto, Häring Hans-Ulrich, Schleicher Erwin, Peter Andreas
Abstract excerpt
CONTEXT: Previous studies revealed that the common sequence variant I148M in patatin-like phospholipase domain-containing protein 3 (PNPLA3) is associated with liver fat content and liver diseases, but not with insulin resistance. Recent data suggest that the PNPLA3 I148M variant has reduced retinyl-palmitate lipase activity in hepatic stellate cells. OBJECTIVE: We hypothesized that the PNPLA3 I148M variant is...
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