Article
Perturbation of TM6SF2 Expression Alters Lipid Metabolism in a Human Liver Cell Line.
International journal of molecular sciences - 9 Sept 2021
Pant Asmita, Chen Yue, Kuppa Annapurna, Du Xiaomeng, Halligan Brian D, Speliotes Elizabeth K
Abstract excerpt
Non-alcoholic fatty liver disease (NAFLD) is caused by excess lipid accumulation in hepatocytes. Genome-wide association studies have identified a strong association of NAFLD with non-synonymous E167K amino acid mutation in the transmembrane 6 superfamily member 2 (TM6SF2) protein. The E167K mutation reduces TM6SF2 stability, and its carriers display increased hepatic lipids and lower serum triglycerides....
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