Article
Disruption of the ERLIN-TM6SF2-APOB complex destabilizes APOB and contributes to non-alcoholic fatty liver disease.
PLoS genetics - 1 Aug 2020
Li Bo-Tao, Sun Ming, Li Yun-Feng, Wang Ju-Qiong, Zhou Zi-Mu, Song Bao-Liang, Luo Jie
Abstract excerpt
Non-alcoholic fatty liver disease (NAFLD) is a metabolic disorder characterized by excess lipid accumulation in the liver without significant consumption of alcohol. The transmembrane 6 superfamily member 2 (TM6SF2) E167K missense variant strongly associates with NAFLD in humans. The E167K mutation destabilizes TM6SF2, resulting in hepatic lipid accumulation and low serum lipid levels. However, the molecular...
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