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A study into rare GPR146 gene variants in humans and mice

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Zhang, Boyan | Rimbert, Antoine | Lainé, Antoine | Huijkman, Nicolette | Kloosterhuis, Niels | Smit, Marieke | van de Sluis, Bart | Kuivenhoven, Jan Albert | Tharehalli, Umesh

Edité par CCSD ; Elsevier -

International audience. G-protein coupled receptor 146 (GPR146)-deficient mice exhibit a moderate 21 % reduction in plasma cholesterol. This is associated with decreased phosphorylation of ERK1/2 and reduced SREBP2 activity in the liver, which leads to lower VLDL secretion. Insight into the role of GPR146 in humans is however limited. We therefore set out to study rare genetic variants in GPR146 to improve our understanding of this new player in lipid metabolism.

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