Article
Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.
Nature metabolism - 1 Oct 2024
Lockhart Sam M, Muso Milan, Zvetkova Ilona, Lam Brian Y H, Ferrari Alessandra, Schoenmakers Erik, Duckett Katie, Leslie Jack, Collins Amy, Romartínez-Alonso Beatriz, Tadross John A, Jia Raina, Gardner Eugene J, Kentistou Katherine, Zhao Yajie, Day Felix, Mörseburg Alexander, Rainbow Kara, Rimmington Debra, Mastantuoni Matteo, Harrison James, Nus Meritxell, Guma'a Khalid, Sherratt-Mayhew Sam, Jiang Xiao, Smith Katherine R, Paul Dirk S, Jenkins Benjamin, Koulman Albert, Pietzner Maik, Langenberg Claudia, Wareham Nicholas, Yeo Giles S, Chatterjee Krishna, Schwabe John, Oakley Fiona, Mann Derek A, Tontonoz Peter, Coll Anthony P, Ong Ken, Perry John R B, O'Rahilly Stephen
Abstract excerpt
Liver X receptor-α (LXRα) regulates cellular cholesterol abundance and potently activates hepatic lipogenesis. Here we show that at least 1 in 450 people in the UK Biobank carry functionally impaired mutations in LXRα, which is associated with biochemical evidence of hepatic dysfunction. On a western diet, male and female mice homozygous for a dominant negative mutation in LXRα have elevated liver cholesterol,...
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