A Novel Mutation in LXRalpha Uncovers a Role for Cholesterol Sensing in Limiting Metabolic Dysfunction-Associated Steatohepatitis (MASH).
Alexis T. Clark, Lillian Russo-Savage, Luke A. Ashton, Niki Haghshenas, Nicolas A. Amselle, Ira G. Schulman
This study shows that a mutation in LXRalpha impairs cholesterol sensing, leading to MASH-like liver disease despite low triglycerides, and that restoring LXR signaling can reverse the condition.
Nature Communications · Jan 28, 2025Peer-reviewedPhysiology