Article

Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health

2024-04-29

Abstract excerpt

The nuclear receptor Liver X Receptor-α (LXRα) activates lipogenic gene expression in hepatocytes. Its inhibition has therefore been proposed as a strategy to treat metabolic-dysfunction-associated steatotic liver disease (MASLD). In order to understand the impact of reducing LXRα activity on human health we first examined the association between the carriage of rare loss of function mutations in NR1H3 (encoding...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4243fb3c-12ed-5bf4-a7f4-e6d23042bea0
DOI: 10.1101/2024.04.28.591512

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver healthDOI 10.1101/2024.04.28.591512Read

Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health.Semantic proximity Read

A Novel Mutation in LXRα Uncovers a Role for Cholesterol Sensing in Limiting Metabolic Dysfunction-Associated Steatohepatitis (MASH)Semantic proximity Read

A mutation in LXRα uncovers a role for cholesterol sensing in limiting metabolic dysfunction-associated steatohepatitisSemantic proximity Read

Nuclear receptor variants in liver disease.Semantic proximity Read

Downregulation of the MARC1 p.A165 risk allele reduces hepatocyte lipid content by increasing beta-oxidation.Semantic proximity Read

Rare ATG7 genetic variants predispose patients to severe fatty liver diseaseSemantic proximity Read

Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe).Semantic proximity Read

Loss of hepatic Mboat7 leads to liver fibrosis.Semantic proximity Read

Hepatocyte mARC1 promotes fatty liver diseaseSemantic proximity Read

Mechanistic basis for protection against fatty liver disease by <i>CIDEB</i> loss-of-function mutationsSemantic proximity Read

Genetic impairment of ketone body signalling is a prevalent contributor to human metabolic dysfunctionSemantic proximity Read

Meta-Analysis: Redefining Liver Disease Risk in Heterozygous Alpha-1 Antitrypsin Deficiency.Semantic proximity Read