Work

A novel human hepatocyte cell line to study PNPLA3-associated steatotic liver disease

Year: 2025
Type: article
Abstract: We have developed a novel in vitro model for studying the PNPLA3 p.I148M variant in steatotic liver disease using a normal, healthy-derived hepatocyte cell line, which does not endogenously express the variant. We show that carrying the homozygous PNPLA3 p.I148M variant results in reduced PNPLA3 gene and protein expression, more lipid accumulation, increased lipid uptake, and reduced mitochondrial lipid oxidation-associated gene expressions and altered expression of genes associated with lipid synthesis and transport.
Language: English
Subfield: Epidemiology
Field: Medicine
Open Access status: hybrid
OpenAlex ID: W4409697069
FWCI: 1.214
Cites: 64
Cited by: 2
Related to: 10