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ProteomicsThe fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics
Non-alcoholic fatty liver disease (NAFLD), recently renamed metabolic dysfunction-associated steatotic liver disease (MASLD), is a progressive metabolic disorder that begins with aberrant triglyceride accumulation in the liver and can lead to cirrhosis and cancer. A common variant in the gene PNPLA3...
ORGANISM(S): Homo sapiens (Human) 
2024-04-10 | PXD046335 | Pride
Endosome Masld Golgi Liver disease Pnpla3 Lipid droplet Nafld 
GenomicsThe fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics
The fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics
PRJNA1086450 | ENA
TranscriptomicsThe fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics
Non-alcoholic fatty liver disease (NAFLD), recently renamed metabolic dysfunction-associated steatotic liver disease (MASLD), is a progressive metabolic disorder that begins with aberrant triglyceride accumulation in the liver and can lead to cirrhosis and cancer. A common variant in the gene PNPLA3...
ORGANISM(S): Homo sapiens 
2024-04-09 | GSE261297 | GEO
GenomicsPNPLA3-I148M genetic variant rewires lipid metabolism to drive programmed cell death in human hepatocytes
PNPLA3-I148M genetic variant rewires lipid metabolism to drive programmed cell death in human hepatocytes
PRJNA1363171 | ENA
TranscriptomicsRNA-Seq of isolated primary human hepatocytes carrying the PNPLA3-I148M mutation compared to the WT
Although, there has been strong correlation between PNPLA3-I148M variants and metabolic dysfunction-associated steatotic liver disease (MASLD), the mechanism by which this variant drive the disease is not well understood. To this end, we perform this experiment to understand the transcriptomic chang...
ORGANISM(S): Homo sapiens 
2025-10-14 | E-MTAB-15689 | biostudies-arrayexpress
TranscriptomicsA functional interaction between hepatic Estrogen Receptor-a and PNPLA3 p.I148M variant drives fatty liver diseases susceptibility in women
Fatty liver disease (FLD) caused by metabolic dysfunction is the leading cause of liver disease, and the prevalence is rising, especially in women. Although during reproductive age women are protected against FLD, for still unknown and understudied reasons some develop rapidly progressive disease at...
ORGANISM(S): Homo sapiens 
2023-09-20 | GSE239422 | GEO
TranscriptomicsPNPLA3-I148M genetic variant rewires lipid metabolism to drive programmed cell death in human hepatocytes
Genetic variants in lipid metabolism influence the risk of developing metabolic dysfunction-associated steatotic liver disease (MASLD), cirrhosis, and end-stage liver disease (ESLD). The mechanisms by which these variants drive disease are poorly understood. Because of the PNPLA3-I148M variant's str...
ORGANISM(S): Homo sapiens 
2025-11-20 | GSE309786 | GEO
GenomicsPrime Editing Enables Isogenic Modeling of PNPLA3-I148M-Associated Lipotoxicity in Hepatocytes
Prime Editing Enables Isogenic Modeling of PNPLA3-I148M-Associated Lipotoxicity in Hepatocytes
PRJNA1380303 | ENA
GenomicsInduced Pluripotent Stem Cell Derived Liver Model for the Study of PNPLA3 Associated Non-Alcoholic Fatty Liver Disease
Induced Pluripotent Stem Cell Derived Liver Model for the Study of PNPLA3 Associated Non-Alcoholic Fatty Liver Disease
PRJNA664637 | ENA
GenomicsA functional interaction between hepatic Estrogen Receptor-a and PNPLA3 p.I148M variant drives fatty liver diseases susceptibility in women
A functional interaction between hepatic Estrogen Receptor-a and PNPLA3 p.I148M variant drives fatty liver diseases susceptibility in women
PRJNA999255 | ENA
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