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The fatty liver disease–causing protein PNPLA3-I148M alters lipid droplet–Golgi dynamics

24 Apr 2024

Abstract excerpt

, encoding the protein PNPLA3-I148M, is the strongest known genetic risk factor for MASLD. Despite its discovery 20 y ago, the function of PNPLA3, and now the role of PNPLA3-I148M, remain unclear. In this study, we sought to dissect the biogenesis of PNPLA3 and PNPLA3-I148M and characterize changes induced by endogenous expression of the disease-causing variant. Contrary to bioinformatic predictions and prior...

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Share to Endoplasmic Reticulum Stress and Disease
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Share to Liver Disease Diagnosis and Treatment

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PMID: 38657050
DOI: 10.1073/pnas.2318619121

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