Article

Human Induced Pluripotent Stem Cell based Hepatic-Modeling of Lipid metabolism associated TM6SF2 E167K variant

2023-12-18

Abstract excerpt

<h4>BACKGROUND AND AIMS</h4> TM6SF2 rs58542926 (E167K) is associated with an increase in the prevalence of Metabolic Disfunction-Associated Steatotic Liver Disease (MASLD). Despite all the investigation related to the role of this variant in lipid metabolism, conflicting results in mouse studies underscore the importance of creating a human model for understanding the TM6SF2 mechanism. Therefore, the aim of this...

Topics

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

Identifiers and source

Literature Corpus work: fdb3a30a-ce90-58a5-97df-ecb4d5ea008a
DOI: 10.1101/2023.12.18.572248

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Human Induced Pluripotent Stem Cell based Hepatic-Modeling of Lipid metabolism associated TM6SF2 E167K variantDOI 10.1101/2023.12.18.572248Read

Perturbation of transmembrane 6 superfamily member 2 expression alters lipid metabolism in a human liver cell lineSemantic proximity Read

Modeling Familial MASH by iPSC-HepatocytesSemantic proximity Read

The TM6SF2 E167K genetic variant induces lipid biosynthesis and reduces apolipoprotein B secretion in human hepatic 3D spheroidsSemantic proximity Read

Perturbation of TM6SF2 Expression Alters Lipid Metabolism in a Human Liver Cell Line.Semantic proximity Read

Generation of an induced pluripotent stem cell (iPSC) line (EXSURGi001-A) from a patient homozygous for the p.Ala165Thr mutation in the MTARC1 gene.Semantic proximity Read

Prime Editing Models the MTARC1 A165T Variant in Human Liver Organoids, Demonstrating Reduced Steatosis, Inflammation, and FibrosisSemantic proximity Read

TM6SF2/PNPLA3/MBOAT7 loss-of-function genetic variants impact on NAFLD development and progression both in patients and in <i>in vitro</i> modelsSemantic proximity Read

Predicting Metabolic Dysfunction Associated Steatotic Liver Disease Risk Using Patient-Derived Induced Pluripotent Stem CellsSemantic proximity Read

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.Semantic proximity Read

Diverse impacts of the rs58542926 E167K variant in TM6SF2 on viral and metabolic liver disease phenotypes.Semantic proximity Read

Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approachSemantic proximity Read

Identification and functional characterisation of a rare <i>MTTP</i> variant underlying hereditary non-alcoholic fatty liver diseaseSemantic proximity Read