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Article

Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress.

Cell reports - 16 May 2017

Liu Ying, Conlon Donna M, Bi Xin, Slovik Katherine J, Shi Jianting, Edelstein Hailey I, Millar John S, Javaheri Ali, Cuchel Marina, Pashos Evanthia E, Iqbal Jahangir, Hussain M Mahmood, Hegele Robert A, Yang Wenli, Duncan Stephen A, Rader Daniel J, Morrisey Edward E

Abstract excerpt

Abetalipoproteinemia (ABL) is an inherited disorder of lipoprotein metabolism resulting from mutations in microsomal triglyceride transfer protein (MTTP). In addition to expression in the liver and intestine, MTTP is expressed in cardiomyocytes, and cardiomyopathy has been reported in several ABL cases. Using induced pluripotent stem cells (iPSCs) generated from an ABL patient homozygous for a missense mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28514664
DOI: 10.1016/j.celrep.2017.04.064
PMCID: PMC5555078

Genes

MTTP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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