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Article

A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.

Journal of lipid research - 1 Jan 2025

Valmiki Swati, Bredefeld Cindy, Hussain M Mahmood

Abstract excerpt

Microsomal triglyceride transfer protein (MTP) plays crucial roles in the assembly and secretion of apolipoprotein B-containing lipoproteins and loss of function MTP variants are associated with abetalipoproteinemia, a disease characterized by the absence of these lipoproteins. MTP is a heterodimeric protein of two subunits, MTP and protein disulfide isomerase (PDI). In this study, we report a proband with...

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Source

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Identifiers

PMID: 39672332
DOI: 10.1016/j.jlr.2024.100725
PMCID: PMC11745965

Genes

MTTP

Provenance

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A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase.PMID 39672332Read ↗

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