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Article

The molecular basis of abetalipoproteinemia.

Current opinion in lipidology - 1 Apr 1994

Gregg R E, Wetterau J R

Abstract excerpt

Abetalipoproteinemia is a recessive genetic disease in humans characterized by the virtual absence of apolipoprotein (apo)B and apoB-containing lipoproteins in plasma. Microsomal triglyceride transfer protein (MTP), a resident lipid transfer protein within the endoplasmic reticulum of hepatocytes and enterocytes, has been shown to be absent in enterocytes from subjects with this disease. MTP is a heterodimer of a...

Topics

Abetalipoproteinemia
Apolipoproteins B
Carrier Proteins
Cholesterol Ester Transfer Proteins
Endoplasmic Reticulum
Glycoproteins
Humans
Intestines
Liver
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8044420
DOI: 10.1097/00041433-199404000-00003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8044420-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The molecular basis of abetalipoproteinemia.PMID 8044420Read ↗

A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.Semantic proximity Read ↗

Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.Semantic proximity Read ↗

Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation.Semantic proximity Read ↗

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.Semantic proximity Read ↗

A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.Semantic proximity Read ↗

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.Semantic proximity Read ↗

Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.Semantic proximity Read ↗

Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes.Semantic proximity Read ↗

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Semantic proximity Read ↗

A New Case of Abetalipoproteinemia Caused by Novel Compound Heterozygote Mutations in the MTTP Gene without Fat or Vitamin Malabsorption.Semantic proximity Read ↗

Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Semantic proximity Read ↗

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