ArticleAmerican journal of human genetics1995
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 147 citations in OpenAlex.
- Balancing cholesterol metabolism in the liver and gut: perspectives in health and disease.Nature reviews. Gastroenterology & hepatology · 2026Review
- Thirty-Three Years Follow-Up of a Greek Family with Abetalipoproteinemia: Absence of Liver Damage on Long-Term Medium Chain Triglycerides Supplementation.Journal of personalized medicine · 2025Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Current Diagnosis and Management of Abetalipoproteinemia.Journal of atherosclerosis and thrombosis · 2021Review
- A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.Journal of clinical laboratory analysis · 2021Article
- A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.PLoS genetics · 2020Article
- The crystal structure of human microsomal triglyceride transfer protein.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Genetics of non-alcoholic fatty liver disease: From susceptibility and nutrient interactions to management.World journal of hepatology · 2016Review
- Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.Circulation. Cardiovascular genetics · 2015Article
- Central effects of humanin on hepatic triglyceride secretion.American journal of physiology. Endocrinology and metabolism · 2015Article
- Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.European journal of human genetics : EJHG · 2015Article
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- Supplementary site interactions are critical for the regulation of microsomal triglyceride transfer protein by microRNA-30c.Nutrition & metabolism · 2013Article
- Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.Journal of lipid research · 2013Article
- Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.Diagnostic pathology · 2013Article
- Clinical utility gene card for: Abetalipoproteinaemia.European journal of human genetics : EJHG · 2012Article
- Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.Journal of lipid research · 2012Article
- Protein disulfide isomerases contribute differentially to the endoplasmic reticulum-associated degradation of apolipoprotein B and other substrates.Molecular biology of the cell · 2012Article
- Congenital diarrheal disorders: an updated diagnostic approach.International journal of molecular sciences · 2012Review
- Deep brain stimulation for the treatment of tremor and ataxia associated with abetalipoproteinemia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2012Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Elevated plasma levels of apolipoprotein B (apoB)-containing lipoproteins constitute a major risk factor for the development of coronary heart disease. In the rare recessively inherited disorder abetalipoproteinemia (ABL) the production of apoB-containing lipoproteins is abolished, despite no abnormality of the apoB gene. In the current study we have characterized the gene encoding a microsomal triglyceride-transfer protein (MTP), localized to chromosome 4q22-24, and have identified a mutation of the MTP gene in both alleles of all individuals in a cohort of eight patients with classical ABL. Each mutant allele is predicted to encode a truncated form of MTP with a variable number of aberrant amino acids at its C-terminal end. Expression of genetically engineered forms of MTP in Cos-1 cells indicates that the C-terminal portion of MTP is necessary for triglyceride-transfer activity. Deletion of 20 amino acids from the carboxyl terminus of the 894-amino-acid protein and a missense mutation of cysteine 878 to serine both abolished activity. These results establish that defects of the MTP gene are the predominant, if not sole, cause of hereditary ABL and that an intact carboxyl terminus is necessary for activity.
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8533758PMC1801399W1516430698What OpenQuestion holds
Registered trials
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