ArticleJournal of lipid research2013
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
Article in Journal of lipid research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 50 citations in OpenAlex.
- Dyslipidaemia and hepatic steatosis: mechanisms and implications for lipid-lowering therapy.Nature reviews. Cardiology · 2026Review
- Article
- Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.Frontiers in medicine · 2026Article
- 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
- Human hepatoma Huh-7 cell culture models deficient in apolipoprotein B secretion.Journal of lipid research · 2025Article
- Pla2g12b drives expansion of triglyceride-rich lipoproteins.Nature communications · 2024Article
- Identification and characterisation of a rareJHEP reports : innovation in hepatology · 2023Article
- Pre-Diabetes-Linked miRNA miR-193b-3p Targets PPARGC1A, Disrupts Metabolic Gene Expression Profile and Increases Lipid Accumulation in Hepatocytes: Relevance for MAFLD.International journal of molecular sciences · 2023Article
- Microsomal triglyceride transfer protein regulates intracellular lipolysis in adipocytes independent of its lipid transfer activity.Metabolism: clinical and experimental · 2022Article
- Mechanism Analysis of Metabolic Fatty Liver on Largemouth Bass (Metabolites · 2022Article
- Impact ofViruses · 2021Article
- A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein.PLoS genetics · 2020Article
- Model systems for studying the assembly, trafficking, and secretion of apoB lipoproteins using fluorescent fusion proteins.Journal of lipid research · 2020Article
- The crystal structure of human microsomal triglyceride transfer protein.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Complex genetic architecture in severe hypobetalipoproteinemia.Lipids in health and disease · 2018Article
- Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.Virchows Archiv : an international journal of pathology · 2018Review
- Mice subjected to aP2-Cre mediated ablation of microsomal triglyceride transfer protein are resistant to high fat diet induced obesity.Nutrition & metabolism · 2016Article
- MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.BMC medical genetics · 2015Article
- Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.Circulation. Cardiovascular genetics · 2015Article
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in microsomal triglyceride transfer protein (MTP) cause abetalipoproteinemia (ABL), characterized by the absence of plasma apoB-containing lipoproteins. In this study, we characterized the effects of various MTP missense mutations found in ABL patients with respect to their expression, subcellular location, and interaction with protein disulfide isomerase (PDI). In addition, we characterized functional properties by analyzing phospholipid and triglyceride transfer activities and studied their ability to support apoB secretion. All the mutants colocalized with calnexin and interacted with PDI. We found that R540H and N780Y, known to be deficient in triglyceride transfer activity, also lacked phospholipid transfer activity. Novel mutants S590I and G746E did not transfer triglycerides and phospholipids and did not assist in apoB secretion. In contrast, D384A displayed both triglyceride and phospholipid transfer activities and supported apoB secretion. These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.