ArticleJournal of lipid research2012
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
Article in Journal of lipid research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 48 citations in OpenAlex.
- Identification and characterisation of a rareJHEP reports : innovation in hepatology · 2023Article
- 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
- Tissue distribution of transcription for 29 lipid metabolism-related genes in Takifugu rubripes, a marine teleost storing lipid predominantly in liver.Fish physiology and biochemistry · 2020Article
- 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
- MTP genetic variants associated with non-alcoholic fatty liver in metabolic syndrome patients.Genes & diseases · 2017Article
- Article
- Microsomal triglyceride transfer protein gene mutations in Turkish children: A novel mutation and clinical follow up.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2016Article
- Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.Circulation. Cardiovascular genetics · 2015Article
- A Male Infant with Abetalipoproteinemia: A Case Report from Iran.Middle East journal of digestive diseases · 2015Article
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.Diagnostic pathology · 2013Article
- Alternative splicing in the regulation of cholesterol homeostasis.Current opinion in lipidology · 2013Review
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Authors and funding
10 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP). We report here a female patient with an unusual clinical and biochemical ABL phenotype. She presented with severe liver injury, low levels of LDL-cholesterol, and subnormal levels of vitamin E, but only mild fat malabsorption and no retinitis pigmentosa or acanthocytosis. Our objective was to search for MTTP mutations and to determine the relationship between the genotype and this particular phenotype. The subject exhibited compound heterozygosity for two novel MTTP mutations: one missense mutation (p.Leu435His) and an intronic deletion (c.619-5_619-2del). COS-1 cells expressing the missense mutant protein exhibited negligible levels of MTP activity. In contrast, the minigene splicing reporter assay showed an incomplete splicing defect of the intronic deletion, with 26% of the normal splicing being maintained in the transfected HeLa cells. The small amount of MTP activity resulting from the residual normal splicing in the patient explains the atypical phenotype observed. Our investigation provides an example of a functional analysis of unclassified variations, which is an absolute necessity for the molecular diagnosis of atypical ABL cases.
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