ArticleThe Journal of clinical investigation1988
Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.
Article in The Journal of clinical investigation, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 55 citations in OpenAlex.
- A century of vitamin E research: The innovative journey from basic biology to synthetic bio-manufacturing.Journal of integrative plant biology · 2026Review
- Human Vitamin E deficiency, and what is and is not Vitamin E?Free radical biology & medicine · 2024Review
- Apolipoproteins in vascular biology and atherosclerotic disease.Nature reviews. Cardiology · 2022Review
- Interactions between α-tocopherol, polyunsaturated fatty acids, and lipoxygenases during embryogenesis.Free radical biology & medicine · 2014Review
- Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.European journal of pediatrics · 2003Article
- Article
- Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.The Journal of clinical investigation · 1990Article
- Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.The Journal of clinical investigation · 1988Article
- Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.The Journal of clinical investigation · 1988Article
- Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.Nucleic acids research · 1988Article
- Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.The Journal of clinical investigation · 1988Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. No apoB was detectable in the plasma of HBL individuals with an ELISA assay. These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein.
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