ArticleNucleic acids research1988
Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.
Article in Nucleic acids research, 1988. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 102 citations in OpenAlex.
- Article
- Hsp40s play distinct roles during the initial stages of apolipoprotein B biogenesis.Molecular biology of the cell · 2022Article
- Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.Nature communications · 2020Article
- Can modulators of apolipoproteinB biogenesis serve as an alternate target for cholesterol-lowering drugs?Biochimica et biophysica acta. Molecular and cell biology of lipids · 2018Review
- Human plasma protein N-glycosylation.Glycoconjugate journal · 2016Review
- Insights from human congenital disorders of intestinal lipid metabolism.Journal of lipid research · 2015Review
- Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.Case reports in gastroenterology · 2012Article
- Violent behavior associated with hypocholesterolemia due to a novel APOB gene mutation.Molecular psychiatry · 2007Article
- A cholesterol-lowering gene maps to chromosome 13q.American journal of human genetics · 2000Article
- Lipoprotein composition and serum Lp(a) lipoprotein in hypobetalipoproteinaemia.Journal of clinical pathology · 1995Article
- The human apolipoprotein B 3' hypervariable region: detection of eight new alleles and comparisons of allele frequencies in blacks and whites.Human genetics · 1993Article
- Transcriptional regulation of the apolipoprotein B100 gene: purification and characterization of trans-acting factor BRF-2.Molecular and cellular biology · 1992Article
- Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia.The Journal of clinical investigation · 1991Article
- Expression, secretion, and lipid-binding characterization of the N-terminal 17% of apolipoprotein B.Proceedings of the National Academy of Sciences of the United States of America · 1991Article
- Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.Human genetics · 1991Article
- Anderson's disease: genetic exclusion of the apolipoprotein-B gene in two families.The Journal of clinical investigation · 1991Article
- Application of the polymerase chain reaction to the diagnosis of human genetic disease.Human genetics · 1990Review
- Exclusion of linkage between the human apolipoprotein B gene and abetalipoproteinemia.American journal of human genetics · 1990Article
- RNA editing: a novel mechanism for the regulation of dietary cholesterol absorption. The Humphry Davy Rolleston lecture 1989.Journal of the Royal College of Physicians of London · 1990Article
- 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
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypobetalipoproteinaemia is a rare autosomal dominant disorder in which levels of apo-B-containing plasma lipoproteins are approximately half-normal in heterozygotes and virtually absent in homozygotes. Here we describe mutations of the apo-B gene that cause two different truncated variants of apo-B in unrelated individuals with hypobetalipoproteinaemia. One variant, apo-B(His1795----Met-Trp-Leu-Val-Thr-Term) is predicted to be 1799 amino acids long and arises from deletion of a single nucleotide (G) from leucine codon 1794. This protein was found at low levels in very low density and low density lipoprotein fractions in the blood. The second, shorter variant, apo-B(Arg1306----Term), is caused by mutation of a CpG dinucleotide in arginine codon 1306 converting it to a stop codon and predicting a protein of 1305 residues. The product of this allele could not be detected in the circulation. The differences in size and behaviour of these two variants compared to apo-B100 or apo-B48 point to domains that may be important for the assembly, secretion or stability of apo-B-containing lipoproteins.
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