ArticleScientific reports2015
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 39 citations in OpenAlex.
- Bridging precision agriculture and human medicine through comparative genetics.Nature reviews. Genetics · 2026Review
- Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.Human genomics · 2025Article
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Article
- Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.Revista da Associacao Medica Brasileira (1992) · 2025Observational
- Prevalence and penetrance of pathogenic and likely pathogenicFrontiers in genetics · 2025Article
- Article
- Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.European journal of public health · 2022Article
- Familial Hypercholesterolemia: Global Burden and Approaches.Current cardiology reports · 2021Review
- Identification of novel variants in theBiomedical reports · 2021Article
- Cholesterol Efflux Efficiency of Reconstituted HDL Is Affected by Nanoparticle Lipid Composition.Biomedicines · 2020Article
- Color Data v2: a user-friendly, open-access database with hereditary cancer and hereditary cardiovascular conditions datasets.Database : the journal of biological databases and curation · 2020Article
- Genetics of Familial Hypercholesterolemia: New Insights.Frontiers in genetics · 2020Review
- Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.PloS one · 2019Article
- Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.International journal of molecular sciences · 2018Review
- Genetic Architecture of Familial Hypercholesterolaemia.Current cardiology reports · 2017Review
- Structural changes induced by acidic pH in human apolipoprotein B-100.Scientific reports · 2016Article
- Preparation of a Functional Rat LDL Receptor Minigene.International journal of biomedical investigationArticle
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolaemia (FH) is an inherited autosomal dominant disorder resulting from defects in the low-density lipoprotein receptor (LDLR), in the apolipoprotein B (APOB) or in the proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the majority of the cases FH is caused by mutations occurring within LDLR, while only few mutations in APOB and PCSK9 have been proved to cause disease. p.(Arg3527Gln) was the first mutation in APOB being identified and characterized. Recently two novel pathogenic APOB variants have been described: p.(Arg1164Thr) and p.(Gln4494del) showing impaired LDLR binding capacity, and diminished LDL uptake. The objective of this work was to analyse the structure of p.(Arg1164Thr) and p.(Gln4494del) variants to gain insight into their pathogenicity. Secondary structure of the human ApoB100 has been investigated by infrared spectroscopy (IR) and LDL particle size both by dynamic light scattering (DLS) and electron microscopy. The results show differences in secondary structure and/or in particle size of p.(Arg1164Thr) and p.(Gln4494del) variants compared with wild type. We conclude that these changes underlie the defective binding and uptake of p.(Arg1164Thr) and p.(Gln4494del) variants. Our study reveals that structural studies on pathogenic variants of APOB may provide very useful information to understand their role in FH disease.
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