ArticleNature communications2016
D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 65 citations in OpenAlex.
- Systemic apolipoprotein C-III amyloidosis in an Asian lion (Panthera leo persica).The Journal of veterinary medical science · 2026Article
- Novel Circulating Biomarkers in Aortic Valve Stenosis.International journal of molecular sciences · 2025Review
- Identification of apolipoprotein E-derived amyloid within cholesterol granulomas of leopard geckos (Eublepharis macularius).Scientific reports · 2024Article
- Signaling pathways of chronic kidney diseases, implications for therapeutics.Signal transduction and targeted therapy · 2022Review
- Renal amyloidosis: a new time for a complete diagnosis.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2022Review
- Pathogenic D76N Variant of βBiology · 2021Article
- The Clinical Impact of Proteomics in Amyloid Typing.Mayo Clinic proceedings · 2021Article
- Renal amyloidosis: an update on diagnosis and pathogenesis.Protoplasma · 2020Review
- Novel clinical manifestations and treatment of hereditary apoA-I amyloidosis: when a good protein turns bad.Kidney international · 2020Article
- Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.BMC nephrology · 2019Review
- Proteomic Analysis for the Diagnosis of Fibrinogen Aα-chain Amyloidosis.Kidney international reports · 2019Article
- Hidden Aggregation Hot-Spots on Human Apolipoprotein E: A Structural Study.International journal of molecular sciences · 2019Article
- Heparan sulfate S-domains and extracellular sulfatases (Sulfs): their possible roles in protein aggregation diseases.Glycoconjugate journal · 2018Review
- Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics.International journal of molecular sciences · 2018Review
- Article
- Hereditary Renal Amyloidosis Associated With a Novel Apolipoprotein A-II Variant.Kidney international reports · 2017Article
- The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.Journal of lipid research · 2017Article
- Sulfated glycosaminoglycans in protein aggregation diseases.Glycoconjugate journal · 2017Review
- Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.Kidney international reports · 2017Article
- Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.Journal of the American Society of Nephrology : JASN · 2017Article
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Authors and funding
27 authors at 15 institutions in 5 countries.
Funding
Abstract
Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal insufficiency caused by a new apolipoprotein C-III variant, D25V. Despite their uremic state, the D25V-carriers exhibit low triglyceride (TG) and apolipoprotein C-III levels, and low very-low-density lipoprotein (VLDL)/high high-density lipoprotein (HDL) profile. Amyloid fibrils comprise the D25V-variant only, showing that wild-type apolipoprotein C-III does not contribute to amyloid deposition in vivo. The mutation profoundly impacts helical structure stability of D25V-variant, which is remarkably fibrillogenic under physiological conditions in vitro producing typical amyloid fibrils in its lipid-free form. D25V apolipoprotein C-III is a new human amyloidogenic protein and the first conferring cardioprotection even in the unfavourable context of renal failure, extending the evidence for an important cardiovascular protective role of apolipoprotein C-III deficiency. Thus, fibrate therapy, which reduces hepatic APOC3 transcription, may delay amyloid deposition in affected patients.
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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.