The DOI matches its Crossref record; 48 of the 49 references it cites were found in a registry or an index.
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.
Open accessAbstract
We investigated a family from northern Sweden in which three of four siblings have congenital chylomicronemia. LPL activity and mass in pre- and postheparin plasma were low, and LPL release into plasma after heparin injection was delayed. LPL activity and mass in adipose tissue biopsies appeared normal. [(35)S]Methionine incorporation studies on adipose tissue showed that newly synthesized LPL was normal in size and normally glycosylated. Breast milk from the affected female subjects contained normal to elevated LPL mass and activity levels. The milk had a lower than normal milk lipid content, and the fatty acid composition was compatible with the milk lipids being derived from de novo lipogenesis, rather than from the plasma lipoproteins. Given the delayed release of LPL into the plasma after heparin, we suspected that the chylomicronemia might be caused by mutations in GPIHBP1. Indeed, all three affected siblings were compound heterozygotes for missense mutations involving highly conserved cysteines in the Ly6 domain of GPIHBP1 (C65S and C68G). The mutant GPIHBP1 proteins reached the surface of transfected Chinese hamster ovary cells but were defective in their ability to bind LPL (as judged by both cell-based and cell-free LPL binding assays). Thus, the conserved cysteines in the Ly6 domain are crucial for GPIHBP1 function.
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“Defective lipolysis occurs with genetic defects in LpL; defects in apoC-II; defective association of LpL with the vascular wall due to antibodies to heparin or defects in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1, an LpL-binding protein (75, 76); or defective intracellular LpL processing due to mutated lipase maturation factor 1 (77).”
From Evaluation and Treatment of Hypertriglyceridemia: An Endocrine Society Clinical Practice Guideline (2012) · cites this paper as [76]
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Items 101–118 of 118
Guay, S., Gaudet, D., & Brisson, D. (2011) · Nutrition Metabolism and Cardiovascular Diseases · doi:10.1016/j.numecd.2011.08.005 · Cited by 4
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“Patients with the mutation of GPIHBP1 have chylomicronemia and extremely low levels of LpL in plasma (Davies et al., 2010, Olivecrona et al., 2010).”
BackgroundNew insights in regulation factors of lipoprotein lipase
Jiang, Y., Shu-Hua, X. I. N. G., Cen, W., Chen, J., & Li, X. (2013) · Hereditas (Beijing) · doi:10.3724/sp.j.1005.2013.00830 · Cited by 3
“Gpihbp1 −小鼠出现乳糜微粒血症的现象提示 我们, 人 GBIHBP1基因的突变或缺失可能与乳糜微 粒血症的发病机理有关。近年来, 一些有临床重要 意义的 GPIHBP1 突变位点陆续在患乳糜微粒血症 的人群中被鉴定出来 , 包括 G56R 纯合突变 ([28])、 Q115P纯合突变([29])、C65Y纯合突变([30])、C68Y纯合 突变([31])、G175R纯合突变和 C89F杂合突变([32])、C65S 和 C68G 复合杂合子突变([33])、T108A 纯合突变([23])和 T108R纯合突变([34])。另外, Rios等([35])研究发现, 一个 印度男孩和他的姑妈缺失整个 GPIHBP1, 致使…”
BackgroundInfluentialNguyen, L. P., Song, W., Yang, Y., Tran, A. P., Weston, T. A., Jung, H., Tu, Y., Kim, P. H., Kim, J. R., Xie, K., et al. (2024) · JCI Insight · doi:10.1172/jci.insight.184940 · Cited by 2
“GPIHBP1 deficiency in humans causes lifelong hypertriglyceridemia, with plasma TG levels greater than 1,500 mg/dL (17–20).”
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Mostaza, J. M., Pintó, X., Armario, P., Guijarro, C., Masana, L., Real, J. T., Arrobas-Velilla, T., Baeza‐Trinidad, R., Calmarza, P., Cebollada, J., et al. (2026) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/j.arteri.2025.500889 · Cited by 1
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“Abbreviations GPIHBP1: Glycosylphosphatidylinositol-anchored HDL binding protein1; LPL: Lipoprotein lipase; UTR: Untranslated region; ORF: Open reading frame; NMD: Nonsense-mediated decay; ESEs: Exonic splicing enhancers; ESSs: Exonic splicing silencers; ISEs: Intronic splicing enhancers; ISSs: Intronic splicing silen…”
BackgroundInfluentialActivities Analysis and Polymorphisms Identification of GPIHBP1 Promoter Region in Porcine
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SEA 2026 Standards for Global Control of Vascular Risk
Mostaza, J. M., Pintó, X., Armario, P., Guijarro, C., Masana, L., Real, J. T., Arrobas-Velilla, T., Baeza‐Trinidad, R., Calmarza, P., Cebollada, J., et al. (2026) · Clínica e Investigación en Arteriosclerosis (English Edition) · doi:10.1016/j.artere.2026.500889
Metadata
- Authors
- Olivecrona, G., Ehrenborg, E., Semb, H., Makoveichuk, E., Lindberg, A., Hayden, M. R., Gin, P., Davies, B. S. J., Weinstein, M. M., Fong, L. G., Beigneux, A. P., Young, S. G., Olivecrona, T., & Hernell, O.
- Affiliations
- Umeå University (SE)
- University of British Columbia (CA)
- University of California, Los Angeles (US)
- Corresponding author
- Olivecrona, Gunilla
- ORCID
- Venue
- Journal of Lipid Research
- Publisher
- Elsevier BV
- Published
- 2010-06
- Volume
- 51
- Issue
- 6
- Pages
- 1535-1545
- ISSN
- 0022-2275 (ISSN-L)
- PMC
- PMC3035517
- OpenAlex
- W2168084616
- Cited by
- 118
- References
- 49
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 2 · 2020: 3 · 2019: 4 · 2018: 9 · 2017: 8 · 2016: 8 · 2015: 9 · 2014: 9 · 2013: 7 · 2012: 9
- FWCI
- 8.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Lipid Research (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- American Heart Association
- Heart and Stroke Foundation of Canada
- University of Washington
- Heart and Stroke Foundation of British Columbia and Yukon
- Kempe Foundation
- Hjärt-Lungfonden
- Karolinska Institutet
- Riksbankens Jubileumsfond
- Kempestiftelserna
- National Institutes of Health (HL094732, HL090553)
- Medical Research Council
- National Heart, Lung, and Blood Institute (P01HL090553, R01HL087228, R01HL094732)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
- Keywords
- familial chylomicronemia, GPIHBP1, conserved cysteines, compound heterozygosity, heparin, breast milk, de novo lipogenesis, adipose tissue, missense mutations
- MeSH terms
- Adipose Tissue, Adolescent, Adult, Alleles, Animals, Base Sequence, Carrier Proteins, Child, Preschool, Chylomicrons, Cricetulus, Cysteine, Female, Gene Expression Regulation, Cricetinae, Heparin, Heterozygote, Humans, Lipoprotein Lipase, Male, Middle Aged, Milk, Human, Mutation, Transfection, CHO Cells, Conserved Sequence, Protein Structure, Tertiary, Receptors, Lipoprotein, Mutation, Missense, Siblings, Lipid Metabolism Disorders, Apolipoprotein C-II
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