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 GPIHBP1; or defective intracellular LpL processing due to mutated lipase maturation factor 1.
“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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ResultGPIHBP1 and Plasma Triglyceride Metabolism
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Davies, B. S. J., Beigneux, A. P., Fong, L. G., & Young, S. G. (2011) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32834d0b33 · Cited by 59 · see citing works
Self-citationMutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1
Voss, C. V., Davies, B. S. J., Tat, S., Gin, P., Fong, L. G., Pelletier, C., Mottler, C. D., Bensadoun, A., Beigneux, A. P., & Young, S. G. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100992108 · Cited by 58 · see citing works
Self-citationPrieto, I. C., Kroupa, O., González‐Santos, P., Magné, J., Olivecrona, G., Ehrenborg, E., & Valdivielso, P. (2011) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2011.02361.x · Cited by 57 · see citing works
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Allelic and phenotypic spectrum of plasma triglycerides
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Beigneux, A. P., Davies, B. S. J., Tat, S., Chen, J., Gin, P., Voss, C. V., Weinstein, M. M., Bensadoun, A., Pullinger, C. R., Fong, L. G., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.242024 · Cited by 55 · see citing works
Self-citationChylomicronemia from GPIHBP1 autoantibodies
Miyashita, K., Lutz, J., Hudgins, L. C., Toib, D., Ashraf, A. P., Song, W., Murakami, M., Nakajima, K., Ploug, M., Fong, L. G., et al. (2020) · Journal of Lipid Research · doi:10.1194/jlr.r120001116 · Cited by 54 · see citing works
Self-citationBeigneux, A. P., Fong, L. G., Bensadoun, A., Davies, B. S. J., Oberer, M., Gårdsvoll, H., Ploug, M., & Young, S. G. (2014) · Circulation Research · doi:10.1161/circresaha.116.305085 · Cited by 53 · see citing works
“GPIHBP1 Constructs Human GPIHBP1 mammalian expression vectors containing an amino-terminal S-protein tag have been described previously.(5,17) For expression of GPIHBP1 in insect cells, we cloned a cDNA encoding human uPAR domain III (uPAR-DIII) in-frame with human GPIHBP1 amino acids 21 to 136, followed by mouse GPIH…”
MethodSelf-citationA unified model for regulating lipoprotein lipase activity
Zhang, R., & Zhang, K. (2024) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2024.02.016 · Cited by 51 · see citing works
The heparan sulfate proteoglycan grip on hyperlipidemia and atherosclerosis
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Self-citationPlengpanich, W., Young, S. G., Khovidhunkit, W., Bensadoun, A., Karnman, H., Ploug, M., Gårdsvoll, H., Leung, C. S., Adeyo, O., Larsson, M., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.558528 · Cited by 48 · see citing works
“Earlier studies showed that missense mutations in the GPIHBP1 Ly6 domain interfere with LPL binding and transport and cause severe hypertriglyceridemia (12, 13, 15, 16, 21, 23).”
BackgroundResultSelf-citationMobility of “HSPG-bound” LPL explains how LPL is able to reach GPIHBP1 on capillaries
Allan, C. M., Larsson, M., Jung, R. S., Ploug, M., Bensadoun, A., Beigneux, A. P., Fong, L. G., & Young, S. G. (2016) · Journal of Lipid Research · doi:10.1194/jlr.m072520 · Cited by 48 · see citing works
Self-citationGin, P., Beigneux, A. P., Voss, C. V., Davies, B. S. J., Beckstead, J. A., Ryan, R. O., Bensadoun, A., Fong, L. G., & Young, S. G. (2010) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.110.214718 · Cited by 48 · see citing works
“Each of these mutations abolishes GPIHBP1’s ability to bind LPL.(1-4)”
Self-citationAriza, M. J., Rioja, J., Ibarretxe, D., Camacho, A., Díaz-Díaz, J. L., Mangas, A., Herencia, J. A. C., Ruiz‐Ocaña, P., Lamíquiz-Moneo, I., Mosquera, D., et al. (2018) · Journal of clinical lipidology · doi:10.1016/j.jacl.2018.07.013 · Cited by 46 · see citing works
Treatment options for hypertriglyceridemia: From risk reduction to pancreatitis
Berglund, L., Brunzell, J. D., Goldberg, A. C., Goldberg, I. J., & Stalenhoef, A. (2014) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2013.10.002 · Cited by 50 · see citing works
The Complex Genetic Basis of Plasma Triglycerides
Johansen, C. T., & Hegele, R. A. (2012) · Current Atherosclerosis Reports · doi:10.1007/s11883-012-0243-2 · Cited by 42 · see citing works
Influence of apolipoprotein A-V on the metabolic fate of triacylglycerol
Sharma, V., Forte, T. M., & Ryan, R. O. (2012) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e32835c8c1a · Cited by 39 · see citing works
“[39] identified point mutations in GPIHBP1 that are associated with defective LPL binding and chylomicronemia while Rios et al.”
BackgroundNilsson, S. K., Anderson, F., Ericsson, M., Larsson, M., Makoveichuk, E., Lõokene, A., Heeren, J., & Olivecrona, G. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2012.06.003 · Cited by 39 · see citing works
Self-citationMartín-Campos, J. M., Julve, J., Roig, R., Martínez, S., Errico, T. L., Martínez-Couselo, S., Escolá‐Gil, J. C., Méndez‐González, J., & Blanco‐Vaca, F. (2013) · Clinica Chimica Acta · doi:10.1016/j.cca.2013.11.025 · Cited by 37 · see citing works
GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia
Hu, X., Dallinga‐Thie, G. M., Hovingh, G. K., Chang, S. Y., Sandoval, N. P., Dang, T. L. P., Fukamachi, I., Miyashita, K., Nakajima, K., Murakami, M., et al. (2017) · Journal of clinical lipidology · doi:10.1016/j.jacl.2017.05.017 · Cited by 36 · see citing works
Self-citationEstándares SEA 2022 para el control global del riesgo cardiovascular
Mostaza, J. M., Pintó, X., Armario, P., Masana, L., Real, J. T., Valdivielso, P., Arrobas-Velilla, T., Baeza‐Trinidad, R., Calmarza, P., Cebollada, J., et al. (2022) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/j.arteri.2021.11.003 · Cited by 35 · see citing works
Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis
Xie, S., Chen, T., Huang, X., Chen, C., Jin, R., Huang, Z., & Zhou, M. (2015) · PLoS ONE · doi:10.1371/journal.pone.0129488 · Cited by 31 · see citing works
“Both variants of p.A98T and p.C14F had been described in individuals with familial LPL deficiency and HTG.[41, 42] The general therapy for gestational HTP is to alleviate TG levels during the acute episodes with a very low-fat diet ( 10% of total caloric intake), hospitalization for intravenous fluid therapy and paren…”
BackgroundInfluentialNovel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
Ariza, M. J., Martínez-Hernández, P. L., Ibarretxe, D., Rabacchi, C., Rioja, J., Grande-Aragón, C., Plana, N., Tarugi, P., Olivecrona, G., Calandra, S., et al. (2015) · Journal of clinical lipidology · doi:10.1016/j.jacl.2015.09.007 · Cited by 30 · see citing works
Self-citationNovel Combined GPIHBP1 Mutations in a Patient with Hypertriglyceridemia Associated with CAD
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A protein of capillary endothelial cells, GPIHBP1, is crucial for plasma triglyceride metabolism
Young, S. G., Song, W., Yang, Y., Birrane, G., Jiang, H., Beigneux, A. P., Ploug, M., & Fong, L. G. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2211136119 · Cited by 26 · see citing works
“Plasma TG levels in heterozygotes appear to be normal (26, 75).”
BackgroundSelf-citationKumari, A., Grønnemose, A. L., Kristensen, K. K., Winther, A.-M. L., Young, S. G., Jørgensen, T. J. D., & Ploug, M. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2221888120 · Cited by 24 · see citing works
“Biallelic loss-of-function variants in GPIHBP1 (32–34)—as well as GPIHBP1 autoantibodies—cause chylomi-cronemia (35, 36).”
Self-citationGonzaga-Jauregui, C., Mir, S. A. V., Penney, S., Jhangiani, S., Midgen, C., Finegold, M., Muzny, D., Wang, M., Bacino, C., Gibbs, R., et al. (2014) · Journal of Pediatric Gastroenterology and Nutrition - JPGN · doi:10.1097/mpg.0000000000000363 · Cited by 24 · see citing works
Estándares SEA 2019 para el control global del riesgo cardiovascular
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“, lipase maturation factor1 (LMF1) and glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1); thus, they are of importance for studying HTG [4,5], although mutations of LPL gene are responsible for the most common form of primary severe HTG.”
BackgroundRabacchi, C., D’Addato, S., Palmisano, S., Lucchi, T. A., Bertolini, S., Calandra, S., & Tarugi, P. (2016) · Journal of clinical lipidology · doi:10.1016/j.jacl.2016.03.009 · Cited by 24 · see citing works
An enzyme-linked immunosorbent assay for measuring GPIHBP1 levels in human plasma or serum
Miyashita, K., Fukamachi, I., Nagao, M., Ishida, T., Kobayashi, J., Machida, T., Nakajima, K., Murakami, M., Ploug, M., Beigneux, A. P., et al. (2017) · Journal of clinical lipidology · doi:10.1016/j.jacl.2017.10.022 · Cited by 24 · see citing works
Self-citationWang, Y., Tong, J., Li, S., Zhang, R., Chen, L., Wang, Y., Zheng, M., Wang, M., Liu, C., Dai, Y., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020895 · Cited by 23 · see citing works
“One is that hLPL produced by the transgenic mice competes with endogenous mouse LPL the binding sites at GPIHBP1 which is responsible for the transport of LPL into capillaries [6], leading to a limited capacity to transport LPL to the vascular endothelium where it directs the movement of fatty acid into the mammary ce…”
BackgroundSong, W., Beigneux, A. P., Winther, A.-M. L., Kristensen, K. K., Grønnemose, A. L., Yang, Y., Tu, Y., Munguia, P., Morales, J., Jung, H., et al. (2022) · Journal of Clinical Investigation · doi:10.1172/jci157500 · Cited by 22 · see citing works
“The in vivo relevance of the LU domain was firmly established by finding absent intravascular LPL and severe chylomicronemia in knockin mice harboring a single cysteine substitution in the LU domain (16, 17).”
BackgroundSelf-citationReimund, M., Larsson, M., Kovrov, O., Kasvandik, S., Olivecrona, G., & Lõokene, A. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.634626 · Cited by 22 · see citing works
Self-citationGPIHBP1 autoantibody syndrome during interferon β1a treatment
Eguchi, J., Miyashita, K., Fukamachi, I., Nakajima, K., Murakami, M., Kawahara, Y., Yamashita, T., Ohta, Y., Abe, K., Nakatsuka, A., et al. (2018) · Journal of clinical lipidology · doi:10.1016/j.jacl.2018.10.004 · Cited by 22 · see citing works
Self-citationA novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases
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Nyrén, R., Chang, C. L., Lindström, P., Barmina, A., Vorrsjö, E., Ali, Y., Juntti‐Berggren, L., Bensadoun, A., Young, S. G., Olivecrona, T., et al. (2012) · BMC Physiology · doi:10.1186/1472-6793-12-14 · Cited by 19 · see citing works
“Mutations within one of the motifs have been identified in patients with severe chylomicronemia [5-8].”
BackgroundSelf-citationType 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1
Patni, N., Brothers, J. A., Xing, C., & Garg, A. (2016) · Journal of clinical lipidology · doi:10.1016/j.jacl.2016.04.001 · Cited by 18 · see citing works
Lipoprotein lipase transporter GPIHBP1 and triglyceride-rich lipoprotein metabolism
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“Cefalu AB, Noto D, Arpi ML, Yin F, Spina R, Hilden H, Barbagallo CM, Carroccio A, Tarugi P, Squatrito S, Vigneri R, Taskinen MR, Péterfy M, Averna MR: Novel LMF1 Nonsense mutation in a patient with severe hypertriglyceridemia.”
BackgroundInfluentialWeinstein, M. M., Tu, Y., Beigneux, A. P., Davies, B. S. J., Gin, P., Voss, C. V., Walzem, R. L., Reue, K., Tontonoz, P., Bensadoun, A., et al. (2010) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.110.214403 · Cited by 18 · see citing works
Self-citationGPIHBP1 and the processing of triglyceride-rich lipoproteins
Beigneux, A. P. (2010) · Clinical Lipidology · doi:10.2217/clp.10.43 · Cited by 17 · see citing works
Self-citationAllan, C. M., Jung, C. J., Larsson, M., Heizer, P. J., Tu, Y., Sandoval, N. P., Dang, T. L. P., Jung, R. S., Beigneux, A. P., de Jong, P. J., et al. (2017) · Journal of Lipid Research · doi:10.1194/jlr.m076943 · Cited by 17 · see citing works
“Ly6 domain or an adjacent residue (6, 7, 9, 10).”
BackgroundSelf-citationYang, J., Liu, X. E., Wang, D., Ning, C., Wang, H., Zhang, Q., & Jiang, L. (2017) · Scientific Reports · doi:10.1038/s41598-017-08668-6 · Cited by 17 · see citing works
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
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“In the LU domain, many of the mutations involve a cysteine 27 – 29, 32, 35 , which disrupts”
Shetty, S. K., Walzem, R. L., & Davies, B. S. J. (2020) · Journal of Lipid Research · doi:10.1194/jlr.d119000388 · Cited by 16 · see citing works
Self-citationValdivielso, P., Pintó, X., Mateo‐Gállego, R., Masana, L., Álvarez-Sala, L., Jarauta, E., Suárez, M., García-Arias, C., Plana, N., & Laguna, F. (2011) · Medicina Clínica · doi:10.1016/j.medcli.2010.09.028 · Cited by 15 · see citing works
Marmontel, O., Filippo, M. D., Marçais, C., Nony, S., Dumoux, M., Dancer, M. S., Caussy, C., Charrière, S., & Moulin, P. (2017) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2017.07.030 · Cited by 14 · see citing works
An LPL–specific monoclonal antibody, 88B8, that abolishes the binding of LPL to GPIHBP1
Allan, C. M., Larsson, M., Hu, X., He, C. H., Jung, R. S., Mapar, A., Voss, C. V., Miyashita, K., Machida, T., Murakami, M., et al. (2016) · Journal of Lipid Research · doi:10.1194/jlr.m070813 · Cited by 14 · see citing works
Self-citationAdeyo, O., Oberer, M., Ploug, M., Fong, L. G., Young, S. G., & Beigneux, A. P. (2015) · British Journal of Dermatology · doi:10.1111/bjd.13868 · Cited by 14 · see citing works
Self-citationTurlo, K. A., Leung, C. S., Seo, J. J., Goulbourne, C. N., Adeyo, O., Gin, P., Voss, C. V., Bensadoun, A., Fong, L. G., Young, S. G., et al. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2014.03.011 · Cited by 13 · see citing works
“GPIHBP1 deficiency markedly reduces LPL levels within capillaries [24] and results in high plasma triglyceride levels and low levels of LPL in the pre- and post-heparin plasma [25, 26, 28, 29].”
BackgroundSelf-citationLipoprotein lipase reaches the capillary lumen in chickens despite an apparent absence of GPIHBP1
He, C. H., Hu, X., Jung, R. S., Larsson, M., Tu, Y., Duarte‐Vogel, S., Kim, P., Sandoval, N. P., Price, T. R., Allan, C. M., et al. (2017) · JCI Insight · doi:10.1172/jci.insight.96783 · Cited by 13 · see citing works
Self-citationMiyashita, K., Fukamachi, I., Machida, T., Nakajima, K., Young, S. G., Murakami, M., Beigneux, A. P., & Nakajima, K. (2018) · Clinica Chimica Acta · doi:10.1016/j.cca.2018.09.039 · Cited by 12 · see citing works
Self-citationSEA 2024 Standards for Global Control of Vascular Risk
Mostaza, J. M., Pintó, X., Armario, P., Masana, L., Real, J. T., Valdivielso, P., Arrobas-Velilla, T., Baeza‐Trinidad, R., Calmarza, P., Cebollada, J., et al. (2024) · Clínica e Investigación en Arteriosclerosis (English Edition) · doi:10.1016/j.artere.2024.06.001 · Cited by 11 · see citing works
Larsson, M., Allan, C. M., Heizer, P. J., Tu, Y., Sandoval, N. P., Jung, R. S., Walzem, R. L., Beigneux, A. P., Young, S. G., & Fong, L. G. (2018) · Journal of Lipid Research · doi:10.1194/jlr.m083832 · Cited by 12 · see citing works
“Human patients with GPIHBP1 loss-of-function mutations manifest chylomicronemia, with plasma triglyceride levels greater than 1,500 mg/dl (7-9).”
BackgroundSelf-citationGPIHBP1: Lipoprotein Lipase's Ticket to Ride
Fisher, E. A. A. (2010) · Cell Metabolism · doi:10.1016/j.cmet.2010.06.005 · Cited by 11 · see citing works
“Notably, this shuttle function depended on the ability of GPIHBP1 to bind LPL, a finding supported by the severe hypertriglyceridemia in humans with mutations in GPIHBP1 that impair LPL binding (Beigneux et al., 2009; Franssen et al., 2010; Olivecrona et al., 2010).”
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Therapeutic inhibition of apoC-III for the treatment of hypertriglyceridemia
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Triglycerides and Cardiovascular Disease : A Scientific Statement From the
Pennathur, S., Kris‐Etherton, P. M., Lennie, T. A., Levi, M., Mazzone, T., Ginsberg, H. N., Goldberg, A. C., Howard, W. J., Stone, N. J., Ballantyne, C. M., et al. (2011) · Cited by 6 · see citing works
Surendran, R. P., Udayappan, S. D., Clemente‐Postigo, M., Havik, S. R., Schimmel, A. W. M., Tinahones, F. J., Nieuwdorp, M., & Dallinga‐Thie, G. M. (2018) · PLoS ONE · doi:10.1371/journal.pone.0205858 · Cited by 6 · see citing works
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Šuštar, U., Grošelj, U., Khan, S. A., Shafi, S., Khan, I., Kovač, J., Bizjan, B. J., Battelino, T., & Sadiq, F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.983283 · Cited by 5 · see citing works
“Cys89Ter (Olivecrona et al., 2010; Charrière et al., 2011; Iacocca et al., 2019) with severe elevation in TG (1,000–6,480 mg/dl, 11.”
Background
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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