{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T21:27:51Z","timestamp":1791149271404,"version":"4.1.0"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["ATVB"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Objective\u2014<\/jats:italic>\n            <\/jats:bold>\n            GPIHBP1 is an endothelial cell protein that binds lipoprotein lipase (LPL) and chylomicrons. Because GPIHBP1 deficiency causes chylomicronemia in mice, we sought to determine whether some cases of chylomicronemia in humans could be attributable to defective\n            <jats:italic>GPIHBP1<\/jats:italic>\n            proteins.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods and Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            Patients with severe hypertriglyceridemia (n=60, with plasma triglycerides above the 95th percentile for age and gender) were screened for mutations in\n            <jats:italic>GPIHBP1<\/jats:italic>\n            . A homozygous\n            <jats:italic>GPIHBP1<\/jats:italic>\n            mutation (c.344A&gt;C) that changed a highly conserved glutamine at residue 115 to a proline (p.Q115P) was identified in a 33-year-old male with lifelong chylomicronemia. The patient had failure-to-thrive as a child but had no history of pancreatitis. He had no mutations in\n            <jats:italic>LPL<\/jats:italic>\n            ,\n            <jats:italic>APOA5<\/jats:italic>\n            , or\n            <jats:italic>APOC2<\/jats:italic>\n            . The Q115P substitution did not affect the ability of GPIHBP1 to reach the cell surface. However, unlike wild-type GPIHBP1, GPIHBP1-Q115P lacked the ability to bind LPL or chylomicrons (\n            <jats:italic>d<\/jats:italic>\n            &lt; 1.006 g\/mL lipoproteins from\n            <jats:italic>Gpihbp1<\/jats:italic>\n            <jats:sup>\u2212\/\u2212<\/jats:sup>\n            mice). Mouse GPIHBP1 with the corresponding mutation (Q114P) also could not bind LPL.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            A homozygous missense mutation in\n            <jats:italic>GPIHBP1<\/jats:italic>\n            (Q115P) was identified in a patient with chylomicronemia. The mutation eliminated the ability of GPIHBP1 to bind LPL and chylomicrons, strongly suggesting that it caused the patient\u2019s chylomicronemia.\n          <\/jats:p>","DOI":"10.1161\/atvbaha.109.186577","type":"journal-article","created":{"date-parts":[[2009,3,20]],"date-time":"2009-03-20T02:19:12Z","timestamp":1237515552000},"page":"956-962","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":156,"title":["Chylomicronemia With a Mutant GPIHBP1 (Q115P) That Cannot Bind Lipoprotein Lipase"],"prefix":"10.1161","volume":"29","author":[{"given":"Anne P.","family":"Beigneux","sequence":"first","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Remco","family":"Franssen","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre\u0301","family":"Bensadoun","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Gin","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristan","family":"Melford","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Peter","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosemary L.","family":"Walzem","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael M.","family":"Weinstein","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon S.J.","family":"Davies","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan A.","family":"Kuivenhoven","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.P.","family":"Kastelein","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loren G.","family":"Fong","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geesje M.","family":"Dallinga-Thie","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen G.","family":"Young","sequence":"additional","affiliation":[{"name":"From the Departments of Medicine (A.P.B., P.G., B.S.J.D., M.M.W., L.G.F., S.G.Y.) and Human Genetics (M.M.W., S.G.Y.), David Geffen School of Medicine, University of California, Los Angeles; the Department of Vascular Medicine (R.F., J.J.K.) and the Laboratory of Experimental Vascular Medicine (G.D.T., J.P., J.A.K.), Amsterdam Medical Center, The Netherlands; the Division of Nutritional Science (K.M., A.B.), Cornell University, Ithaca, NY; and Departments of Poultry Science and Nutrition and Food..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_1_2","unstructured":"Brunzell JD Deeb SS. Familial lipoprotein lipase deficiency apo C-II deficiency and hepatic lipase deficiency. In: Scriver CR Beaudet AL Sly WS Valle D Childs B Kinzler KW Vogelstein B eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001."},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2007.02.002"},{"key":"e_1_3_3_3_2","unstructured":"Havel RJ Kane JP. Introduction: Structure and metabolism of plasma lipoproteins. In: Scriver CR Beaudet AL Sly WS Valle D Childs B Kinzler KW Vogelstein B eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M802579200"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1110\/ps.062242606"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/MOL.0b013e3281527914"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511X-6-23"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2007.10.005"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.CCM.0000063260.07222.76"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.102.14.1629"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(96)63025-0"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.10.3197"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M108128200"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)94253-5"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI2912"},{"key":"e_1_3_3_16_2","first-page":"34511","volume":"50","year":"2008","unstructured":"Weinstein MM, Beigneux AP, Davies BS, Gin P, Yin L, Estrada K, Melford K, Bishop JR, Dallinga-Thie GM, Esko JD, Fong LG, Bensadoun A, Young SG. Abnormal patterns of lipoprotein lipase release into the plasma in GPIHBP1-deficient mice. J Biol Chem. 2008; 50: 34511\u201334518.","journal-title":"J Biol Chem"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010602"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600635"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.185.3.507"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)33415-X"}],"container-title":["Arteriosclerosis, Thrombosis, and Vascular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/ATVBAHA.109.186577","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T23:00:11Z","timestamp":1715554811000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/ATVBAHA.109.186577"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1161\/ATVBAHA.109.186577"],"URL":"https:\/\/doi.org\/10.1161\/atvbaha.109.186577","relation":{},"ISSN":["1079-5642","1524-4636"],"issn-type":[{"value":"1079-5642","type":"print"},{"value":"1524-4636","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6]]},"assertion":[{"value":"2009-03-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}