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Grossi Paoletti (S.S., L.C., G.F.), Department of Pharmacological..." } ], "person_or_org": { "family_name": "Franceschini", "given_name": "Guido", "name": "Franceschini, Guido", "type": "personal" } }, { "affiliations": [ { "name": "From the Department of Internal Medicine (L.P., R.S., S.B.), University of Genoa, Genoa, Italy; Department of Pharmacological and Biological Sciences and Applied Chemistries (E.F., M.P.A., F.B.) and Department of Internal Medicine and Biomedical Sciences (I.Z., D.A.), University of Parma, Parma, Italy; Department of Biomedical Sciences (L.M., T.F., P.T., S.C.), University of Modena and Reggio Emilia, Modena, Italy; and Center E. Grossi Paoletti (S.S., L.C., G.F.), Department of Pharmacological..." } ], "person_or_org": { "family_name": "Tarugi", "given_name": "Patrizia", "name": "Tarugi, Patrizia", "type": "personal" } }, { "affiliations": [ { "name": "From the Department of Internal Medicine (L.P., R.S., S.B.), University of Genoa, Genoa, Italy; Department of Pharmacological and Biological Sciences and Applied Chemistries (E.F., M.P.A., F.B.) and Department of Internal Medicine and Biomedical Sciences (I.Z., D.A.), University of Parma, Parma, Italy; Department of Biomedical Sciences (L.M., T.F., P.T., S.C.), University of Modena and Reggio Emilia, Modena, Italy; and Center E. Grossi Paoletti (S.S., L.C., G.F.), Department of Pharmacological..." } ], "person_or_org": { "family_name": "Calandra", "given_name": "Sebastiano", "name": "Calandra, Sebastiano", "type": "personal" } }, { "affiliations": [ { "name": "From the Department of Internal Medicine (L.P., R.S., S.B.), University of Genoa, Genoa, Italy; Department of Pharmacological and Biological Sciences and Applied Chemistries (E.F., M.P.A., F.B.) and Department of Internal Medicine and Biomedical Sciences (I.Z., D.A.), University of Parma, Parma, Italy; Department of Biomedical Sciences (L.M., T.F., P.T., S.C.), University of Modena and Reggio Emilia, Modena, Italy; and Center E. Grossi Paoletti (S.S., L.C., G.F.), Department of Pharmacological..." } ], "person_or_org": { "family_name": "Bertolini", "given_name": "Stefano", "name": "Bertolini, Stefano", "type": "personal" } } ], "description": "Background\u2014\n \n Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases.\n Angptl3\n knockout mice have marked hypolipidemia, and heterozygous carriers of\n ANGPLT3\n , loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies. Recently, 4 related individuals with primary hypolipidemia were found to be compound heterozygotes for\n ANGPTL3\n loss-of-function mutations.\n \n \n \n Methods and Results\u2014\n \n We resequenced\n ANGPTL3\n in 4 members of 3 kindreds originally identified for very low levels of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol (0.97\u00b10.16 and 0.56\u00b10.20 mmol/L, respectively) in whom no mutations of known candidate genes for monogenic hypobetalipoproteinemia and hypoalphalipoproteinemia had been detected. These subjects were found to be homozygous or compound heterozygous for\n ANGPTL3\n loss-of-function mutations (p.G400VfsX5, p.I19LfsX22/p.N147X) associated with the absence of ANGPTL3 in plasma. They had reduced plasma levels of triglyceride-containing lipoproteins and of HDL particles that contained only apolipoprotein A-I and pre-\u03b2\u2013high-density lipoprotein. In addition, their apolipoprotein B\u2013depleted sera had a reduced capacity to promote cell cholesterol efflux through the various pathways (ABCA1-, SR-BI\u2013, and ABCG1-mediated efflux); however, these subjects had no clinical evidence of accelerated atherosclerosis. Heterozygous carriers of the\n ANGPTL3\n mutations had low plasma ANGPTL3 and moderately reduced low-density lipoprotein cholesterol (2.52\u00b10.38 mmol/L) but normal plasma high-density lipoprotein cholesterol.\n \n \n \n Conclusions\u2014\n \n Complete ANGPTL3 deficiency caused by loss-of-function mutations of\n ANGPTL3\n is associated with a recessive hypolipidemia characterized by a reduction of apolipoprotein B and apolipoprotein A-I\u2013containing lipoproteins, changes in subclasses of high-density lipoprotein, and reduced cholesterol efflux potential of serum. Partial ANGPTL3 deficiency is associated only with a moderate reduction of low-density lipoprotein.", "languages": [ { "id": "eng", "title": { "en": "English" } } ], "publication_date": "2011-11-08", "publisher": "Zenodo", "resource_type": { "id": "publication-article", "title": { "de": "Zeitschriftenartikel", "en": "Journal article" } }, "rights": [ { "description": { "en": "" }, "id": "other-open", "title": { "en": "Other (Open)" } } ], "title": "Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3" }, "parent": { "access": { "owned_by": { "user": "1231459" }, "settings": { "accept_conditions_text": null, "allow_guest_requests": false, "allow_user_requests": false, "secret_link_expiration": 0 } }, "communities": { "default": "1cbc1580-a34f-40cd-b001-c0cbc1b1083c", "entries": [ { "access": { "member_policy": "open", "members_visibility": "public", "record_submission_policy": "open", "review_policy": "members", "visibility": "public" }, "children": { "allow": false }, "created": "2024-12-07T16:00:25.151710+00:00", "custom_fields": {}, "deletion_status": { "is_deleted": false, "status": "P" }, "id": "1cbc1580-a34f-40cd-b001-c0cbc1b1083c", "links": {}, "metadata": { "description": "Mirror of bronze OA or gold OA papers connected to Italy.", "title": "Italy papers mirror", "type": { "id": "topic" } }, "revision_id": 4, "slug": "it-mirror", "updated": "2024-12-07T16:01:13.249552+00:00" } ], "ids": [ "1cbc1580-a34f-40cd-b001-c0cbc1b1083c" ] }, "id": "14419121", "pids": {} }, "pids": { "doi": { "identifier": "10.1161/circgenetics.111.960674", "provider": "external" }, "oai": { "identifier": "oai:zenodo.org:14419122", "provider": "oai" } }, "revision_id": 5, "stats": { "all_versions": { "data_volume": 92081040.0, "downloads": 48, "unique_downloads": 46, "unique_views": 16, "views": 16 }, "this_version": { "data_volume": 92081040.0, "downloads": 48, "unique_downloads": 46, "unique_views": 16, "views": 16 } }, "status": "published", "swh": {}, "updated": "2024-12-12T15:56:50.702725+00:00", "versions": { "index": 1, "is_latest": true } }