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| 1 | Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia显示文摘Three members of the angiopoietin-like(ANGPTL) protein family-ANGPTL3, ANGPTL4 and ANGPTL8-are important regulators of plasma lipoproteins. They inhibit the enzyme lipoprotein lipase, which plays a key role in the intravascular lipolysis of triglycerides present in some lipoprotein classes. This review focuses on the role of ANGPTL3 as emerged from the study of genetic variants of Angptl3 gene in mice and humans. Both loss of function genetic variants and inactivation of Angptl3 gene in mice are associated with a marked reduction of plasma levels of triglyceride and cholesterol and an increased activity of lipoprotein lipase and endothelial lipase. In humans with ANGPTL3 deficiency, caused by homozygous loss of function(LOF) variants of Angptl3 gene, the levels of all plasma lipoproteins are greatly reduced. This plasma lipid disorder referred to as familial combined hypolipidemia(FHBL2) does not appear to be associated with distinct pathological manifestations. Heterozygous carriers of LOF variants have reduced plasma levels of total cholesterol and triglycerides and are at lower risk of developing atherosclerotic cardiovascular disease, as compared to non-carriers. These observations have paved the way to the development of strategies to reduce the plasma level of atherogenic lipoproteins in man by the inactivation of ANGPTL3, using either a specific monoclonal antibody or anti-sense oligonucleotides. | Patrizia Tarugi Stefano Bertolini Sebastiano Calandra | 2019 | The Journal of Biomedical Research2019，33，2： | 2 |
| 2 | Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu^2+-mediated oxidation of human low-density liproprotein; effect of normal human plasmaderived chondroitin sulfate 显示文摘 | VOLPI N TARUGI P | 1999 | J Biochem1999，125，： | 1 |
| 3 | The Cteminal Domain of Apolipoprotein in AI is involved in ABCA1 driven Phospho lipid and Cholesterol efflux显示文摘 | Favari E Bernni F Tarugi P | | 0，，05： | 1 |
| 4 | A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease 显示文摘 | Di Leo E Panico F Tarugi P | 2004 | Hum Mutat2004，24，5： | 1 |
| 5 | Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins: effect of normal human plasma-derived chondroitin sulfate显示文摘 | olpi N Tarugi P | 1999 | Journal of biochemistry1999，125，2： | 1 |
| 6 | Niemann-pick type C disease:mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts显示文摘 | Tarugi P G Ballarini B Bembi C | | 0，，11： | 1 |
| 7 | A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia显示文摘 | Angelo B. Cefalù James P. Pirruccello Davide Noto Stacey Gabriel Vincenza Valenti Namrata Gupta Rossella Spina Patrizia Tarugi Sekar Kathiresan Maurizio R. Averna | 2013 | Arteriosclerosis Thrombosis and Vascular Biology2013，，8： | 1 |
| 8 | apoA5 and triglyceride metabolism,lesson from human apoA5 deficiency显示文摘 | Calandra S Oliva CP Tarugi P | 2006 | Curr Opin Lipidol2006，17，2： | 1 |
| 9 | The protective effect on Cu^2+ and AAPH-mediated oxidation of human low-density lipoproreins depends on glycosaminoglycan structure 显示文摘 | Volpi N Tarugi P | 1999 | Biochimie1999，81，10： | 1 |
| 10 | A novel sequence variant in APOA-V gene found in patients with severe hypertriglyceridemia显示文摘 | Priore Oliva C Tarugi P Calandra S | 2006 | Atherosclerosis2006，188，1： | 1 |
| 11 | APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency显示文摘 | Priore Oliva C Tarugi P | 2006 | Curt Opin Lipidol2006，17，2： | 1 |
| 12 | Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu2+-mediated oxidation of human low-density lipo- proteins:effect of normal human plasma derived chondro- itin sulfate显示文摘 | VOLPI N TARUGI P | 1999 | J Biochem1999，125，2： | 1 |
| 13 | Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia显示文摘 | Calandra S Bertolini S Pes GM Deiana L Tarugi P Pisciotta L | 2004 | Semin Vasc Med2004，4，3： | 1 |
| 14 | APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency显示文摘 | Calandra S Priore Oliva C Tarugi P | 2006 | Curr Opin Lipidol2006，17，2： | 1 |
| 15 | APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency显示文摘 | Calandra S Priore 01iva C Tarugi P | 2006 | Curr Opin Lipidol2006，17，2： | 1 |
| 16 | Influence of chondroitin sulfate charge density,sulfate group position,and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins:effect of normal human plasma-derived chondroitin sulfate显示文摘 | Volpi N Tarugi P | 1999 | J Biochem1999，125，2： | 1 |
| 17 | Influence of chondroitin sulfate charge density,sulfate group position,and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins:effect of normal human plasma-derived chondroitin sulfate显示文摘 | Volpi N Tarugi P | | Journal of Biochemistry0，，2： | 1 |
| 18 | A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre- mRNA splicing in Niemann- Pick type C disease显示文摘 | DI LEO E PANICO F TARUGI P | 2004 | Hum Mutat2004，24，5： | 1 |
| 19 | Influence of chondroitin sulfate charge density, sulfate group position, and molecular mass on Cu2+-mediated oxidation of human low-density lipoproteins: effect of normal human plasma-derived chondroitin sulfate 显示文摘 | Volpi N Tarugi P | 1999 | J Biochem1999，125，2： | 1 |
| 20 | Influence of chondroitin sulfate charge density, sulfate group position, and molecularmass on Cu^2+-mediated oxidation of human low-density lipoproteins: effect of normal human plasmaderived chondroitin sulfate显示文摘 | VOLPI N TARUGI P | 1999 | J Biochem1999，125，2： | 1 |
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