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3篇 您的检索式：作者名="Sebastiano Calandra"

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		题名	作者	年代	出处	被引量
	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	Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease显示文摘	Tommaso Fasano Livia Pisciotta Letizia Bocchi Ornella Guardamagna Paola Assandro Claudio Rabacchi Paolo Zanoni Mirella Filocamo Stefano Bertolini Sebastiano Calandra	2011	Molecular Genetics and Metabolism2011，，3：	1
	3	Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis显示文摘	Marcello Arca Giovanni Zuliani Kenneth Wilund Filomena Campagna Renato Fellin Stefano Bertolini Sebastiano Calandra Giorgio Ricci Nicola Glorioso Mario Maioli Paolo Pintus Ciriaco Carru Fausto Cossu Jonathan Cohen Helen H Hobbs	2002	The Lancet . 2002 (9309)2002，，：	1

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