Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins | Zendy

Sergio Fazio | Zendy; Jessica Minnier | Zendy; Michael D. Shapiro | Zendy; Sotirios Tsimikas | Zendy; Patrizia Tarugi | Zendy; Maurizio Averna | Zendy; Marcello Arca | Zendy; Hagai Tavori | Zendy

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Threshold Effects of Circulating Angiopoietin-Like 3 Levels on Plasma Lipoproteins

Author(s) -

Sergio Fazio,

Jessica Minnier,

Michael D. Shapiro,

Sotirios Tsimikas,

Patrizia Tarugi,

Maurizio Averna,

Marcello Arca,

Hagai Tavori

Publication year - 2017

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-4043

Subject(s) - endocrinology , medicine , kexin , apolipoprotein b , pcsk9 , lipoprotein , proprotein convertase , furin , chemistry , ldl receptor , low density lipoprotein , cholesterol , familial hypercholesterolemia , biology , biochemistry , enzyme

Angiopoietin-like 3 (ANGPTL3) deficiency in plasma due to loss-of-function gene mutations results in familial combined hypobetalipoproteinemia type 2 (FHBL2) in homozygotes. However, the lipid phenotype in heterozygotes is much milder and does not appear to relate directly to ANGPTL3 levels. Furthermore, the low-density lipoprotein (LDL) phenotype in carriers of ANGPTL3 mutations is unexplained.

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