- •A novel mutation Y344S in ANGPTL3 was identified in a family with familial hypobetalipoproteinemia.
- •Mutations in ANGPTL3 gene may have the phenotypic heterogeneity.
- •Loss-of-function in ANGPTL3 may become a vascular protective factor.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Familial hypobetalipoproteinemia: genetics and metabolism.Cell. Mol. Life Sci. 2005; 62: 1372-1378
- Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.J. Lipid Res. 2003; 44: 470-478
- Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.Nat. Genet. 2005; 37: 161-165
- Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.J. Lipid Res. 1999; 40: 955-959
- Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.N. Engl. J. Med. 2010; 363: 2220-2227
- Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.Circ. Cardiovasc. Genet. 2012; 5: 42-50
- Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.Arterioscler. Thromb. Vasc. Biol. 2012; 32: 805-809
- Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.Clin. Chim. Acta. 2012; 413: 552-555
- Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.J. Clin. Endocrinol. Metab. 2012; 97: E1266-E1275
- Impacts of angiopoietin-like proteins on lipoprotein metabolism and cardiovascular events.Curr. Opin. Lipidol. 2010; 21: 70-75
- ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase.J. Biol. Chem. 2002; 277: 33742-33748
- Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase.Arterioscler. Thromb. Vasc. Biol. 2007; 27: 366-372
- In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene.Arterioscler. Thromb. Vasc. Biol. 2000; 20: 1309-1315
- Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.Atherosclerosis. 2008; 196: 29-36
- Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene.J. Lipid Res. 2001; 42: 1552-1561
- Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.J. Lipid Res. 1990; 31: 545-548
- Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.J. Clin. Invest. 2009; 119: 70-79
- Genetics: a gene of rare effect.Nature. 2013; 496: 152-155
- ANGPTL3 is increased in both insulin-deficient and -resistant diabetic states.Biochem. Biophys. Res. Commun. 2004; 317: 1075-1079