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The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Characterization of Three Kindreds With Familial Combined Hypolipidemia Caused by Loss-of-Function Mutations of ANGPTL3

Pisciotta, Livia, Favari, Elda, Magnolo, Lucia, Simonelli, Sara, Adorni, Maria Pia, Sallo, Raffaella, Fancello, Tatiana, Zavaroni, Ivana, Ardigò, Diego, Bernini, Franco, Calabresi, Laura, Franceschini, Guido, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano·2012·Circulation: Cardiovascular Genetics
DOI 10.1161/circgenetics.111.960674
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Abstract

Background—: Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases. Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3 , 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 ANGPTL3 loss-of-function mutations. Methods and Results—: We resequenced ANGPTL3 in 4 members of 3 kindreds originally identified for very low levels of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol (0.97±0.16 and 0.56±0.20 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 ANGPTL3 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-β–high-density lipoprotein. In addition, their apolipoprotein B–depleted sera had a reduced capacity to promote cell cholesterol efflux through the various pathways (ABCA1-, SR-BI–, and ABCG1-mediated efflux); however, these subjects had no clinical evidence of accelerated atherosclerosis. Heterozygous carriers of the ANGPTL3 mutations had low plasma ANGPTL3 and moderately reduced low-density lipoprotein cholesterol (2.52±0.38 mmol/L) but normal plasma high-density lipoprotein cholesterol. Conclusions—: Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia characterized by a reduction of apolipoprotein B and apolipoprotein A-I–containing 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.

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Crossref · 10.1161/circgenetics.111.960674

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  • An Italian town known for longevity was found to have an unusually large number of individuals with the S17X loss-of-function ANGPTL3 mutation.

    “In fact, an Italian town known for the longevity of its residents was found to have an unusually large number of individuals with the S17X loss-of-function ANGPTL3 mutation (108, 118, 173).”

    From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [118]

    The Study Participants section describes three Italian kindreds, while the Discussion mentions S17X only in describing carriers reported by another study. Neither passage identifies a town known for longevity or reports an unusually large number of S17X carriers there. Searches for the town, longevity, and S17X did not find that observation in our copy. (LLM, conf=0.76)

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  • Mice and humans lacking ANGPTL3 have lower plasma cholesterol levels.

    “In addition to decreased plasma triglycerides, mice and humans lacking ANGPTL3 also have lower plasma cholesterol levels (16, 18, 106, 108, 109, 116–118).”

    From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [118]

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Research works printed but not linked: 39

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Metadata

Authors
Pisciotta, L., Favari, E., Magnolo, L., Simonelli, S., Adorni, M. P., Sallo, R., Fancello, T., Zavaroni, I., Ardigò, D., Bernini, F., Calabresi, L., Franceschini, G., Tarugi, P., Calandra, S., & Bertolini, S.
Affiliations
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...
Venue
Circulation: Cardiovascular Genetics
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2012-02
Volume
5
Issue
1
Pages
42-50
ISSN
  • 1942-325X
  • 1942-3268
DOI
10.1161/circgenetics.111.960674
Cited by
120
References
3
Language
en

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