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Items: 1 to 20 of 137

1.

Deletion of GPIHBP1 causing severe chylomicronemia.

Rios JJ, Shastry S, Jasso J, Hauser N, Garg A, Bensadoun A, Cohen JC, Hobbs HH.

J Inherit Metab Dis. 2012 May;35(3):531-40. doi: 10.1007/s10545-011-9406-5. Epub 2011 Oct 19.

2.

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG.

Arterioscler Thromb Vasc Biol. 2009 Jun;29(6):956-62. doi: 10.1161/ATVBAHA.109.186577. Epub 2009 Mar 19.

3.

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

Franssen R, Young SG, Peelman F, Hertecant J, Sierts JA, Schimmel AW, Bensadoun A, Kastelein JJ, Fong LG, Dallinga-Thie GM, Beigneux AP.

Circ Cardiovasc Genet. 2010 Apr;3(2):169-78. doi: 10.1161/CIRCGENETICS.109.908905. Epub 2010 Feb 2.

4.

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Buonuomo PS, Bartuli A, Rabacchi C, Bertolini S, Calandra S.

J Clin Lipidol. 2015 Mar-Apr;9(2):265-70. doi: 10.1016/j.jacl.2014.10.003. Epub 2014 Oct 13.

PMID:
25911085
5.

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

Charrière S, Peretti N, Bernard S, Di Filippo M, Sassolas A, Merlin M, Delay M, Debard C, Lefai E, Lachaux A, Moulin P, Marçais C.

J Clin Endocrinol Metab. 2011 Oct;96(10):E1675-9. doi: 10.1210/jc.2011-1444. Epub 2011 Aug 3.

PMID:
21816778
6.

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 and the intravascular processing of triglyceride-rich lipoproteins.

Adeyo O, Goulbourne CN, Bensadoun A, Beigneux AP, Fong LG, Young SG.

J Intern Med. 2012 Dec;272(6):528-40. doi: 10.1111/joim.12003. Epub 2012 Nov 1. Review.

7.

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

Olivecrona G, Ehrenborg E, Semb H, Makoveichuk E, Lindberg A, Hayden MR, Gin P, Davies BS, Weinstein MM, Fong LG, Beigneux AP, Young SG, Olivecrona T, Hernell O.

J Lipid Res. 2010 Jun;51(6):1535-45. doi: 10.1194/jlr.M002717. Epub 2009 Dec 21.

8.

Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.

Beigneux AP, Miyashita K, Ploug M, Blom DJ, Ai M, Linton MF, Khovidhunkit W, Dufour R, Garg A, McMahon MA, Pullinger CR, Sandoval NP, Hu X, Allan CM, Larsson M, Machida T, Murakami M, Reue K, Tontonoz P, Goldberg IJ, Moulin P, Charrière S, Fong LG, Nakajima K, Young SG.

N Engl J Med. 2017 Apr 27;376(17):1647-1658. doi: 10.1056/NEJMoa1611930. Epub 2017 Apr 5.

10.

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP, Fong LG, Bensadoun A, Davies BS, Oberer M, Gårdsvoll H, Ploug M, Young SG.

Circ Res. 2015 Feb 13;116(4):624-32. doi: 10.1161/CIRCRESAHA.116.305085. Epub 2014 Nov 11.

11.

Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

Gin P, Goulbourne CN, Adeyo O, Beigneux AP, Davies BS, Tat S, Voss CV, Bensadoun A, Fong LG, Young SG.

Hum Mol Genet. 2012 Jul 1;21(13):2961-72. doi: 10.1093/hmg/dds127. Epub 2012 Apr 6.

12.

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1.

Voss CV, Davies BS, Tat S, Gin P, Fong LG, Pelletier C, Mottler CD, Bensadoun A, Beigneux AP, Young SG.

Proc Natl Acad Sci U S A. 2011 May 10;108(19):7980-4. doi: 10.1073/pnas.1100992108. Epub 2011 Apr 25.

13.

GPIHBP1, an endothelial cell transporter for lipoprotein lipase.

Young SG, Davies BS, Voss CV, Gin P, Weinstein MM, Tontonoz P, Reue K, Bensadoun A, Fong LG, Beigneux AP.

J Lipid Res. 2011 Nov;52(11):1869-84. doi: 10.1194/jlr.R018689. Epub 2011 Aug 15. Review.

14.

Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

Yamamoto H, Onishi M, Miyamoto N, Oki R, Ueda H, Ishigami M, Hiraoka H, Matsuzawa Y, Kihara S.

J Atheroscler Thromb. 2013;20(10):777-84. Epub 2013 Jul 8.

15.

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

Rabacchi C, D'Addato S, Palmisano S, Lucchi T, Bertolini S, Calandra S, Tarugi P.

J Clin Lipidol. 2016 Jul-Aug;10(4):915-921.e4. doi: 10.1016/j.jacl.2016.03.009. Epub 2016 Mar 23.

PMID:
27578123
16.

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

Ariza MJ, Martínez-Hernández PL, Ibarretxe D, Rabacchi C, Rioja J, Grande-Aragón C, Plana N, Tarugi P, Olivecrona G, Calandra S, Valdivielso P.

J Clin Lipidol. 2016 Jan-Feb;10(1):92-100.e1. doi: 10.1016/j.jacl.2015.09.007. Epub 2015 Sep 25.

PMID:
26892125
17.

Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.

Okubo M, Toromanovic A, Ebara T, Murase T.

Clin Chim Acta. 2015 Jan 1;438:148-53. doi: 10.1016/j.cca.2014.08.022. Epub 2014 Aug 27.

PMID:
25172036
18.

Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression.

Vaziri ND, Yuan J, Ni Z, Nicholas SB, Norris KC.

Clin Exp Nephrol. 2012 Apr;16(2):238-43. doi: 10.1007/s10157-011-0549-3. Epub 2011 Oct 19.

19.

Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.

Plengpanich W, Young SG, Khovidhunkit W, Bensadoun A, Karnman H, Ploug M, Gårdsvoll H, Leung CS, Adeyo O, Larsson M, Muanpetch S, Charoen S, Fong LG, Niramitmahapanya S, Beigneux AP.

J Biol Chem. 2014 Jul 11;289(28):19491-9. doi: 10.1074/jbc.M114.558528. Epub 2014 May 20.

20.

The acidic domain of GPIHBP1 is important for the binding of lipoprotein lipase and chylomicrons.

Gin P, Yin L, Davies BS, Weinstein MM, Ryan RO, Bensadoun A, Fong LG, Young SG, Beigneux AP.

J Biol Chem. 2008 Oct 24;283(43):29554-62. doi: 10.1074/jbc.M802579200. Epub 2008 Aug 18.

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