GPIHBP1: a new chylomicronemia gene-Reference-Cited by-同舟云学术

GPIHBP1: a new chylomicronemia gene

Published:2008-04-01 Issue:2 Volume:3 Page:203-216
ISSN:1746-0875
Container-title:Future Lipidology
language:en
Short-container-title:Future Lipidology

Author:

Beigneux Anne¹,Gin Peter¹,Davies Brandon¹,Yin Liya¹,Weinstein Michael²,Bensadoun André³,Fong Loren¹,Young Stephen⁴

Affiliation:

1. Department of Medicine, Division of Cardiology, David Geffen School of Medicine, University of California, 695 Charles E Young Dr.South, Los Angeles, USA, CA 90095, Tel.: , Fax: ,

2. Department of Human Genetics, David Geffen School of Medicine, University of California, 695 Charles E Young Dr.South, Los Angeles, USA, CA 90095, Tel.: , Fax: ,

3. Cornell University, Division of Nutritional Science, Ithaca, 695 Charles E Young Dr.South, Los Angeles, USA, NY, Tel.: , Fax: ,

4. Department of Human Genetics & Division of Cardiology, David Geffen School of Medicine, University of California, 695 Charles E Young Dr.South, Los Angeles, USA, CA 90095, Tel.: , Fax: ,

Publisher

Informa UK Limited

Subject

Biochemistry

Link

https://www.tandfonline.com/doi/pdf/10.2217/17460875.3.2.203

Reference88 articles.

1. Beigneux A, Davies B, Gin P et al.: Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. Cell Metab. 5, 279–291 (2007).

2. Shows that mice lacking GPIHBP1 have chylomicronemia. Article also demonstrates that GPIHBP1 is located along the luminal surface of capillaries, and that this molecule binds lipoprotein lipase and chylomicrons.

3. Wang J, Hegele RA: Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650). Lipids Health Dis. 6, 23 (2007).

4. Genomic DNA of 160 patients with chylomicronemia were screened (and more than 1200 control subjects) for coding-region mutations in GPIHBP1. One subject with chylomicronemia who was homozgygous for a G56R mutation in GPIHBP1 was identified. A sibling with chylomicronemia was also homozygous for the same mutation.

5. Havel RJ, Gordon RS Jr: Idiopathic hyperlipemia: metabolic studies in an affected family. J. Clin. Invest. 39, 1777–1790 (1960)

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