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  • IJMS | Free Full-Text | Sitosterolemia: Twenty Years of ...

    2021-3-5 · Sitosterolemia is a lipid disorder characterized by the accumulation of dietary xenosterols in plasma and tissues caused by mutations in either ABCG5 or ABCG8. ABCG5 ABCG8 encodes a pair of ABC half transporters that form a heterodimer (G5G8), which then traffics to the surface of hepatocytes and enterocytes and promotes the secretion of …

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  • Plant sterol or stanol consumption does not affect ...

    2006-2-15 · Tatematsu K, Fuma SY, Nagase T, Ichikawa Y, Fujii Y, Okuyama H (2004). Factors other than phytosterols in some vegetable oils affect the survival of SHRSP rats. Food Chem Toxicol 42, 1443–1451.

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  • ATP-Binding Cassette Transporter G5 and G8 …

    2012-5-24 · Lu K, Lee MH, Hazard S, Brooks-Wilson A, Hidaka H, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001; 69:278–290. [PMC free article]

  • Hepatic ABCG5/G8 overexpression reduces apoB …

    We previously reported that liver-specific overexpression of ABCG5/G8 in mice is not atheroprotective, suggesting that increased biliary cholesterol secretion must be coupled with decreased intestinal cholesterol absorption to increase net sterol loss from the body and reduce atherosclerosis. To evaluate this hypothesis, we fed low density lipoprotein receptor-knockout …

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  • Liver transplantation in a patient with sitosterolemia and ...

    2006-2-1 · Lu K, Lee M-H, Hazard S, et al. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001; 69:278–290. [Google Scholar] Lu K, Lee M, Patel SB. Dietary cholesterol absorption: more than just bile.

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  • (PDF) Non-cholesterol sterols and cholesterol metabolism ...

    [81] Plat J, Brzezinka H, Lutjohann D, Mensink RP, von Bergmann K. Oxidized plant sterols in human serum and lipid infusions as measured by combined gas-liquid chromatography-mass spectrometry.

  • A detailed Hapmap of the Sitosterolemia locus spanning …

    2006-2-28 · Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to have evolved by gene duplication event and are arranged in a head-to-head configuration. We report here a …

  • Non-cholesterol sterols and cholesterol metabolism in ...

    2013-12-1 · 1. Introduction. Sitosterolemia (STSL) is a rare autosomal recessive lipid storage disease that is caused by homozygous or compound heterozygous mutations in either one of the two adenosine triphosphate binding cassette transporters genes, ABCG5>/8.These proteins are expressed in both the intestine and liver and form heterodimers that normally function to …

  • Comparison of the hepatic clearances of campesterol ...

    Background: Recently identified ABCG5/8 transporters are responsible in part for the different absorption rates of campesterol, sitosterol, and cholesterol. These transporters are also expressed in the liver and might regulate biliary sterol secretion. Aims: This study was therefore conducted to determine the biliary secretion rates and hepatic clearances of campesterol, …

  • Sterolins ABCG5 and ABCG8: regulators of whole body ...

    2006-1-27 · A compilation of reported mutations and polymorphisms affecting the STSL locus. A cartoon representation of ABCG5 (top A) and ABCG8 (bottom B) is shown, each comprising of 13 exons.The sizes of exons and introns are not to scale. Note that the STSL locus comprises of both genes arranged in a head-to-head orientation, with less than 160 bases separating their …

  • Phytosterols and human lipid metabolism: efficacy, safety ...

    Plant sterols have been known for several decades to cause reductions in plasma cholesterol concentrations. These plant materials have been granted a conditional health claim in the United States regarding their effects in the prevention of cardiovascular disease and are being sold in functional foods in several countries in Europe as well as in the United States and Australia. It …

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  • A mouse model of sitosterolemia: absence of …

    2004-3-24 · Background. Mutations in either of two genes comprising the STSL locus, ATP-binding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and ABCG8 (encoding sterolin-2), result in sitosterolemia, a rare autosomal recessive disorder of sterol trafficking characterized by increased plasma plant sterol levels.Based upon the genetics of sitosterolemia, …

  • (PDF) A detailed Hapmap of the Sitosterolemia locus ...

    Lu K, Lee MH, Yu H, Zhou Y, Sandell SA, Salen G, Patel SB: Molecu- lar cloning, genomi c organization, gene tic va riations, and characterization of …

  • (PDF) Inherited Macrothrombocytopenias

    Sitosterolemia (STSL, 210250) ... the GPIb-IX-V comple x on the plat ele t surfac e and, in combi- ... majorit y of patie nt s have mutat ions i n the typ ically deleted. chromosom al regi on.

  • Liver X receptor β (LXRβ): A link between β-sitosterol and ...

    2008-2-12 · Lu K, et al. Two genes that map to the STSL locus cause sitosterolemia: Genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. Am J Hum Genet. 2001; 69:278–290. [PMC free article] [Google Scholar]

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