Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol.

BMC medicine - 24 Mar 2004

Klett Eric L, Lu Kangmo, Kosters Astrid, Vink Edwin, Lee Mi-Hye, Altenburg Michael, Shefer Sarah, Batta Ashok K, Yu Hongwei, Chen Jianliang, Klein Richard, Looije Norbert, Oude-Elferink Ronald, Groen Albert K, Maeda Nobuyo, Salen Gerald, Patel Shailendra B

Abstract excerpt

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, ABCG5/sterolin-1 and ABCG8/sterolin-2 are hypothesized to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
Share to ATP Binding Cassette Transporter, Subfamily G, Member 8

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Bile Acids and Salts

Share to Intestines

Share to Lipoproteins

Share to Models, Animal

Share to Phytosterols

Source

Open in PubMed Open full text

Identifiers

PMID: 15040800
DOI: 10.1186/1741-7015-2-5
PMCID: PMC394351

Genes

ABCG5
ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol.PMID 15040800Read ↗

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.Semantic proximity Read ↗

Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient miceSemantic proximity Read ↗

Sitosterolemia in ABC-transporter G5-deficient mice is aggravated on activation of the liver-X receptor.Semantic proximity Read ↗

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterolsSemantic proximity Read ↗

Relative roles of ABCG5/ABCG8 in liver and intestine.Semantic proximity Read ↗

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.Semantic proximity Read ↗

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.Semantic proximity Read ↗

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosisSemantic proximity Read ↗

Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.Semantic proximity Read ↗

Genetic basis of sitosterolemia.Semantic proximity Read ↗

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.Semantic proximity Read ↗

Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.