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Gene de susceptibilite a la sitosterolemie (ssg): compositions et methodes d'utilisation

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TLDR
The authors concerne des acides nucleiques codant un nouveau transporteur de cholesterol de la famille ABC, le SSG, and les sequences peuvent etre utilisees a des fin tres variees, y compris pour le diagnostic and le traitement de troubles lies au cholesterol, comprenant la sitosterolemie, ainsi que pour l'identification de molecules associees a l'activite de SSG and/ou la modulant.
Abstract
L'invention concerne des acides nucleiques codant un nouveau transporteur de cholesterol de la famille ABC, le SSG. Selon l'invention, les sequences peuvent etre utilisees a des fins tres variees, y compris pour le diagnostic et le traitement de troubles lies au cholesterol, comprenant la sitosterolemie, ainsi que pour l'identification de molecules associees a l'activite de SSG et/ou la modulant.

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References
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Journal ArticleDOI

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption

TL;DR: A new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients and is reported to have a subtle mechanism that allows the body to distinguish between cholesterol and non-cholesterol sterols.
Journal ArticleDOI

ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport

TL;DR: It is reported here that the ATP-binding cassette (ABC) transporter ABCG1 (ABC8) is induced in monocyte-derived macrophages during cholesterol influx mediated by acetylated low-density lipoprotein, defining a biologic activity for ABC transporters in Macrophages.
Journal ArticleDOI

Sequence analysis of a 33.2 kb segment from the left arm of yeast chromosome XV reveals eight known genes and ten new open reading frames including homologues of ABC transporters, inositol phosphatases and human expressed sequence tags.

TL;DR: Computer analysis of the complete nucleotide sequence of a 33 221 bp segment derived from the left arm of chromosome XV of Saccharomyces cerevisiae revealed the presence of the previously known genes IRA2, DEC1, NUF2, HST1, RTG1, RIB2 and HAL2, one previously partially sequenced open reading frame (ORF) of unknown function (SCORFAC) and ten newly identified ORFs.