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Article

Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects.

Journal of medical genetics - 1 Apr 2002

Muller P Y, Miserez A R

Abstract excerpt

Human cells maintain their cholesterol homeostasis by regulated cleavage of membrane bound transcription factors, so-called sterol regulatory element binding proteins (SREBPs). If cells are deprived of cholesterol, SREBPs are cleaved by two proteolytic steps. The NH2-terminal domain of the SREBPs is released from the membranes of the endoplasmic reticulum and transported into the nucleus, where it binds to...

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Identifiers

PMID: 11950857
DOI: 10.1136/jmg.39.4.271
PMCID: PMC1735089

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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.

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Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects.PMID 11950857Read ↗

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