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Article

Identification of a gene variant in the master regulator of lipid metabolism SREBP-1 in a family with a novel form of severe combined hypolipidemia.

Atherosclerosis - 1 Sept 2011

Kotzka Jorg, Knebel Birgit, Janssen Onno E, Schaefer J R, Soufi M, Jacob Sylvia, Nitzgen Ulrike, Muller-Wieland Dirk

Abstract excerpt

OBJECTIVE: Alterations of lipid metabolism play a pivotal role in the development of atherosclerosis and its complications, today's major mortality risks. The predominant regulators controlling cholesterol- and fatty acids synthesis in liver are the sterol regulatory element-binding proteins (SREBPs), a family of transcription factors that were formerly identified as cholesterol sensor for LDLR gene expression....

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Identifiers

PMID: 21645898
DOI: 10.1016/j.atherosclerosis.2011.05.008

Genes

LDLR
ABCA1
FAS
MTTP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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