Characterization of cholesterol homeostasis in telomeraseimmortalized tangier disease fibroblasts reveals marked phenotype variability

Frank Kannenberg, Kerstin Gorzelniak, Kathrin Jäger, Manfred Fobker, Stephan Rust, Joyce Repa, Mike Roth, Ingemar Björkhem, Michael Walter

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background: The reason for the variability in degree of atherosclerosis in Tangier disease remains poorly understood. Results: Tangier fibroblasts with different molecular defects display marked phenotypic variability. Conclusion: Complete ABCA1 deficiency is associated with various potentially atherogenic effects and is compensated for by marked oxysterol-mediated down-regulation of cholesterol biosynthesis. Significance: Elucidation of the link between the degree of ABCA1 deficiency and the in vivo phenotype.

Original languageEnglish (US)
Pages (from-to)36936-36947
Number of pages12
JournalJournal of Biological Chemistry
Volume288
Issue number52
DOIs
StatePublished - Dec 27 2013

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Tangier Disease
Biosynthesis
Fibroblasts
Atherosclerosis
Homeostasis
Down-Regulation
Cholesterol
Phenotype
Defects
Oxysterols

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

Characterization of cholesterol homeostasis in telomeraseimmortalized tangier disease fibroblasts reveals marked phenotype variability. / Kannenberg, Frank; Gorzelniak, Kerstin; Jäger, Kathrin; Fobker, Manfred; Rust, Stephan; Repa, Joyce; Roth, Mike; Björkhem, Ingemar; Walter, Michael.

In: Journal of Biological Chemistry, Vol. 288, No. 52, 27.12.2013, p. 36936-36947.

Research output: Contribution to journalArticle

Kannenberg, Frank ; Gorzelniak, Kerstin ; Jäger, Kathrin ; Fobker, Manfred ; Rust, Stephan ; Repa, Joyce ; Roth, Mike ; Björkhem, Ingemar ; Walter, Michael. / Characterization of cholesterol homeostasis in telomeraseimmortalized tangier disease fibroblasts reveals marked phenotype variability. In: Journal of Biological Chemistry. 2013 ; Vol. 288, No. 52. pp. 36936-36947.
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