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

doi:10.1074/jbc.M113.500256

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 journal › Article › peer-review

10 Scopus citations

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 language	English (US)
Pages (from-to)	36936-36947
Number of pages	12
Journal	Journal of Biological Chemistry
Volume	288
Issue number	52
DOIs	https://doi.org/10.1074/jbc.M113.500256
State	Published - Dec 27 2013

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Cell Biology

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10.1074/jbc.M113.500256

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title = "Characterization of cholesterol homeostasis in telomeraseimmortalized tangier disease fibroblasts reveals marked phenotype variability",

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.",

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AU - Kannenberg, Frank

AU - Gorzelniak, Kerstin

AU - Jäger, Kathrin

AU - Fobker, Manfred

AU - Rust, Stephan

AU - Repa, Joyce

AU - Roth, Mike

AU - Björkhem, Ingemar

AU - Walter, Michael

PY - 2013/12/27

Y1 - 2013/12/27

N2 - 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.

AB - 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.

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JO - Journal of Biological Chemistry

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ER -

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

Abstract

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