Characterization of Cholesterol Homeostasis in Telomerase-immortalized Tangier Disease Fibroblasts Reveals Marked Phenotype Variability

We compared the consequences of an ABCA1 mutation that produced an apparent lack of atherosclerosis (Tangier family 1, N935S) with an ABCA1 mutation with functional ABCA1 knockout that was associated with severe atherosclerosis (Tangier family 2, Leu(548):Leu(575)-End), using primary and telomerase-...

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Autors principals: Kannenberg, Frank, Gorzelniak, Kerstin, Jäger, Kathrin, Fobker, Manfred, Rust, Stephan, Repa, Joyce, Roth, Mike, Björkhem, Ingemar, Walter, Michael
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2013
Matèries:
Lipids
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873552/
https://ncbi.nlm.nih.gov/pubmed/24196952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M113.500256
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