Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum

Cytochrome P450 27A1 (CYP27A1 or sterol 27-hydroxylase) is a ubiquitous, multifunctional enzyme catalyzing regio- and stereospecific hydroxylation of different sterols. In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferenti...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Biol Chem
Päätekijät: Mast, Natalia, Anderson, Kyle W., Lin, Joseph B., Li, Yong, Turko, Illarion V., Tatsuoka, Curtis, Bjorkhem, Ingemar, Pikuleva, Irina A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Biochemistry and Molecular Biology 2017
Aiheet:
Lipids
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5377805/
https://ncbi.nlm.nih.gov/pubmed/28190002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.774760
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