On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. Mice with the same defect do not develop xanthomas. The driving force in the development of the xanthomas is likely...

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Detalhes bibliográficos
Main Authors: Båvner, Ann, Shafaati, Marjan, Hansson, Magnus, Olin, Maria, Shpitzen, Shoshi, Meiner, Vardiella, Leitersdorf, Eran, Björkhem, Ingemar
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2918454/
https://ncbi.nlm.nih.gov/pubmed/20511491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M008326
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