Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to identify metabolic aberrations that drive ong...

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Bibliographic Details
Main Authors: Philip Höflinger, Stefan Hauser, Eylan Yutuc, Holger Hengel, Lauren Griffiths, Florentine Radelfahr, Owain W. Howell, Yuqin Wang, Sonja L. Connor, P. Barton Duell, Andrea E. DeBarber, Peter Martus, Dieter Lütjohann, William J. Griffiths, Ludger Schöls
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Journal of Lipid Research
Subjects:
bile acid metabolism
cholesterol metabolism
cytochrome P450
lipodystrophies
oxysterols, cerebrotendinous xanthomathosis
inborn errors of metabolism
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227521000602

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http://www.sciencedirect.com/science/article/pii/S0022227521000602

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