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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Lipid Res
Egile Nagusiak: Höflinger, Philip, Hauser, Stefan, Yutuc, Eylan, Hengel, Holger, Griffiths, Lauren, Radelfahr, Florentine, Howell, Owain W., Wang, Yuqin, Connor, Sonja L., Duell, P. Barton, DeBarber, Andrea E., Martus, Peter, Lütjohann, Dieter, Griffiths, William J., Schöls, Ludger
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2021
Gaiak:
Patient-oriented and Epidemiological Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8135047/
https://ncbi.nlm.nih.gov/pubmed/33891937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jlr.2021.100078
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