Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

Patients with a recessively inherited “pure” hereditary spastic paresis (SPG5) have mutations in the gene coding for the oxysterol 7 α hydroxylase (CYP7B1). One of the expected metabolic consequences of such mutations is accumulation of oxysterol substrates due to decreased enzyme activity. In accor...

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Bibliographic Details
Main Authors: Rebecca Schüle, Teepu Siddique, Han-Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, Ricardo E. Madrid, Nailah Siddique, Ludger Schöls, Ingemar Björkhem
Format: Article
Language:English
Published: Elsevier 2010-04-01
Series:Journal of Lipid Research
Subjects:
oxysterol
27-hydroxycholesterol
25-hydroxycholesterol
CYP27A1
neurodegeneration
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520304910

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http://www.sciencedirect.com/science/article/pii/S0022227520304910

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