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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Detalhes bibliográficos
Main Authors: Schüle, Rebecca, Siddique, Teepu, Deng, Han-Xiang, Yang, Yi, Donkervoort, Sandra, Hansson, Magnus, Madrid, Ricardo E., Siddique, Nailah, Schöls, Ludger, Björkhem, Ingemar
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2842155/
https://ncbi.nlm.nih.gov/pubmed/19812052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M002543
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