文章基本信息

标题：Bile acids: the role of peroxisomes
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作者：Sacha Ferdinandusse ; Simone Denis ; Phyllis L. Faust 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：2009
卷号：50
期号：11
页码：2139-2147
DOI：10.1194/jlr.R900009-JLR200
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：It is well established that peroxisomes play a crucial role in de novo bile acid synthesis. Studies in patients with a peroxisomal disorder have been indispensable for the elucidation of the precise role of peroxisomes. Several peroxisomal disorders are associated with distinct bile acid abnormalities and each disorder has a characteristic pattern of abnormal bile acids that accumulate, which is often used for diagnostic purposes. The patients have also been important for determining the pathophysiological consequences of defects in bile acid biosynthesis. In this review, we will discuss all the peroxisomal steps involved in bile acid synthesis and the bile acid abnormalities in patients with peroxisomal disorders. We will show the results of bile acid measurements in several tissues from patients, including brain, and we will discuss the toxicity and the pathological effects of the abnormal bile acids.
关键词：dihydroxycholestanoic acid ; trihydroxy-cholestanoic acid ; peroxisome deficiency disorders ; D-bifunctional protein deficiency ; α-methylacyl-CoA racemase deficiency