作者
Hans R Waterham, Sacha Ferdinandusse, Ronald JA Wanders
发表日期
2016/5/1
来源
Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research
卷号
1863
期号
5
页码范围
922-933
出版商
Elsevier
简介
Peroxisomes are dynamic organelles that play an essential role in a variety of cellular catabolic and anabolic metabolic pathways, including fatty acid alpha- and beta-oxidation, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known. This article is part of a Special Issue entitled: Peroxisomes edited by Ralf Erdmann.
学术搜索中的文章
HR Waterham, S Ferdinandusse, RJA Wanders - Biochimica Et Biophysica Acta (BBA)-Molecular Cell …, 2016