期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
卷 1863, 期 5, 页码 922-933出版社
ELSEVIER
DOI: 10.1016/j.bbamcr.2015.11.015
关键词
Peroxisomes; Zellweger spectrum disorders; Biogenesis; Enzyme deficiencies; PEX genes; Metabolism
资金
- Hersenstichting [F 2012(1)-102]
- Marie Curie Initial Training Networks action [FP7-2012-PERFUME-316723]
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. (C) 2015 Elsevier B.V. All rights reserved.
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