Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10801692 | Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | 2016 | 37 Pages |
Abstract
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.
Keywords
acyl-CoA oxidase 2PEDCDCADHCAAMACRIRDPBDacyl-CoA oxidase 1Acox2DCAPHYHFAR1d-bifunctional proteinABCD1ABCD2GNPATBAATCOADBPCATflavin adenine dinucleotideFADH2DHAPLBPACOX1PEX3-ketoacyl-CoA thiolaseAGPsHydrogen peroxideNeonatal adrenoleukodystrophyalanine-glyoxylate aminotransferasealkyl-dihydroxyacetonephosphate synthasePeroxisomal biogenesis disorderChenodeoxycholic aciddocosahexaenoic aciddihydroxycholestanoic acidDicarboxylic acidsCholic acidOxygenFADInfantile Refsum diseaseDHAdihydroxyacetone phosphatedihydroxyacetonephosphate acyltransferaseNALDAGTH2O2PeroxinCatalasecoenzyme A
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Authors
Hans R. Waterham, Sacha Ferdinandusse, Ronald J.A. Wanders,