Article ID Journal Published Year Pages File Type
10801692 Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2016 37 Pages PDF
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.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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