[Introduction to the study of peroxisomal disorders].
The peroxisome is an organelle found in all nucleated cells of mammalian. Its name is due to H2O2 formation as result of cell respiration catalyzed by oxidases and catalases and play and important role on myelination and neuronal migration. Peroxisomes are formed by assembling of membrane proteins (structural, receptors and transporters) into peroxisomal membrane. Peroxisomal proteins are encoded by nuclear genes, synthesized on cytosol ribosomes and imported into peroxisomal matrix, mediated by receptors and transporters membrane proteins. There are two main categories of peroxisomal disorders: disorder of peroxisome biogenesis exemplified by Zellweger syndrome, where multiple peroxisomal protein, functions are deficient and disorders which involves a single peroxisomal protein, exemplified by X-adrenoleukodystrophy, where the organelle is apparently intact.
López-Terradas
J M
JM
Sección de Neurología, Hospital del Niño Jesús, Madrid, España. jlopezt@meditex.es
D001692:Biological Transport / Q000502:physiology; D002352:Carrier Proteins / Q000378:metabolism; D002462:Cell Membrane / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism; D018901:Peroxisomal Disorders / Q000235:genetics / Q000378:metabolism*
D002352:Carrier Proteins; D008565:Membrane Proteins