caa a22 4500 475786912 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014410 doi (NATIONALLICENCE)springer-10.1007/PL00014410 Gärtner Jutta Department of Paediatrics, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany e-mail: gaertnj@uni-duesseldorf.de Tel.: +49-211-81-16184; Fax: +49-211-81-18757, DE aut Organelle disease: peroxisomal disorders [Elektronische Daten] [Jutta Gärtner] Peroxisomes are virtually ubiquitous organelles involved in numerous catabolic and anabolic pathways. Interest in peroxisomes stems from an expanding group of genetic diseases in which there is either deficiency of a specific peroxisomal function (single protein defects) or failure to assemble the organelle resulting in defects of multiple peroxisome functions (peroxisome biogenesis disorders). The paradigm for the former is X-linked adrenoleukodystrophy caused by mutations in the adrenoleukodystrophy gene and, for the latter, Zellweger syndrome caused by mutations in peroxin genes. Conclusion The identification and functional characterisation of the peroxisomal disease genes is proceeding at rapid pace helped immeasurably by work in various yeast model systems. The ultimate goal is to elucidate how the encoded proteins produce normal appearing and functioning peroxisomes. The achievement of this goal will lead to a better understanding of peroxisomal disorders, their pathogenesis and treatment. Springer-Verlag Berlin Heidelberg, 2000 Key words Peroxisome nationallicence Peroxisome biogenesis disorders nationallicence X-linked adrenoleukodystrophy nationallicence https://doi.org/10.1007/PL00014410 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014410 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Gärtner Jutta Department of Paediatrics, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany e-mail: gaertnj@uni-duesseldorf.de Tel.: +49-211-81-16184; Fax: +49-211-81-18757, DE aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer