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Human Molecular Genetics, 2001, Vol. 10, No. 2 127-136
© 2001 Oxford University Press

Impaired membrane traffic in defective ether lipid biosynthesis

Thanh-Phuong Thai1, Claus Rodemer1, Anna Jauch2, Andreas Hunziker3, Ann Moser4, Karin Gorgas5 and Wilhelm W. Just1,+

1Biochemie-Zentrum Heidelberg (BZH), Universität Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany, 2Institut für Humangenetik and 5Institut für Anatomie und Zellbiologie der Universität Heidelberg, Germany, 3Abteilung Zellbiologie, Deutsches Krebsforschungszentrum, Germany and 4Kennedy-Krieger Institute, Johns Hopkins University, Baltimore, MD, USA

The first steps of ether lipid biosynthesis are exclusively localized to peroxisomes and hence some peroxisomal disorders are characterized by a severe deficiency of plasmalogens, the main ether lipids in humans. Here we report on gene defects of plasmalogen biosynthesis, chromosomal localization of the corresponding genes and, as a consequence of plasmalogen deficiency, on structural alterations of caveolae, clathrin-coated pits, endoplasmic reticulum and Golgi cisternae, as well as on the reduced rate of transferrin receptor cycling. The data suggest that plasmalogens, analogous to cholesterol, are essential for correct membrane functioning and their deficiency results in impaired membrane trafficking.

+ To whom correspondence should be addressed. Tel: +49 6221 544151; Fax: +49 6221 544366; Email: cl4@ix.urz.uni-heidelberg.de


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