Abstract:
: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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Thai TP,Rodemer C,Jauch A,Hunziker A,Moser A,Gorgas K,Just WWdoi
10.1093/hmg/10.2.127subject
Has Abstractpub_date
2001-01-15 00:00:00pages
127-36issue
2eissn
0964-6906issn
1460-2083journal_volume
10pub_type
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