TY - JOUR
T1 - Impaired membrane traffic in defective ether lipid biosynthesis
AU - Thai, Thanh Phuong
AU - Rodemer, Claus
AU - Jauch, Anna
AU - Hunziker, Andreas
AU - Moser, Ann
AU - Gorgas, Karin
AU - Just, Wilhelm W.
PY - 2001/1/15
Y1 - 2001/1/15
N2 - 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.
AB - 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.
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U2 - 10.1093/hmg/10.2.127
DO - 10.1093/hmg/10.2.127
M3 - Article
C2 - 11152660
AN - SCOPUS:0035862814
SN - 0964-6906
VL - 10
SP - 127
EP - 136
JO - Human molecular genetics
JF - Human molecular genetics
IS - 2
ER -