title: Impaired membrane traffic in defective ether lipid biosynthesis.
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.
authors.affiliation: Biochemie-Zentrum Heidelberg (BZH), Universität Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany.
authors.forename: T P
authors.initials: TP
authors.lastname: Thai
authors.forename: C
authors.initials: C
authors.lastname: Rodemer
authors.forename: A
authors.initials: A
authors.lastname: Jauch
authors.forename: A
authors.initials: A
authors.lastname: Hunziker
authors.forename: A
authors.initials: A
authors.lastname: Moser
authors.forename: K
authors.initials: K
authors.lastname: Gorgas
authors.forename: W W
authors.initials: WW
authors.lastname: Just
mesh_terms: D000217:Acyltransferases / Q000235:genetics* / Q000378:metabolism; D019883:Alkyl and Aryl Transferases / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D021941:Caveolae / Q000648:ultrastructure; D002478:Cells, Cultured; D002874:Chromosome Mapping; D022163:Clathrin-Coated Vesicles / Q000648:ultrastructure; D004705:Endocytosis; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006056:Golgi Apparatus / Q000648:ultrastructure; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D010742:Phospholipid Ethers / Q000378:metabolism*; D010955:Plasmalogens / Q000096:biosynthesis; D021381:Protein Transport; D011990:Receptors, Transferrin / Q000378:metabolism; D012867:Skin / Q000166:cytology
chemical_list: D010742:Phospholipid Ethers; D010955:Plasmalogens; D011990:Receptors, Transferrin; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase; D019883:Alkyl and Aryl Transferases; C019654:alkylglycerone-phosphate synthase