Impaired membrane traffic in defective ether lipid biosynthesis

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...

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Veröffentlicht in:	Human molecular genetics 2001-01, Vol.10 (2), p.127-136
Hauptverfasser:	THAI, Thanh-Phuong, RODEMER, Claus, JAUCH, Anna, HUNZIKER, Andreas, MOSER, Ann, GORGAS, Karin, JUST, Wilheim W
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyltransferases - genetics Acyltransferases - metabolism Alkyl and Aryl Transferases - deficiency Alkyl and Aryl Transferases - genetics Alkyl and Aryl Transferases - metabolism Animals Biological and medical sciences Caveolae - ultrastructure caveolin 3 Cell physiology Cells, Cultured Chromosome Mapping Clathrin-Coated Vesicles - ultrastructure Endocytosis endoplasmic reticulum Endoplasmic Reticulum - ultrastructure ether lipids Female Fibroblasts - metabolism Fibroblasts - ultrastructure Fundamental and applied biological sciences. Psychology Golgi Apparatus - ultrastructure Humans Male Membrane and intracellular transports membrane trafficking Mice Molecular and cellular biology Mutation Peroxisomal Disorders - genetics Peroxisomal Disorders - metabolism Phenotype Phospholipid Ethers - metabolism plasmalogens Plasmalogens - biosynthesis Protein Transport Receptors, Transferrin - metabolism Skin - cytology transferrin receptors
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