Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation
SourceAmerican Journal of Medical Genetics Part C : Seminars in Medical Genetics, 160C, 4, (2012), pp. 322-8
Article / Letter to editor
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Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
American Journal of Medical Genetics Part C : Seminars in Medical Genetics
SubjectIGMD 4: Glycostation disorders
Dolichols, polyisoprene alcohols derived from the mevalonate pathway of cholesterol synthesis, serve as carriers of glycan precursors for the formation of oligosaccharides important in protein glycosylation. Seven autosomal-recessively inherited disorders in the metabolism (synthesis, utilization, recycling) of the dolichols have recently been described, and all are associated with decreased lipid-linked oligosaccharides leading to underglycosylated proteins or lipids which facilitate their detection in the diagnostic laboratory. Multisystem pathology encompasses developmental delays and eye, heart, skin and muscle abnormalities; outcomes range from death in infancy to mild, late-onset disease.
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