Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation

Lynne A. Wolfe, Eva Morava, Miao He, Jerry Vockley, K. Michael Gibson

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)322-328
Number of pages7
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number4
DOIs
StatePublished - Nov 15 2012

Keywords

  • Cholesterol
  • Dolichol
  • Glycosylation
  • Ichthyosis
  • Isoprene
  • Isoprenoids
  • Mannosylation
  • Muscular dystrophy
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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