期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 160C, 期 4, 页码 322-328出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.c.31345
关键词
ichthyosis; retinitis pigmentosa; muscular dystrophy; dolichol; glycosylation; mannosylation; isoprene; isoprenoids; cholesterol
资金
- Sterol and Isoprenoid Diseases (STAIR), a component of the NIH Rare Diseases Clinical Research Network (RDCRN) [U54HD61939]
- NIH Office of Rare Diseases Research (ORDR)
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 diseasdisease. (C) 2012 Wiley Periodicals, Inc.
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