Document Detail

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.
MedLine Citation:
PMID:  23059969     Owner:  NLM     Status:  MEDLINE    
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.
Lynne A Wolfe; Eva Morava; Miao He; Jerry Vockley; K Michael Gibson
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review     Date:  2012-10-11
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  160C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-23     Completed Date:  2013-04-29     Revised Date:  2014-02-10    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  322-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
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MeSH Terms
Child, Preschool
Congenital Disorders of Glycosylation* / genetics,  metabolism,  mortality,  physiopathology
Dolichol / metabolism*
Infant, Newborn
Sterols / metabolism
Grant Support
Reg. No./Substance:
0/Sterols; 2067-66-5/Dolichol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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