@article{d7a2c4391615425fbc5eea6063f25cdb,
title = "Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder",
abstract = "The congenital disorders of glycosylation (CDG) are characterized by defects in N-linked glycan biosynthesis that result from mutations in genes encoding proteins directly involved in the glycosylation pathway. Here we describe two siblings with a fatal form of CDG caused by a mutation in the gene encoding COG-7, a subunit of the conserved oligomeric Golgi (COG) complex. The mutation impairs integrity of the COG complex and alters Golgi trafficking, resulting in disruption of multiple glycosylation pathways. These cases represent a new type of CDG in which the molecular defect lies in a protein that affects the trafficking and function of the glycosylation machinery.",
author = "Xiaohua Wu and Steet, {Richard A.} and Ognian Bohorov and Jaap Bakker and John Newell and Monty Krieger and Leo Spaapen and Stuart Kornfeld and Freeze, {Hudson H.}",
note = "Funding Information: We thank D. Ungar, T. Oka and V. Lupashin for purified COG antibodies; M. Ichikawa for technical support; B. Hayes and J. Kawakami for sugar nucleotide pool measurements; M. Fukuda for ST3Gal-I–GFP construct; D. Ory for assistance in preparing the retrovirus; and J. Sijstermans and S. van der Meer for clinical evaluation of the patients. This work was supported by grants RO1 DK55615 (H.H.F.), R37 CA08759 (S.K.), GM59115 (M.K.), U54 GM62116 and R24 GM61894, and by the March of Dimes Foundation (H.H.F.)",
year = "2004",
month = may,
doi = "10.1038/nm1041",
language = "English",
volume = "10",
pages = "518--523",
journal = "Nature medicine",
issn = "1078-8956",
number = "5",
}