Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder-Reference-Cited by-同舟云学术

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

Published:2004-04-25 Issue:5 Volume:10 Page:518-523
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Wu Xiaohua,Steet Richard A,Bohorov Ognian,Bakker Jaap,Newell John,Krieger Monty,Spaapen Leo,Kornfeld Stuart,Freeze Hudson H

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/nm1041.pdf

Reference29 articles.

1. Varki, A. Biological roles of oligosaccharides: all of the theories are correct. Glycobiology 3, 97–130 (1993).

2. Storrie, B. et al. Recycling of Golgi-resident glycosyltransferases through the ER reveals a novel pathway and provides an explanation for nocodazole-induced Golgi scattering. J. Cell Biol. 143, 1505–1521 (1998).

3. Marquardt, T. & Denecke, J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur. J. Pediatr. 162, 359–379 (2003).

4. Grunewald, S., Matthijs, G. & Jaeken, J. Congenital disorders of glycosylation: a review. Pediatr. Res. 52, 618–624 (2002).

5. Schauer, R. Biosynthesis and function of N- and O-substituted sialic acids. Glycobiology 1, 449–452 (1991).

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