期刊
NATURE MEDICINE
卷 10, 期 5, 页码 518-523出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nm1041
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资金
- NCI NIH HHS [R37 CA08759] Funding Source: Medline
- NIDDK NIH HHS [R01 DK55615] Funding Source: Medline
- NIGMS NIH HHS [U54 GM62116, R24 GM61894, GM59115] Funding Source: Medline
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.
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