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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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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| uniprot:name |
Nat. Med.
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| uniprot:author |
Bakker J.,
Bohorov O.,
Freeze H.H.,
Kornfeld S.,
Krieger M.,
Newell J.,
Spaapen L.,
Steet R.A.,
Wu X.
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| uniprot:date |
2004
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| uniprot:pages |
518-523
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| uniprot:title |
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.
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| uniprot:volume |
10
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| dc-term:identifier |
doi:10.1038/nm1041
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