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Article

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

Nature medicine - 1 May 2004

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15107842
DOI: 10.1038/nm1041

Genes

COG7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.PMID 15107842Read ↗

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A new mutation in COG7 extends the spectrum of COG subunit deficiencies.Semantic proximity Read ↗

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COG Complex in Golgi Trafficking and Glycosylation.Semantic proximity Read ↗

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.Semantic proximity Read ↗

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.Semantic proximity Read ↗

Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene.Semantic proximity Read ↗

Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes.Semantic proximity Read ↗

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COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes.Semantic proximity Read ↗

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of GlycosylationSemantic proximity Read ↗

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