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Article

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

Human molecular genetics - 15 Nov 2009

Paesold-Burda Patricie, Maag Charlotte, Troxler Heinz, Foulquier François, Kleinert Peter, Schnabel Siegrun, Baumgartner Matthias, Hennet Thierry

Abstract excerpt

The conserved oligomeric Golgi (COG) complex is a tethering factor composed of eight subunits that is involved in the retrograde transport of intra-Golgi components. Deficient biosynthesis of COG subunits leads to alterations of protein trafficking along the secretory pathway and thereby to severe diseases in humans. Since the COG complex affects the localization of several Golgi glycosyltransferase enzymes, COG...

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Topics

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Fibroblasts

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Share to Metabolism, Inborn Errors

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Source

Identifiers

PMID: 19690088
DOI: 10.1093/hmg/ddp389

Genes

COG5
COG1
COG4
COG7
COG8

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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Research trail→

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Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.PMID 19690088Read ↗

COG5-CDG: expanding the clinical spectrum.Semantic proximity Read ↗

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

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

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.Semantic proximity Read ↗

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.Semantic proximity Read ↗

COG8 deficiency causes new congenital disorder of glycosylation type IIh.Semantic proximity Read ↗

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

Key features and clinical variability of COG6-CDG.Semantic proximity Read ↗

Identification of the first COG-CDG patient of Indian origin.Semantic proximity Read ↗

Golgi function and dysfunction in the first COG4-deficient CDG type II patientSemantic proximity Read ↗

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.Semantic proximity Read ↗

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.Semantic proximity Read ↗

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