Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. (Q53377114)

13 May 2018

title

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

1 reference

13 May 2018

1 reference

4

1 reference

13 May 2018

Matthias R Baumgartner

7

1 reference

13 May 2018

author name string

Patricie Paesold-Burda

1

1 reference

13 May 2018

Charlotte Maag

2

1 reference

13 May 2018

Heinz Troxler

3

1 reference

13 May 2018

Peter Kleinert

5

1 reference

13 May 2018

Siegrun Schnabel

6

1 reference

13 May 2018

Thierry Hennet

8

1 reference

13 May 2018

publication date

18 August 2009

1 reference

13 May 2018

published in

Human Molecular Genetics

1 reference

13 May 2018

volume

18

1 reference

13 May 2018

issue

22

1 reference

13 May 2018

page(s)

4350-4356

1 reference

13 May 2018

The congenital disorders of glycosylation: a multifaceted group of syndromes

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Congenital disorders of glycosylation: a rapidly expanding disease family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Congenital disorders of glycosylation: genetic model systems lead the way.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

IntraGolgi distribution of the Conserved Oligomeric Golgi (COG) complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

COG complex-mediated recycling of Golgi glycosyltransferases is essential for normal protein glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: evidence for membrane cycling from Golgi to ER

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Mass spectrometric analysis of human transferrin in different body fluids

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Alpha-1-acid glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Genotyping single nucleotide polymorphisms by mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Molecular and clinical characterization of a Moroccan Cog7 deficient patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

The Drosophila Cog5 homologue is required for cytokinesis, cell elongation, and assembly of specialized Golgi architecture during spermatogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

Human RFT1 deficiency leads to a disorder of N-linked glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP389

21 January 2018

Identifiers

DOI

10.1093/HMG/DDP389

1 reference

13 May 2018

1 reference

13 May 2018