Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation (Q24309324)

Tumor suppressor candidate 3

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

cognition

1 reference

GOA release 2020-03-11

12

Jozef Gecz

Jozef

Gecz

1 reference

19 October 2023

10

Gillian Turner

Gillian

Turner

1 reference

19 October 2023

6

Jon Teague

Jon

Teague

1 reference

19 October 2023

7

Sarah Edkins

Sarah

Edkins

1 reference

19 October 2023

13

Arnold Munnich

Arnold

Munnich

1 reference

19 October 2023

François Foulquier

2

François

Foulquier

1 reference

19 October 2023

Laurence Colleaux

14

Laurence

Colleaux

1 reference

19 October 2023

8

P Andrew Futreal

P Andrew

Futreal

1 reference

19 October 2023

9

Michael R Stratton

Michael R

Stratton

1 reference

19 October 2023

1

Florence Molinari

Florence

Molinari

1 reference

19 October 2023

5

Sarah Boissel

Sarah

Boissel

1 reference

19 October 2023

3

Patrick S

Tarpey

Patrick S Tarpey

1 reference

19 October 2023

Willy Morelle

4

Willy

Morelle

1 reference

18455129

19 October 2023

Gert Matthijs

series ordinal

11

author given names

Gert

author last names

Matthijs

1 reference

18455129

American Journal of Human Genetics

19 October 2023

language of work or name

English

0 references

publication date

May 2008

0 references

published in

0 references

volume

82

0 references

issue

5

0 references

page(s)

1150-7

0 references

cites work

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

A synaptic model of memory: long-term potentiation in the hippocampus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Yeast oligosaccharyltransferase consists of two functionally distinct sub-complexes, specified by either the Ost3p or Ost6p subunit

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

The oligosaccharyltransferase complex from Saccharomyces cerevisiae. Isolation of the OST6 gene, its synthetic interaction with OST3, and analysis of the native complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Polysialic acid-neural cell adhesion molecule in brain plasticity: from synapses to integration of new neurons.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Analysis of protein glycosylation by mass spectrometry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Polysialylated neural cell adhesion molecule is involved in induction of long-term potentiation and memory acquisition and consolidation in a fear-conditioning paradigm.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

PSA-NCAM in mammalian structural plasticity and neurogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Genetic defects in the human glycome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

The congenital disorders of glycosylation: a multifaceted group of syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

An evolving view of the eukaryotic oligosaccharyltransferase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

The 3.4-kDa Ost4 protein is required for the assembly of two distinct oligosaccharyltransferase complexes in yeast

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Polysialic acid and the regulation of cell interactions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Cell biology of polysialic acid

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Evidence that long-term potentiation occurs within individual hippocampal synapses during learning.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Upregulation of polysialylated neural cell adhesion molecule in the dorsal hippocampus after contextual fear conditioning is involved in long-term memory formation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Two oligosaccharyl transferase complexes exist in yeast and associate with two different translocons.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

Glycosylation of proteins during a critical time window is necessary for the maintenance of long-term potentiation in the hippocampal CA1 region.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

PSA-NCAM is required for activity-induced synaptic plasticity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427205

10.1016/J.AJHG.2008.03.021

29 November 2018

Identifiers

DOI

0 references

Fatcat ID

release_mdmtb7wgxjbifm62mdcymat4ae

0 references

PMC publication ID

2427205

0 references