Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease (Q24338670)

21 June 2017

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease (English)

1 reference

Solute carrier family 6 member 5

21 June 2017

1 reference

glycine import across plasma membrane

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Arn van den Maagdenberg

16

Arn M J M van den Maagdenberg

0 references

Ian C Duguid

Ian C Duguid

5

0 references

Seo-Kyung Chung

Seo-Kyung Chung

4

0 references

Linlea Armstrong

Linlea Armstrong

9

0 references

Mark I Rees

Mark I Rees

1

0 references

Robert J. Harvey

Robert J Harvey

19

0 references

Sameer M Zuberi

12

Sameer M Zuberi

0 references

Marina A. J. Tijssen

15

Marina A J Tijssen

1 reference

21 June 2017

17

Trevor G Smart

1 reference

21 June 2017

Kirsten Harvey

2

1 reference

21 June 2017

Brian R Pearce

3

1 reference

21 June 2017

Philip Thomas

6

1 reference

21 June 2017

Sarah Beatty

7

1 reference

21 June 2017

Gail E Graham

8

1 reference

21 June 2017

Rita Shiang

10

1 reference

21 June 2017

Kim J Abbott

11

1 reference

21 June 2017

Sameer M Zuberi

12

1 reference

21 June 2017

John B P Stephenson

13

1 reference

21 June 2017

Michael J Owen

14

1 reference

21 June 2017

Stéphane Supplisson

18

1 reference

21 June 2017

language of work or name

English

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publication date

4 June 2006

1 reference

21 June 2017

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21 June 2017

38

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21 June 2017

7

1 reference

21 June 2017

801-806

1 reference

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

21 June 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

High prevalence of SLC6A8 deficiency in 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=3204411

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

The glial and the neuronal glycine transporters differ in their reactivity to sulfhydryl reagents

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Mutational analysis of familial and sporadic hyperekplexia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Glycine transporters: essential regulators of neurotransmission.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

The neuronal glycine transporter 2 interacts with the PDZ domain protein syntenin-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Role of the GABA transporter in epilepsy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Gene knockout of glycine transporter 1: characterization of the behavioral phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Membrane glycine transport proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Why glycine transporters have different stoichiometries.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Monoamine transporter gene structure and polymorphisms in relation to psychiatric and other complex disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Surface-localized glycine transporters 1 and 2 function as monomeric proteins in Xenopus oocytes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

GABA uptake inhibitors. Design, molecular pharmacology and therapeutic aspects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Neuronal and glial glycine transporters have different stoichiometries

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

Enhancement of the NMDA receptor function by reduction of glycine transporter-1 expression

27 September 2017

1 reference

Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.

21 January 2018

1 reference

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality

21 January 2018

1 reference

Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulation.

21 January 2018

1 reference

Steady states, charge movements, and rates for a cloned GABA transporter expressed in Xenopus oocytes.

21 January 2018

1 reference

Cellular localization and subcellular distribution of Unc-33-like protein 6, a brain-specific protein of the collapsin response mediator protein family that interacts with the neuronal glycine transporter 2.

21 January 2018

1 reference

Ion binding and permeation at the GABA transporter GAT1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3204411

29 November 2018

Identifiers

DOI

10.1038/NG1814

1 reference

Dimensions Publication ID

21 June 2017

1001320468

0 references

OpenCitations bibliographic resource ID

1059371

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference