(Q30450702)

12 August 2017

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease (English)

1 reference

12 August 2017

23

Sameer M Zuberi

0 references

Victoria M James

Victoria M James

3

0 references

Seo-Kyung Chung

Seo-Kyung Chung

2

0 references

Mark I Rees

Mark I Rees

29

0 references

Rhys H Thomas

Rhys H Thomas

27

0 references

Robert J. Harvey

Robert J Harvey

30

0 references

Marina A. J. Tijssen

21

Marina A J Tijssen

1 reference

12 August 2017

Eloisa Carta

1

1 reference

12 August 2017

Angela Robinson

4

1 reference

12 August 2017

Jennifer L Gill

5

1 reference

12 August 2017

Nathalie Remy

6

1 reference

12 August 2017

Jean-François Vanbellinghen

7

1 reference

12 August 2017

Cheney J G Drew

8

1 reference

12 August 2017

Sophie Cagdas

9

1 reference

12 August 2017

Duncan Cameron

10

1 reference

12 August 2017

Frances M Cowan

11

1 reference

12 August 2017

Mireria Del Toro

12

1 reference

12 August 2017

Gail E Graham

13

1 reference

12 August 2017

Adnan Y Manzur

14

1 reference

12 August 2017

Amira Masri

15

1 reference

12 August 2017

Serge Rivera

16

1 reference

12 August 2017

Emmanuel Scalais

17

1 reference

12 August 2017

Rita Shiang

18

1 reference

12 August 2017

Kate Sinclair

19

1 reference

12 August 2017

Catriona A Stuart

20

1 reference

12 August 2017

Grahame Wise

22

1 reference

12 August 2017

Sameer M Zuberi

23

1 reference

12 August 2017

Kirsten Harvey

24

1 reference

12 August 2017

Brian R Pearce

25

1 reference

12 August 2017

Maya Topf

26

1 reference

12 August 2017

Stéphane Supplisson

28

1 reference

12 August 2017

language of work or name

English

0 references

publication date

14 June 2012

1 reference

Journal of Biological Chemistry

12 August 2017

1 reference

12 August 2017

287

1 reference

12 August 2017

34

1 reference

12 August 2017

28975-28985

1 reference

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Novel mutation in GLRB in a large family with hereditary hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

A glutamine residue conserved in the neurotransmitter:sodium:symporters is essential for the interaction of chloride with the GABA transporter GAT-1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Serotonin receptor 1A-modulated phosphorylation of glycine receptor α3 controls breathing in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

The glycinergic system in human startle disease: a genetic screening approach

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

A competitive inhibitor traps LeuT in an open-to-out conformation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

The glycine transporter GlyT2 controls the dynamics of synaptic vesicle refilling in inhibitory spinal cord neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

The genetics of hyperekplexia: more than startle!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

20 June 2018

The meaning of nonsense

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Highly effective SNP-based association mapping and management of recessive defects in livestock

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Stereochemical criteria for prediction of the effects of proline mutations on protein stability

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Mechanism of chloride interaction with neurotransmitter:sodium symporters.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Identification of a chloride ion binding site in Na+/Cl -dependent transporters.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Statistical potential for assessment and prediction of protein structures

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

The HHpred interactive server for protein homology detection and structure prediction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Glycinergic neurons expressing enhanced green fluorescent protein in bacterial artificial chromosome transgenic mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

The interaction of the gamma-aminobutyric acid transporter GAT-1 with the neurotransmitter is selectively impaired by sulfhydryl modification of a conformationally sensitive cysteine residue engineered into extracellular loop IV

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Tools for comparative protein structure modeling and analysis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Rotamer libraries in the 21st century

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Neuronal and glial glycine transporters have different stoichiometries

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Measurement of transient currents from neurotransmitter transporters expressed in Xenopus oocytes.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Mutational analysis of familial and sporadic hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Startle disease: an avoidable cause of sudden infant death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Hyperekplexia and sudden neonatal death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436555

Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.

20 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

pGenTHREADER and pDomTHREADER: new methods for improved protein fold recognition and superfamily discrimination

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

A Second Generation Force Field for the Simulation of Proteins, Nucleic Acids, and Organic Molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

Glycine transporter dimers: evidence for occurrence in the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

Delineation of an endogenous zinc-binding site in the human dopamine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

Zn2+ inhibits glycine transport by glycine transporter subtype 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

Structure and function of extracellular loop 4 of the serotonin transporter as revealed by cysteine-scanning mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.372094

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22700964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M112.372094

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22700964

1 reference