(Q37333728)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

2

1 reference

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27 February 2020

Jonathan Mullins

3

1 reference

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27 February 2020

Angelo Keramidas

4

1 reference

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27 February 2020

Thomas D Cushion

5

1 reference

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27 February 2020

Rhys H Thomas

6

1 reference

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27 February 2020

William O Pickrell

7

1 reference

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27 February 2020

Samuel Berkovic

30

1 reference

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27 February 2020

Owain W. Howell

31

1 reference

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27 February 2020

Mark I Rees

33

1 reference

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27 February 2020

Seo-Kyung Chung

34

1 reference

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27 February 2020

19

Elie G Karam

1 reference

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27 February 2020

author name string

Anna Bode

1

1 reference

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27 February 2020

Cheney J G Drew

8

1 reference

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27 February 2020

Amira Masri

9

1 reference

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27 February 2020

Elizabeth A Jones

10

1 reference

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27 February 2020

Grace Vassallo

11

1 reference

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27 February 2020

Alfred P Born

12

1 reference

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27 February 2020

Fusun Alehan

13

1 reference

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27 February 2020

Sharon Aharoni

14

1 reference

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27 February 2020

Gerald Bannasch

15

1 reference

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27 February 2020

Marius Bartsch

16

1 reference

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27 February 2020

Bulent Kara

17

1 reference

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27 February 2020

Amanda Krause

18

1 reference

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27 February 2020

Stephanie Matta

20

1 reference

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27 February 2020

Vivek Jain

21

1 reference

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27 February 2020

Hanna Mandel

22

1 reference

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27 February 2020

Michael Freilinger

23

1 reference

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27 February 2020

Gail E Graham

24

1 reference

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27 February 2020

Emma Hobson

25

1 reference

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27 February 2020

Sue Chatfield

26

1 reference

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27 February 2020

Catherine Vincent-Delorme

27

1 reference

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27 February 2020

Jubran E Rahme

28

1 reference

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27 February 2020

Zaid Afawi

29

1 reference

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27 February 2020

Jean-François Vanbellinghen

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

Joseph W Lynch

35

1 reference

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27 February 2020

language of work or name

English

0 references

publication date

9 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

27 February 2020

published in

1 reference

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27 February 2020

volume

288

1 reference

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27 February 2020

issue

47

1 reference

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27 February 2020

page(s)

33745-33759

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

27 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Mechanism of action of the insecticides, lindane and fipronil, on glycine receptor chloride channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Principles of activation and permeation in an anion-selective Cys-loop receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Structure-function study of the fourth transmembrane segment of the GABAρ1 receptor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Atomic structure and dynamics of pentameric ligand-gated ion channels: new insight from bacterial homologues.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A cation-pi interaction in the binding site of the glycine receptor is mediated by a phenylalanine residue

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Native glycine receptor subtypes and their physiological roles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Illuminating the structure and function of Cys-loop receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Database resources of the National Center for Biotechnology Information

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Biskit--a software platform for structural bioinformatics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

The beta subunit determines the ligand binding properties of synaptic glycine receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Molecular structure and function of the glycine receptor chloride channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

UCSF Chimera--a visualization system for exploratory research and analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Tools for comparative protein structure modeling and analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Openings of the rat recombinant alpha 1 homomeric glycine receptor as a function of the number of agonist molecules bound

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

T-Coffee: A novel method for fast and accurate multiple sequence alignment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Mutational analysis of familial and sporadic hyperekplexia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Importance of the C-terminus of the human 5-HT3A receptor subunit

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

A yellow fluorescent protein-based assay for high-throughput screening of glycine and GABAA receptor chloride channels.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Stoichiometry and subunit arrangement of α1β glycine receptors as determined by atomic force microscopy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

An intramembrane aromatic network determines pentameric assembly of Cys-loop receptors

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

GLRB is the third major gene of effect in hyperekplexia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

The M4 transmembrane segment contributes to agonist efficacy differences between alpha1 and alpha3 glycine receptors

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Functional complementation of Glra1(spd-ot), a glycine receptor subunit mutant, by independently expressed C-terminal domains.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Conformational variability of the glycine receptor M2 domain in response to activation by different agonists

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Critical role of the C-terminal segment in the maturation and export to the cell surface of the homopentameric alpha 7-5HT3A receptor

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Analysis of the set of GABA(A) receptor genes in the human genome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837119

Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24108130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24108130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hyperekplexia caused by dominant-negative suppression of glyra1 function

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24108130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M113.509240

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24108130%20AND%20SRC:MED&resulttype=core&format=json