(Q40043725)

16 September 2017

title

The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor (English)

1 reference

16 September 2017

Kristina Becker

1

1 reference

16 September 2017

Hans-Georg Breitinger

2

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16 September 2017

Andreas Humeny

3

1 reference

16 September 2017

Hans-Michael Meinck

4

1 reference

16 September 2017

Bernd Dietz

5

1 reference

16 September 2017

Fuat Aksu

6

1 reference

16 September 2017

Cord-Michael Becker

7

1 reference

16 September 2017

publication date

28 November 2007

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European Journal of Human Genetics

16 September 2017

published in

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16 September 2017

volume

16

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16 September 2017

issue

2

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16 September 2017

page(s)

223-228

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

16 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Molecular structure and function of the glycine receptor chloride channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Sites of alcohol and volatile anesthetic action on glycine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Sites of alcohol and volatile anaesthetic action on GABA(A) and glycine receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Effects of ethanol on recombinant glycine receptors expressed in mammalian cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Enhancement of glycine receptor function by ethanol is inversely correlated with molecular volume at position alpha267.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Structure and dynamics of the second and third transmembrane domains of human glycine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

Transgenic expression of a mutant glycine receptor decreases alcohol sensitivity of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

inferred from DOI database lookup

7 January 2021

based on heuristic

NMR structures of the second transmembrane domain of the human glycine receptor alpha(1) subunit: model of pore architecture and channel gating

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

inferred from DOI database lookup

7 January 2021

based on heuristic

Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201958

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201958

1 reference

Dimensions Publication ID

16 September 2017

1045022601

0 references

1 reference