The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor (Q40043725)

16 September 2017

title

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

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16 September 2017

Kristina Becker

1

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16 September 2017

Hans-Georg Breitinger

2

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16 September 2017

Andreas Humeny

3

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16 September 2017

Hans-Michael Meinck

4

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16 September 2017

Bernd Dietz

5

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16 September 2017

Fuat Aksu

6

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16 September 2017

Cord-Michael Becker

7

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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

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Dimensions Publication ID

16 September 2017

1045022601

0 references

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