(Q44095428)

29 November 2017

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

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29 November 2017

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Dimitri M Kullmann

5

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author name string

Ruth Rea

1

1 reference

29 November 2017

Marina A Tijssen

2

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29 November 2017

Colin Herd

3

1 reference

29 November 2017

Rune R Frants

4

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29 November 2017

language of work or name

English

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publication date

1 July 2002

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European Journal of Neuroscience

29 November 2017

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29 November 2017

16

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29 November 2017

2

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29 November 2017

186-196

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

29 November 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Functional integrity of green fluorescent protein conjugated glycine receptor channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Protein oligomerization in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Gephyrin antisense oligonucleotides prevent glycine receptor clustering in spinal neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Conserved quaternary structure of ligand-gated ion channels: the postsynaptic glycine receptor is a pentamer

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Role of ER export signals in controlling surface potassium channel numbers

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Identification of a gephyrin binding motif on the glycine receptor beta subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Solubilization of the glycine receptor from rat spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Primary structure and alternative splice variants of gephyrin, a putative glycine receptor-tubulin linker protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

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/10.1046%2FJ.1460-9568.2002.02054.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Protein sorting by selective retention in the endoplasmic reticulum and Golgi stack

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

Mutational analysis of familial and sporadic hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1460-9568.2002.02054.X

10.1046/J.1460-9568.2002.02054.X

21 January 2018

Identifiers

DOI

1 reference

29 November 2017

1 reference