(Q43940147)

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Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice.

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 November 2017

Disease-specific human glycine receptor alpha1 subunit causes hyperekplexia phenotype and impaired glycine- and GABA(A)-receptor transmission in transgenic mice (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

author name string

Jörg von Wegerer

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

Johannes Schenkel

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

Hanns-Ulrich Zeilhofer

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

Dieter Swandulla

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

Hans Weiher

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

language of work or name

0 references

publication date

1 April 2002

1 reference

Europe PubMed Central

PubMed publication ID

28 November 2017

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

22

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

2505-2512

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

Cloning and expression of the 58 kd beta subunit of the inhibitory glycine receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GABA and glycine in synaptic vesicles: storage and transport characteristics.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NMDA and non-NMDA receptors are co-localized at individual excitatory synapses in cultured rat hippocampus

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and function of inhibitory glycine receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperekplexia: abnormal startle response due to glycine receptor mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The glycine receptor deficiency of the mutant mouse spastic: evidence for normal glycine receptor structure and localization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Point mutation of glycine receptor alpha 1 subunit in the spasmodic mouse affects agonist responses

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread expression of glycine receptor subunit mRNAs in the adult and developing rat brain

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stiff-man syndrome: an overview.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infrared videomicroscopy: a new look at neuronal structure and function

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physiological abnormalities in hereditary hyperekplexia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corelease of two fast neurotransmitters at a central synapse.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of postsynaptic GABA(A) receptor clustering in gephyrin-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presence of the vesicular inhibitory amino acid transporter in GABAergic and glycinergic synaptic terminal boutons

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inhibitory neurotransmission in rat spinal cord: co-localization of glycine- and GABAA-receptors at GABAergic synaptic contacts demonstrated by triple immunofluorescence staining.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperekplexia mutations of the glycine receptor unmask the inhibitory subsite for beta-amino-acids.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autoimmunity to gephyrin in Stiff-Man syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycine receptor alteration in the mutant mouse spastic

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Postsynaptic clustering of major GABAA receptor subtypes requires the gamma 2 subunit and gephyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Excitotoxic cell death dependent on inhibitory receptor activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression in brain of amyloid precursor protein mutated in the alpha-secretase site causes disturbed behavior, neuronal degeneration and premature death in transgenic mice.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presynaptic enhancement shown by whole-cell recordings of long-term potentiation in hippocampal slices

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of a functional vesicular GABA and glycine transporter by screening of genome databases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isoform-selective deficit of glycine receptors in the mouse mutant spastic

1 reference

https://pubmed.ncbi.nlm.nih.gov/11923415

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.22-07-02505.2002

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6758287&resulttype=core&format=json

12 May 2020

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