(Q34869853)

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Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia

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Europe PubMed Central

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5 August 2017

Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia (English)

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Europe PubMed Central

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5 August 2017

14

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Sarah C R Lummis

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5 August 2017

author name string

Natascha Schaefer

1

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5 August 2017

Christoph J Kluck

2

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5 August 2017

Kerry L Price

3

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5 August 2017

Heike Meiselbach

4

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5 August 2017

Nadine Vornberger

5

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5 August 2017

Stephan Schwarzinger

6

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5 August 2017

Stephanie Hartmann

7

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5 August 2017

Georg Langlhofer

8

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5 August 2017

Solveig Schulz

9

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5 August 2017

Nadja Schlegel

10

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5 August 2017

Knut Brockmann

11

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5 August 2017

Bryan Lynch

12

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5 August 2017

Cord-Michael Becker

13

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5 August 2017

Carmen Villmann

15

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5 August 2017

language of work or name

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publication date

1 January 2015

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5 August 2017

Journal of Neuroscience

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5 August 2017

35

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5 August 2017

1

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5 August 2017

422-437

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Europe PubMed Central

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5 August 2017

The impact of human hyperekplexia mutations on glycine receptor structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Glycine receptor mouse mutants: model systems for human hyperekplexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

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8 July 2018

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

1 reference

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Histaminergic pharmacology of homo-oligomeric β3 γ-aminobutyric acid type A receptors characterized by surface plasmon resonance biosensor technology.

1 reference

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8 July 2018

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

1 reference

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8 July 2018

A structural and mutagenic blueprint for molecular recognition of strychnine and d-tubocurarine by different cys-loop receptors

1 reference

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8 July 2018

A cation-π interaction at a phenylalanine residue in the glycine receptor binding site is conserved for different agonists

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Structural determinants for interaction of partial agonists with acetylcholine binding protein and neuronal α7 nicotinic acetylcholine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Endoplasmic reticulum chaperones stabilize nicotinic receptor subunits and regulate receptor assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Protein degradation by the ubiquitin-proteasome pathway in normal and disease states

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Long-term exposure to the new nicotinic antagonist 1,2-bisN-cytisinylethane upregulates nicotinic receptor subtypes of SH-SY5Y human neuroblastoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Comparative protein structure modeling. Introduction and practical examples with modeller.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Molecular determinants of glycine receptor subunit assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Errors in protein structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Efficiency of acetylcholine receptor subunit assembly and its regulation by cAMP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

A functional alpha-bungarotoxin receptor is present in chick cerebellum: purification and characterization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

8 July 2018

Nicotine-modulated subunit stoichiometry affects stability and trafficking of α3β4 nicotinic receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

GLRB is the third major gene of effect in hyperekplexia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

Conserved High Affinity Ligand Binding and Membrane Association in the Native and Refolded Extracellular Domain of the Human Glycine Receptor α1-Subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

A basic cluster determines topology of the cytoplasmic M3-M4 loop of the glycine receptor alpha1 subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4287157

26 October 2018

Protein concentration is not an absolute prerequisite for the determination of secondary structure from circular dichroism spectra: a new scaling method

1 reference

https://pubmed.ncbi.nlm.nih.gov/25568133

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/25568133

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.1509-14.2015

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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