(Q42125586)

English

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia

scientific article published on 22 December 2015

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Disturbances of Ligand Potency and Enhanced Degradation of the Human Glycine Receptor at Affected Positions G160 and T162 Originally Identified in Patients Suffering from Hyperekplexia (English)

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

author name string

Sinem Atak

1

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Georg Langlhofer

2

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Natascha Schaefer

3

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Denise Kessler

4

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Heike Meiselbach

5

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Carolyn Delto

6

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Hermann Schindelin

7

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Carmen Villmann

8

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

publication date

22 December 2015

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Frontiers in Molecular Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

8

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

79

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

Crystal structure of human glycine receptor-α3 bound to antagonist strychnine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Glycine receptor mechanism elucidated by electron cryo-microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Agonist and antagonist binding in human glycine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

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=4686643

29 May 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=4686643

29 May 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=4686643

29 May 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=4686643

29 May 2018

The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 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=4686643

29 May 2018

Features and development of Coot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

Ligand-specific conformational changes in the alpha1 glycine receptor ligand-binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Structure of a potentially open state of a proton-activated pentameric ligand-gated ion channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

The genetics of hyperekplexia: more than startle!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

In and Out of the ER: Protein Folding, Quality Control, Degradation, and Related Human Diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

Hyperekplexia mutation R271L of alpha1 glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [3H]strychnine binding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

Molecular structure and function of the glycine receptor chloride channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Protein degradation and protection against misfolded or damaged proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Histones H3/H4 form a tight complex with the inner nuclear membrane protein LBR and heterochromatin protein 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

Secretory protein trafficking and organelle dynamics in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

The glycine receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 2018

Mutation of glycine receptor subunit creates beta-alanine receptor responsive to GABA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

29 May 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=4686643

29 May 2018

The time course of transmitter at glycinergic synapses onto motoneurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

17 August 2018

Artifactual detection of biotin on histones by streptavidin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

17 August 2018

Ubiquitination precedes internalization and proteolytic cleavage of plasma membrane-bound glycine receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4686643

17 August 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26733802

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/26733802

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/26733802

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3389/FNMOL.2015.00079

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 October 2017

ResearchGate publication ID

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