Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia (Q39680100)

20631190

13 September 2017

title

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia (English)

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13 September 2017

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19

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Mark I Rees

22

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Seo-Kyung Chung

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Jonathan Mullins

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Monique Ryan

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John Christodoulou

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author name string

Jean-François Vanbellinghen

2

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Angela Robinson

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Janina Hantke

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Carrie L Hammond

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Daniel F Gilbert

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Michael Freilinger

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Michael C Kruer

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Amira Masri

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Candan Gurses

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Colin Ferrie

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Kirsten Harvey

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Rita Shiang

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Frederick Andermann

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Eva Andermann

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Joseph W Lynch

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Robert J Harvey

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language of work or name

English

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publication date

1 July 2010

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20631190

13 September 2017

published in

Journal of Neuroscience

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volume

30

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issue

28

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page(s)

9612-9620

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describes a project that uses

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inferred from PubMed Central ID database lookup

cites work

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations

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12 December 2020

T-Coffee: A novel method for fast and accurate multiple sequence alignment

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A single beta subunit M2 domain residue controls the picrotoxin sensitivity of alphabeta heteromeric glycine receptor chloride channels

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12 December 2020

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

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12 December 2020

Identification of a novel residue within the second transmembrane domain that confers use-facilitated block by picrotoxin in glycine alpha 1 receptors.

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12 December 2020

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

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12 December 2020

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking

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12 December 2020

Anesthetic and ethanol effects on spontaneously opening glycine receptor channels

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A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

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Refined structure of the nicotinic acetylcholine receptor at 4A resolution

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

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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families

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Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation

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

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

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

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

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

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6632444&resulttype=core&format=json

15 May 2020

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15 May 2020

20631190

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