hyperekplexia/arginine

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Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

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Prijava / prijava

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome

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

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Prijava / prijava

The receptor for the inhibitory neurotransmitter glycine is a member of the ligand-gated ion channel receptor superfamily. Point mutations in the gene encoding the alpha 1 subunit of the glycine receptor-channel complex (GlyR) have recently been identified in pedigrees with the autosomal dominant

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

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beta-Alanine and taurine are agonists of the glycine receptor (GlyR) which, at low concentrations, antagonize the action of the principal agonist glycine. We analysed the potency of these ligands on alpha 1 subunits mutated at residue R271. GlyRs formed from alpha 1R271K subunits showed a reduction

Hyperekplexia in neonates.

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Prijava / prijava

Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine

Novel mutation in GLRB in a large family with hereditary hyperekplexia.

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Hereditary hyperekplexia (HH) is a disorder of the inhibitory glycinergic neurotransmitter system. Mutations in five genes have been reported to cause the disease. However, only single mutation in GLRB, the gene encoding beta-subunit of the glycine receptor, in a singleton patient with HH has been

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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Prijava / prijava

Hyperekplexia or startle disease (stiff baby syndrome, STHE) is a hereditary neurological disorder characterised by an exaggerated startle response and infantile muscle hypertonia. Several autosomal dominant and recessive forms of the disorder have been associated with point mutations in GLRA1, the

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

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Prijava / prijava

The human neurological disorder hyperekplexia is frequently caused by recessive and dominant mutations of the glycine receptor alpha1 subunit gene, GLRA1. Dominant forms are mostly attributed to amino acid substitutions within the ion pore or adjacent loops, resulting in altered channel properties.

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.

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Hyperekplexia or startle disease is a rare clinical syndrome characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. This neurological disorder can have serious consequences in neonates, provoking brain damage and/or sudden death due to apnea episodes and

Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists.

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Prijava / prijava

Agonist binding to the inhibitory glycine receptor (GlyR) initiates the opening of a chloride-selective channel that modulates the neuronal membrane potential. Point mutations of the GlyR, substituting Arg-271 with either Leu or Gln, have been shown to underlie the inherited neurological disorder

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses.

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Prijava / prijava

Inhibitory glycine receptors (GlyRs) are pentameric ligand-gated anion channels with major roles in startle disease/hyperekplexia (GlyR α1), cortical neuronal migration/autism spectrum disorder (GlyR α2), and inflammatory pain sensitization/rhythmic breathing (GlyR α3). However, the role of the GlyR

Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice.

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Prijava / prijava

Human hereditary hyperekplexia ("startle disease") is a neurological disorder characterized by exaggerated, convulsive movements in response to unexpected stimuli. Molecular genetic studies have shown that this disease is often caused by amino acid substitutions at arginine 271 to glutamine or

Mutations affecting the glycine receptor agonist transduction mechanism convert the competitive antagonist, picrotoxin, into an allosteric potentiator.

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Contrary to its effects on the gamma-aminobutyric acid type A receptor, picrotoxin antagonism of the alpha 1 subunit of the human glycine receptor is shown to be competitive, not use-dependent, and nonselective between the picrotoxin components, picrotin, and picrotoxinin. Competitive antagonism and

Charged residues at the pore extracellular half of the glycine receptor facilitate channel gating: a potential role played by electrostatic repulsion

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Prijava / prijava

rong class="sub-title"> Key points: rong> The Arg271Gln mutation of the glycine receptor (GlyR) causes hereditary hyperekplexia. This mutation dramatically compromises GlyR function; however, the underlying mechanism is not yet known. This study, by employing function

Expression of glycine receptors in rat sensory neurons vs. HEK293 cells yields different functional properties.

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Prijava / prijava

Many structure-function studies of the glycine receptor (GlyR), and other ligand-gated ion channels, use somatic cell lines or Xenopus oocytes as expression systems. Using a polyethylenimine-based technique, we transfected GlyR cDNA into primary cultures of rat dorsal root ganglion (DRG) neurons. We

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