The impact of human hyperekplexia mutations on glycine receptor structure and function
A Bode, JW Lynch - Molecular brain, 2014 - Springer
Hyperekplexia is a rare neurological disorder characterized by neonatal hypertonia,
exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea …
exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea …
Impaired glycine receptor trafficking in neurological diseases
N Schaefer, V Roemer, D Janzen… - Frontiers in molecular …, 2018 - frontiersin.org
Ionotropic glycine receptors (GlyRs) enable fast synaptic neurotransmission in the adult
spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride …
spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride …
Glycine receptor autoantibodies impair receptor function and induce motor dysfunction
V Rauschenberger, N von Wardenburg… - Annals of …, 2020 - Wiley Online Library
Objective Impairment of glycinergic neurotransmission leads to complex movement and
behavioral disorders. Patients harboring glycine receptor autoantibodies suffer from stiff …
behavioral disorders. Patients harboring glycine receptor autoantibodies suffer from stiff …
Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure
The glycine receptor (GlyR) is a pentameric ligand-gated ion channel (pLGIC) mediating
inhibitory transmission in the nervous system. Its transmembrane domain (TMD) is the target …
inhibitory transmission in the nervous system. Its transmembrane domain (TMD) is the target …
Exploring the Activation Process of the Glycine Receptor
Glycine receptors (GlyR) conduct inhibitory glycinergic neurotransmission in the spinal cord
and the brainstem. They play an important role in muscle tone, motor coordination …
and the brainstem. They play an important role in muscle tone, motor coordination …
GABAA Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
CC Hernandez, Y Zhang, N Hu, D Shen, W Shen… - Scientific reports, 2017 - nature.com
GABAA receptors are brain inhibitory chloride ion channels. Here we show functional
analyses and structural simulations for three de novo missense mutations in the GABAA …
analyses and structural simulations for three de novo missense mutations in the GABAA …
The intracellular loop of the glycine receptor: it's not all about the size
G Langlhofer, C Villmann - Frontiers in molecular neuroscience, 2016 - frontiersin.org
The family of Cys-loop receptors (CLRs) shares a high degree of homology and sequence
identity. The overall structural elements are highly conserved with a large extracellular …
identity. The overall structural elements are highly conserved with a large extracellular …
Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia
N Schaefer, CJ Kluck, KL Price… - Journal of …, 2015 - Soc Neuroscience
Recent studies on the pathogenic mechanisms of recessive hyperekplexia indicate
disturbances in glycine receptor (GlyR) α1 biogenesis. Here, we examine the properties of a …
disturbances in glycine receptor (GlyR) α1 biogenesis. Here, we examine the properties of a …
Advances in hyperekplexia and other startle syndromes
F Zhan, SG Wang, L Cao - Neurological Sciences, 2021 - Springer
Startle, a basic alerting reaction common to all mammals, is described as a sudden
involuntary movement of the body evoked by all kinds of sudden and unexpected stimulus …
involuntary movement of the body evoked by all kinds of sudden and unexpected stimulus …
Structure-function analysis of the GlyR α2 subunit autism mutation p. R323L reveals a gain-of-function
Glycine receptors (GlyRs) containing the α2 subunit regulate cortical interneuron migration.
Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical …
Disruption of the GlyR α2 subunit gene (Glra2) in mice leads to disrupted dorsal cortical …