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 …

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 …

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 …

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

G Moraga-Cid, L Sauguet, C Huon… - Proceedings of the …, 2015 - National Acad Sciences
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 …

Exploring the Activation Process of the Glycine Receptor

J Yan, L Chen, A Warshel, C Bai - Journal of the American …, 2024 - ACS Publications
Glycine receptors (GlyR) conduct inhibitory glycinergic neurotransmission in the spinal cord
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 …

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 …

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 …

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 …

Structure-function analysis of the GlyR α2 subunit autism mutation p. R323L reveals a gain-of-function

Y Zhang, TNT Ho, RJ Harvey, JW Lynch… - Frontiers in Molecular …, 2017 - frontiersin.org
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 …