Aleš Balík

Mice carrying a GluN2B protein-truncating variant have altered NMDA receptor subunit composition and their behavior recapitulates patient phenotypes

Klevinda Fili, Viktor Kuchtiak, Eni Tomović, Miriam Candelas et autres

Abstract Pathogenic variants in GRIN2B , encoding the NMDA receptor (NMDAR) GluN2B subunit, are linked to intellectual disability (ID) and related neurodevelopmental disorders. While most disease-associated variants are missense, protein-truncating variants (PTVs) may cause haploinsufficiency with less severe phenotypes. Here, we characterize …

cz (code pays fourni par la source)

Low-Intensity Constant Light During Early Postnatal Development Induces Sex-Specific Anxiety-Like Behaviour and Region- and Sex-Specific Changes in Circadian Gene Expression and RNA Editing

Aneta Kubištová, Veronika Spišská, Petra Málková, Jiřı́ Novotný et autres

Early-life exposure to light at night can disrupt the maturation of the circadian system and lead to long-lasting behavioural and molecular alterations. We exposed rat pups to constant light (LL; 16 lx) from birth (P0) to postnatal day 20, followed by a …

cz (code pays fourni par la source)

Phenotype of mice carrying an NMDA receptor GluN2B protein-truncating variant associated with intellectual disability

Klevinda Fili, Viktor Kuchtiak, Eni Tomović, Miriam Candelas et autres

Abstract Pathogenic variants in GRIN2B , encoding the NMDA receptor (NMDAR) GluN2B subunit, are linked to intellectual disability (ID) and related neurodevelopmental disorders. While most disease-associated variants are missense, protein-truncating variants (PTVs) may cause haploinsufficiency with less severe phenotypes. Here, we characterize …

cz, ru (code pays fourni par la source)

Disruption of grin2A , an Epilepsy-Associated Gene, Produces Altered Spontaneous Swim Behavior in Zebrafish

Vera Abramova, Eni Tomović, Bohdan Kysilov, Miloslav Kořı́nek et autres

N -Methyl- d -aspartate receptors (NMDARs) control synaptic plasticity and brain development in a manner determined by receptor subunit composition. Pathogenic variants in GRIN2A gene, encoding the NMDAR GluN2A subunit, can cause gain or loss of function of receptors containing the affected …

cz (code pays fourni par la source)

Disruption of grin2A , an epilepsy-associated gene, produces altered spontaneous swim behavior in zebrafish

Vera Abramova, Eni Tomović, Bohdan Kysilov, Miloslav Kořı́nek et autres

ABSTRACT N-methyl-D-aspartate receptors (NMDARs) control synaptic plasticity and brain development in a manner determined by receptor subunit composition. Pathogenic variants in GRIN2A gene, encoding the NMDAR GluN2A subunit, can cause gain or loss of function of receptors containing the affected subunit, and …

cz, us (code pays fourni par la source)

Characterization of Mice Carrying a Neurodevelopmental Disease-Associated GluN2B(L825V) Variant

Miriam Candelas, Viktor Kuchtiak, Agnieszka Kubik‐Zahorodna, Bohdan Kysilov et autres

N -Methyl- d -aspartate receptors (NMDARs), encoded by GRIN genes, are ionotropic glutamate receptors playing a critical role in synaptic transmission, plasticity, and synapse development. Genome sequence analyses have identified variants in GRIN genes in patients with neurodevelopmental disorders, but the underlying …

cz (code pays fourni par la source)

Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids

Bohdan Kysilov, Viktor Kuchtiak, Barbora Hrčka Krausová, Aleš Balík et autres

N-methyl-D-aspartate receptors (NMDARs) play a critical role in normal brain function, and variants in genes encoding NMDAR subunits have been described in individuals with various neuropsychiatric disorders. We have used whole-cell patch-clamp electrophysiology, fluorescence microscopy and in-silico modeling to explore the functional …

cz, us (code pays fourni par la source)

Analysis of Surface Expression of NMDAR Subunits in Primary Hippocampal Neurons

Viktor Kuchtiak, Tereza Smejkalová, Martin Hořák, Ladislav Vyklický et autres

cz (code pays fourni par la source)

The disruption of circadian rhythmicity of gene expression in the hippocampus and associated structures in Gria2 mice; a comparison with C57BL/6J and Adar2 mice strains

M. N. Lebedeva, Aneta Kubištová, Veronika Spišská, Eva Filipovská et autres

cz, jp (code pays fourni par la source)

Ventral posterolateral and ventral posteromedial thalamocortical neurons have distinct physiological properties

Carleigh Studtmann, Marek Ladislav, Mona Safari, Rabeya Khondaker et autres

This study revealed that somatosensory thalamocortical neurons in the VPL and VPM have substantial differences in excitatory synaptic input and intrinsic firing properties. The distinct properties suggest that VPL and VPM neurons could process somatosensory information differently and have selective vulnerability to …

us, cz (code pays fourni par la source)

The disturbance of circadian rhythmicity of clock gene expression in Gria2R/R mice; the comparison with C57BL/6J and Adar2-/- mice strains

Maria A. Lebedeva, Aneta Kubištová, Veronika Spišská, Eva Filipovská et autres

Abstract Adar2-/- mice are a widely used model to study the physiological consequences of reduced RNA editing. These mice are viable only when the Q/R editing site of the Gria2 subunit of the AMPA receptor is constitutively mutated to the codon for …

cz (code pays fourni par la source)

Effects of Pregnanolone Glutamate and Its Metabolites on GABA A and NMDA Receptors and Zebrafish Behavior

Vera Abramova, Vanessa Leal Alvarado, Martin Hill, Tereza Smejkalová et autres

Multiple molecular targets have been identified to mediate membrane-delimited and nongenomic effects of natural and synthetic steroids, but the influence of steroid metabolism on neuroactive steroid signaling is not well understood. To begin to address this question, we set out to identify …

cz (code pays fourni par la source)