anti-gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) 抗体

Human gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) interaction partners

1. high-resolution cryo-electron microscopy structures of the human alpha1beta2gamma2 GABAA receptor, the predominant isoform in the adult brain, in complex with GABA and the benzodiazepine site antagonist flumazenil, the first-line clinical treatment for benzodiazepine overdose

2. Study found that the C588T polymorphism of GABARG2 is associated with an increased risk of developing childhood idiopathic generalized epilepsy and may modulate patients' response to antiepileptic drugs.

3. This study demonstrated that GABRG2 expression in gamma2 in the cortical nuclei, and amygdalo-hippocampal/parahippocampal-amygdala transition areas.

4. Differential GABRG2 structure disturbances are correlated with disease severity.

5. A recurrent GABRG2 missense variant is associated with early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues.

6. The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for Febrile seizure and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea.

7. Study utilized targeted next-gen sequencing to identify a novel splicing variation (NM_198903.2:c.1249-1G > T) in the GABRG2 gene of a febrile seizure (FS) patient. The potential association of ten selected genetic polymorphisms in IL1RN (86-bp VNTR), IL10 (rs1900872), PTGS2 (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined.

8. This study identified a missense de novo mutation in the GABAA receptor gamma2 subunit, P302L, in a patient with Dravet syndrome. The mutation has a novel pathogenic mechanism to cause defects in the conductance and gating of GABAA receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome.

9. This study demonstrated that rescue of PTZ seizure threshold and thalamocortical oscillations in a Gabrg2+/Q390X KI mouse model of Dravet syndrome/GEFS+ by overexpression of wild-type gamma2HA subunits.

10. Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies.

11. This review suggest that the pathogenesis of GABRG2 mutations is likely to be due to a combination of reduction of channel function and disturbance of cellular homeostasis due to the presence of mutant protein.

12. Nova1 interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1's potential mechanism as an oncogene may due to its interaction with GABAA Rgamma2.

13. Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2+)-signalling was demonstrated in differentiating human DA neurons.

14. common variants of GABRG2, RELN and NRG3 and the GABRG2-RELN-PTCH1 interaction networks might confer altered susceptibility to Hirschsprung disease.

15. The gamma2 was the most abundant subunit in all rhombencephalic structures during development and in adults, whereas alpha subunits showed a structure- and age-characteristic distribution.

16. GABRG2, in combination with GABRA4, is associated with autism spectrum disorder in an Argentine dataset.

17. This study demonstrated that in vivo cortical and thalamic measurements in a mouse model of human genetic childhood absence epilepsy and febrile seizures carrying a point mutation in the gamma2 subunit of the GABA(A) receptor

18. Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors.

19. Mutant GABRG2 may be responsible for genetic epilepsy as well neurodegeneration.

20. Mutations of the GABRG2 gene may increase the risk of rolandic epilepsy.

Mouse (Murine) gamma-aminobutyric Acid (GABA) A Receptor, gamma 2 (GABRG2) interaction partners

1. deletion of Gabrg2 on dopamine cells induced several behavioral traits associated with high risk of developing alcoholism.

2. This study found that the inactivation of gamma2-mediated synapses does not impact oligodendrocyte precursors proliferation and differentiation or the propensity of oligodendrocyte precursors to myelinate their presynaptic interneurons.

3. The results of this study suggesting that mutations like GABRG2(Q390X) may alter brain thermal regulation and precipitate seizures during temperature elevations.

4. GABAA receptor (GABAAR) and the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1), but not the K(+)-Cl(-) cotransporter (KCC2), were expressed in the terminals of the CRH neurons at the median eminence (ME). In contrast, CRH neuronal somata were enriched with KCC2 but not with NKCC1.

5. This study demonstrated that the reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA gamma2 R43Q mouse model of absence epilepsy.

6. Heterozygous Gabrg2(+/Q390X) KI mice are associated with a severe epileptic encephalopathy due to a dominant negative effect of the mutation, while heterozygous Gabrg2(+/-) KO mice are associated with mild absence epilepsy due to simple haploinsufficiency.

7. This investigation demonstrates striking interfacial GABAA receptor subunit selectivity in the native milieu, suggesting that asymmetric occupancy of heteropentameric ion channels by alkylphenol-based anesthetics is sufficient to induce modulation of activity.

8. This study describes a novel mechanism that regulates plasma receptor pools in the control of synaptic receptor density.

9. Neurotoxins from Snake Venoms and alpha-Conotoxin ImI Inhibit Functionally Active Ionotropic gamma-Aminobutyric Acid (GABA) Receptors

10. Study shows that the down-regulation of the gamma2 subunit of postsynaptic GABAARs in NG2 cells that accompanies the postnatal switch from synaptic to extrasynaptic GABAergic transmission between interneurons and these cells in the barrel cortex

11. Dendritic spine abnormalities of Gabrg2+/- mice suggest association of functional defects in glutamatergic transmission with the established anxious-depressive phenotype of these mice

12. results suggest that the g2(R43Q) mutation significantly affects cortical microcircuitry in the cerebral cortex.

13. KIF21B participates in the delivery of GABAAR transport vesicles into dendrites.

14. The gamma2 subunits (of GABA A receptors) cell surface levels were decreased by mutating each of the Beta2 subunit glycosylation sites.

15. These results indicate that thalamic deltaGABAARs promote electrocortical signatures of deep NREM sleep, but do not mediate the effects of etomidate at the thalamus in vivo.

16. The data of this study demonstrate the presence of IPSCs and the synaptic enrichment of the alpha1 and beta3 subunits and suggest that the gamma3 subunit is the most likely candidate for clustering GABAARs at synapses in the absence of the gamma2 subunit.

17. The study demonstrates the molecular and functional diversity of the GABAAR system within the mouse colon providing a framework for developing GABAAR-based therapeutics in GI disorders.

18. these findings suggest that gephyrin may be a key factor in BDNF-dependent GABAAR regulation in the amygdala.

19. This study showed that oscillatory activity in thalamic circuits is under the control of inhibition that involves gamma2 subunit-independent GABA-ARs

20. Tyrosine phosphorylation of GABAA receptor gamma2-subunit regulates tonic and phasic inhibition in the Lateral Geniculate Body in mice.