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

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

3. 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.

4. 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.

5. Study utilized targeted next-gen (显示 GEN1 抗体) 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 (显示 IL1RN 抗体) (86-bp VNTR), IL10 (显示 IL10 抗体) (rs1900872), PTGS2 (显示 PTGS2 抗体) (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined.

6. This study identified a missense de novo mutation in the GABAA (显示 GABRg1 抗体) 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 (显示 GABRg1 抗体) receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome.

7. 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.

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

9. 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.

10. Nova1 (显示 NOVA1 抗体) interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1 (显示 NOVA1 抗体)'s potential mechanism as an oncogene (显示 RAB1A 抗体) may due to its interaction with GABAA (显示 GABRg1 抗体) Rgamma2.

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

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

2. GABAA (显示 GABRg1 抗体) receptor (GABAAR) and the Na(+)-K(+)-2Cl(-) cotransporter (显示 SLC12A1 抗体) (NKCC1 (显示 SLC12A2 抗体)), but not the K(+)-Cl(-) cotransporter (显示 SLC12A4 抗体) (KCC2 (显示 SLC12A5 抗体)), were expressed in the terminals of the CRH (显示 CRH 抗体) neurons at the median eminence (ME). In contrast, CRH (显示 CRH 抗体) neuronal somata were enriched with KCC2 (显示 SLC12A5 抗体) but not with NKCC1 (显示 SLC12A2 抗体).

3. This study demonstrated that the reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA (显示 GABRg1 抗体) gamma2 R43Q mouse model of absence epilepsy.

4. 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.

5. This investigation demonstrates striking interfacial GABAA (显示 GABRg1 抗体) 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.

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

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

8. KIF21B (显示 KIF21B 抗体) participates in the delivery of GABAAR transport vesicles into dendrites.

9. 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.

10. these findings suggest that gephyrin (显示 GPHN 抗体) may be a key factor in BDNF (显示 BDNF 抗体)-dependent GABAAR regulation in the amygdala.