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GABRG2 encodes a gamma-aminobutyric acid (GABA) receptor. Zusätzlich bieten wir Ihnen GABRG2 Antikörper (117) und GABRG2 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
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 (zeige IL1RN ELISA Kits) (86-bp VNTR), IL10 (zeige IL10 ELISA Kits) (rs1900872), PTGS2 (zeige PTGS2 ELISA Kits) (8 SNPs, rs689465, rs689466, rs20417, rs13306038, rs201931599, rs689470, rs4648306 and rs4648308) with FS was also examined.
This study identified a missense de novo mutation in the GABAA (zeige GABRg1 ELISA Kits) 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 (zeige GABRg1 ELISA Kits) receptors, which results in hyperexcitability and contributes to the pathogenesis of the genetic epilepsy Dravet syndrome.
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.
Defects in GABRG2/GABAergic neurotransmission participate in the pathogenesis of genetic epilepsies including epileptic encephalopathies.
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.
Nova1 (zeige NOVA1 ELISA Kits) interacts with GABAARgamma2 not only in the central nervous system but also in hepatocellular carcinoma. Nova1 (zeige NOVA1 ELISA Kits)'s potential mechanism as an oncogene (zeige RAB1A ELISA Kits) may due to its interaction with GABAA (zeige GABRg1 ELISA Kits) Rgamma2.
Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca(2 (zeige CA2 ELISA Kits)+)-signalling was demonstrated in differentiating human DA neurons.
common variants of GABRG2, RELN (zeige RELN ELISA Kits) and NRG3 (zeige NRG3 ELISA Kits) and the GABRG2-RELN (zeige RELN ELISA Kits)-PTCH1 (zeige PTCH1 ELISA Kits) interaction networks might confer altered susceptibility to Hirschsprung disease.
GABRG2, in combination with GABRA4 (zeige GABRA4 ELISA Kits), is associated with autism spectrum disorder in an Argentine dataset.
Deletion of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA (zeige GABRg1 ELISA Kits) receptors in the gamma2 subunits reduced the number of functional receptors and incorporation into mature receptors.
GABAA (zeige GABRg1 ELISA Kits) receptor (GABAAR) and the Na(+)-K(+)-2Cl(-) cotransporter (zeige SLC12A1 ELISA Kits) (NKCC1 (zeige SLC12A2 ELISA Kits)), but not the K(+)-Cl(-) cotransporter (zeige SLC12A4 ELISA Kits) (KCC2 (zeige SLC12A5 ELISA Kits)), were expressed in the terminals of the CRH (zeige CRH ELISA Kits) neurons at the median eminence (ME). In contrast, CRH (zeige CRH ELISA Kits) neuronal somata were enriched with KCC2 (zeige SLC12A5 ELISA Kits) but not with NKCC1 (zeige SLC12A2 ELISA Kits).
This study demonstrated that the reduced local input to fast-spiking interneurons in the somatosensory cortex in the GABAA (zeige GABRg1 ELISA Kits) gamma2 R43Q mouse model of absence epilepsy.
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.
This investigation demonstrates striking interfacial GABAA (zeige GABRg1 ELISA Kits) 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.
Study shows that the down-regulation of the gamma2 subunit of postsynaptic GABAARs in NG2 (zeige Vcan ELISA Kits) cells that accompanies the postnatal switch from synaptic to extrasynaptic GABAergic transmission between interneurons and these cells in the barrel cortex
Dendritic spine abnormalities of Gabrg2+/- mice suggest association of functional defects in glutamatergic transmission with the established anxious-depressive phenotype of these mice
KIF21B (zeige KIF21B ELISA Kits) participates in the delivery of GABAAR transport vesicles into dendrites.
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.
these findings suggest that gephyrin (zeige GPHN ELISA Kits) may be a key factor in BDNF (zeige BDNF ELISA Kits)-dependent GABAAR regulation in the amygdala.
This study showed that oscillatory activity in thalamic circuits is under the control of inhibition that involves gamma2 subunit-independent GABA-ARs (zeige SLURP1 ELISA Kits)
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene.
gamma-aminobutyric acid A receptor, gamma 1
, GABA(A) receptor subunit gamma-2
, gamma-aminobutyric acid receptor subunit gamma-2
, gamma-aminobutyric acid A receptor gamma 2
, gamma-aminobutyric acid (GABA) A receptor, gamma 2
, gamma-aminobutyric acid receptor subunit gamma-2-like
, gamma-aminobutyric acid A receptor, gamma 2
, gamma-aminobutyric acid (GABA-A) receptor, subunit gamma 2
, gamma-aminobutyric acid A receptor, gamma 2
, GABA-A receptor gamma-2 subunit
, GABA(A) receptor, gamma 2