| Tclin | Gamma-aminobutyric acid receptor subunit alpha-1 |
Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel (By similarity).
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| ependymoma | 2514 | 1.6e-23 |
| atypical teratoid / rhabdoid tumor | 4369 | 1.8e-19 |
| oligodendroglioma | 2849 | 5.5e-19 |
| pilocytic astrocytoma | 3086 | 5.5e-12 |
| pediatric high grade glioma | 2712 | 7.9e-09 |
| glioblastoma | 5572 | 1.4e-08 |
| medulloblastoma, large-cell | 6234 | 8.8e-07 |
| primitive neuroectodermal tumor | 3031 | 1.5e-06 |
| medulloblastoma | 1524 | 1.2e-05 |
| astrocytic glioma | 2241 | 1.6e-03 |
| subependymal giant cell astrocytoma | 2287 | 3.1e-03 |
| Parkinson's disease | 364 | 3.8e-02 |
| Pick disease | 1893 | 4.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Juvenile myoclonic epilepsy | 17 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alcohol dependence | 107 | 3.408 | 1.7 |
| Disease | Target Count |
|---|---|
| Epilepsy, childhood absence 4 | 1 |
| Epilepsy, idiopathic generalized 13 | 1 |
| Juvenile myoclonic epilepsy 5 | 1 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -3.500 | 1.6e-03 |
| ependymoma | -6.100 | 1.6e-23 |
| oligodendroglioma | -3.400 | 5.5e-19 |
| glioblastoma | -6.700 | 1.4e-08 |
| medulloblastoma | -4.900 | 1.2e-05 |
| atypical teratoid / rhabdoid tumor | -7.100 | 1.8e-19 |
| medulloblastoma, large-cell | -5.000 | 8.8e-07 |
| primitive neuroectodermal tumor | -6.200 | 1.5e-06 |
| Parkinson's disease | -1.400 | 3.8e-02 |
| pediatric high grade glioma | -5.600 | 7.9e-09 |
| pilocytic astrocytoma | -5.900 | 5.5e-12 |
| subependymal giant cell astrocytoma | -4.894 | 3.1e-03 |
| Pick disease | -2.100 | 4.6e-02 |
CHEMBL2163548
pIC50 5.42
CHEMBL505497
pKi 5.42
CHEMBL146317
pEC50 5.66
CHEMBL471115
pKi 5.69
CHEMBL443736
pKi 5.73
CHEMBL511685
pKi 5.80
CHEMBL461925
pIC50 6.00
CHEMBL45346
pKi 6.04
CHEMBL485829
pKd 6.06
CHEMBL458144
pIC50 6.24
CHEMBL511684
pIC50 6.24
CHEMBL344120
pEC50 6.26
CHEMBL459031
pKi 6.30
CHEMBL461511
pKi 6.30
CHEMBL483158
pIC50 6.31
CHEMBL458317
pIC50 6.33
CHEMBL499964
pKi 6.34
CHEMBL458321
pKi 6.39
CHEMBL259084
pIC50 6.48
CHEMBL343471
pEC50 6.52
| PMID | Text | |
|---|---|---|
| 26945068 | This study clarifies a Grp94-mediated ERAD pathway for GABAA receptors, which provides a novel way to finely tune their function in physiological and pathophysiological conditions. | |
| 26918889 | GABRA1 missense mutations were linked to early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome. | |
| 26321868 | Both GABAAalpha1 and GABAArho1 mRNAs and proteins were identified in cultured retinal pigment epithelial cells; antibody staining was mainly localized to the cell membrane and was also present in the cytoplasm but not in the nucleus. | |
| 26249742 | Polymorphism rs4263535 in GABRA1 intron 4 was associated with deeper sedation by intravenous midazolam. | |
| 26016529 | The role of the N-terminal extension and putative alpha-helix in heteromeric alpha1beta2gamma2 GABAA receptors was most prominent in the alpha1 subunit. Deletion reduced the number of functional receptors. | |
| 25675822 | It is a neurotransmitter and plays a role in chloride ion influx of neurons by binding to GABA-A receptors. | |
| 25453062 | Tobacco smoking, but not nicotine interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal. | |
| 25437558 | These results suggest that ARG1 and GABA influence both neural development and neuroblastoma and that benzodiazepines in clinical use may have potential applications for neuroblastoma therapy. | |
| 25086038 | Propofol, AziPm, and o-PD Inhibit [3H]Azietomidate and R-[3H]mTFD-MPAB Photolabeling of alpha1beta3 GABAAR. | |
| 24923912 | Putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex. | |
| 24623842 | GABRA1 and STXBP1 make a significant contribution to Dravet syndrome | |
| 24199598 | Data suggest that GABA(A) receptor subunits (alpha-1 and beta-3) are able to form homologous receptors with either delta (extrasynaptic) or gamma-2 subunits (synaptic); allosteric modulation appears similar in the presence of agonist etomidate. | |
| 23917429 | This study demonstrates altered patterns of N-glycosylation of GABRA1 in the temporal lobe in schizophrenia. | |
| 23756480 | Genome-wide association studies identify GABRA1 mutation releated to juvenile myoclonic epilepsy. | |
| 23677991 | Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human alpha1beta3gamma2 gamma-aminobutyric acid type A (GABAA) receptor. | |
| 23372267 | The finding reveals that the A15G variant at the GABA(A) alpha1 receptor subunit gene confers a high risk of zolpidem-induced complex sleep behaviors in Han Chinese. | |
| 23308109 | Presented is a full-length alpha(1)beta(2)gamma(2) GABA(A) receptor model optimized for agonists and benzodiazepine allosteric modulators. | |
| 23266428 | Report additive inhibition of human alpha1beta2gamma2 GABAA receptors by mixtures of commonly used drugs of abuse. | |
| 22883737 | The SNP rs2081648 in GABAA receptor gene may be related to autism. No evidence for significant association between rs140682 and rs140679 polymorphisms and autism was found. | |
| 22563490 | Data show that vasoactive peptide urotensin II receptor and GABA(A)R are co-expressed in cerebellar glial cells from rat brain slices, in human native astrocytes and in glioma cell line. | |
| 22470130 | upregulation of miR-155 in glioblastoma may downregulate GABRA1 which renders tumor cells unresponsive to GABA signaling. | |
| 22393585 | In cases of tramadol-induced death, the expression of GABA(A)alpha1 and GABA(B)1 significantly increased in the medulla oblongata solitary nucleus and ambiguous nucleus. | |
| 22243422 | Photoaffinity labeling and pepetide mapping data suggest that a homologous etomidate/general anesthetic binding site exists at the beta3-beta3 subunit interface in alpha1beta3 GABA receptor type A, specifically involving beta3-Met227. | |
| 22214903 | Characterisation of the contribution of the GABA-benzodiazepine alpha1 receptor subtype to [(11)C]Ro15-4513 PET images. | |
| 22080424 | In comparison to healthy donors, chronic hepatitis C patients were found to present an increase in the expression of gamma-aminobutyric acid A receptor alpha1 subunit and a decrease in the expression of beta3 subunit in their blood mononuclear leukocytes. | |
| 22038115 | Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues. | |
| 21903587 | M3-M4 intracellular loop subdomains control specific aspects of gamma-aminobutyric acid type A receptor function | |
| 21751815 | Data indicate the selectivity of some selected compounds were assessed in recombinant alpha(1)beta(2)gamma(2)L, alpha(2)beta(1)gamma(2)L, and alpha(5)beta(2)gamma(2)L GABA(A) receptors. | |
| 21729720 | Drugs of abuse directly modulate activity of human alpha(1)beta(2)gamma(2) GABA(A) receptor. | |
| 21714819 | Results report the identification of three novel mutations in two GABAA receptor subunits, GABRA1 and GABRG2, found in patients with idiopathic generalized epilepsy. | |
| 21677653 | In schizophrenic subjects, mean GABA(A) receptor alpha1 subunit mRNA expression is significantly 40% lower in pyramidal cells but is not altered in interneurons. | |
| 21343285 | GABA(A) receptor dynamics are regulated by interaction with purinergic P2X(2) receptors | |
| 21209255 | alpha1Arg120 and beta2Asp163 form a state-dependent salt bridge, interacting when GABA is bound to the receptor but not when the receptor is in the unbound state. | |
| 21057732 | Studies indicate that the GABA(A) receptor is underexpressed in the fragile X syndrome and raised hopes for targeted therapy of the disorder. | |
| 20940303 | PKC-dependent phosphorylation of the alpha4 subunit plays a significant role in enhancing the cell surface stability and activity of GABA(A)R subtypes that mediate tonic inhibition | |
| 20848605 | GABA-A receptor subunit alpha1 is not involved in amygdala hyperexcitability of patients with temporal lobe epilepsy. | |
| 20843900 | In subjects with schizophrenia, mean GABA(A) alpha1 receptor subunit mRNA expression is 17% lower in layers 3 and 4 of the dorsolateral prefrontal cortex. | |
| 20692323 | The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls | |
| 20628086 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | |
| 20583128 | Observational study of gene-disease association. (HuGE Navigator) | |
| 20551311 | transfected into neurons, the mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy altered the time course of miniature inhibitory postsynaptic current kinetics and reduced miniature inhibitory postsynaptic current amplitudes | |
| 20468064 | Observational study of gene-disease association. (HuGE Navigator) | |
| 20427410 | Results show diffuse or focal GABA-A receptor density reduction associated with cognitive defects in systemic lupus erythematosus patients. | |
| 20356767 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | |
| 20132297 | GABRA1 subunit expression decreases with age in patient with pediatric epilepsy. | |
| 20083606 | Numerous classes of general anesthetics inhibit etomidate binding to gamma-aminobutyric acid type A (GABAA) receptors | |
| 19944766 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19913121 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19705103 | Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. | |
| 19219857 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19086053 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19078961 | Observational study of gene-disease association. (HuGE Navigator) | |
| 18922788 | BDNF- and seizure-dependent phosphorylation of STAT3 cause the adenosine 3',5'-monophosphate (cAMP) response element-binding protein (CREB) family member ICER (inducible cAMP early repressor) to bind with phosphorylated CREB at the Gabra1:CRE site. | |
| 18821008 | Data show that GABRA1 is significantly altered in cerebellum and superior frontal cortex, and significant reductions in parietal cortex in subjects with autism. | |
| 18818659 | results suggest that there are likely to be independent, complex contributions from both GABRG1 and GABRA2 to alcoholism vulnerability based on the genotyping of 24 GABRG1 and GABRA2 SNPs in Finnish Caucasian men and Plains Indian men and women. | |
| 18723504 | the Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly | |
| 18639864 | Increased expression of DNMT-3B mRNA and protein in the frontopolar cortex of suicide victims was correlated with increased DNA methylation of the GABAA receptor alpha(1) subunit. | |
| 18534981 | GABAA receptor alpha1-subunit epilepsy mutation A322D results in receptors that are inserted into the plasma membrane but are more rapidly endocytosed by a dynamin and caveolin1-dependent mechanism | |
| 18292428 | Using wild type/mutated receptor subunits to identify compounds with anesthetic effect. | |
| 18197653 | built homology models of the ion pores of alpha1beta2 and alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic acetylcholine receptor as a template to determine details about the zinc binding site | |
| 17972043 | In this case of juvenile myoclonic epilepsy , A molecular genetic analysis led to the identification of a polymorphism (T-->C) of the exon of the GABRA1 gene, without aminoacidic exchange. | |
| 17880575 | Observational study of gene-disease association. (HuGE Navigator) | |
| 17880575 | study found mutations of GABRA1, GABRB3, and GABRG2 appear not to play a major role in the development of familial primary dystonia | |
| 17670950 | The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. | |
| 17440936 | Observational study of gene-disease association. (HuGE Navigator) | |
| 17360668 | An intrinsic deficiency of GABA(A) receptor endogenous phosphorylation results in an increased lability of GABAergic currents in neurons isolated from epileptogenic human tissue. | |
| 17011586 | the prefrontal and temporal cortex of ALS patients, we detected significantly reduced mRNA expression of the alpha1-subunit, while the GABA synthesizing enzyme glutamic acid decarboxylase (GAD) was significantly upregulated in these regions. | |
| 16839746 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16792556 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16792556 | association between GABRA1 and alcohol dependence, history of blackouts, age at first drunkenness, and level of response to alcohol | |
| 16778401 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16778401 | polymorphisms of the GABAA alpha1 and GABAA alpha6 receptor gene may be associated with the development of alcoholism and the GG genotype of the GABAA alpha1 receptor may cause early onset and a severe type of alcoholism | |
| 16770606 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16627470 | a conserved lysine in the TM2-3 of alpha1, beta2, and gamma2 of the GABA-A receptor has an asymmetric function in different GABAA subunits | |
| 16569738 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16530959 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16530959 | Since the 156T>C variant appears to be not pathogenically relevant, our results suggest that missense, nonsense or splice site mutation in the coding region of the GABRA1 gene is not a major genetic cause of ET in Caucasian subjects. | |
| 16412095 | Models of GABA(A) receptors composed of alpha1 beta3 gamma2 subunits were generated and were used for predicting putative engineered cross-link sites between the alpha1 and the gamma2 subunit. | |
| 16294320 | Derepression of GABAAR-alpha1 expression upon downregulation of c-myc represents a unique apoptotic mechanism and a distinct function for the alpha1 subunit, independent of its role as a component of the GABAAR in the plasma membrane. | |
| 16172613 | Observational study of gene-disease association. (HuGE Navigator) | |
| 16123039 | The mechanism of reduced total and surface alpha1 subunit expression associated with an aspartate substitution in the GABA-A receptor alpha1 subunit is reported. | |
| 16029191 | The A322D mutation leads to a severe loss-of-function of the human GABAA receptor by several mechanisms, including reduced surface expression, reduced GABA-sensitivity, and accelerated deactivation. | |
| 15955415 | Observational study of genotype prevalence. (HuGE Navigator) | |
| 15542698 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | |
| 15201329 | whole-cell currents and protein expression of heterozygous 1(A322D)2S2S receptors depended on the position of the mutant 1 subunit | |
| 15196679 | alpha1 and alpha6 subunits immobilize recombinant GABA A receptor in transfected cells | |
| 15033447 | extracellular domain models show subunit arrangement of GABA-A receptors | |
| 15016806 | Two etomidate sites allosterically enhance GABA(A) receptor subunit gating independently of agonist binding. | |
| 14996540 | The mutated (A294D) GABAA receptor alpha 1 subunit reduces GABA sensitivity of the receptor, increases the deactivation rate and slows desensitization, causing a reduction in channel open time but no change in single channel conductance. | |
| 14961561 | GABA acts through GABA(A) receptors containing the alpha(1) subunit on specific striatal GABAergic interneurons and on output neurons of the globus pallidus and substantia nigra pars reticulata. | |
| 14706423 | Observational study of gene-disease association. (HuGE Navigator) | |
| 14631097 | Observational study of gene-disease association. (HuGE Navigator) | |
| 14625018 | Properties of recombinant GABRA1 receptor vary significantly from one expression system to another most likely due to differences in endogenous modulators. | |
| 14569258 | Among polymorphic SNPs, significant differences between methamphetamine users and controls are found in the female sample of GABA(A)alpha1 subunit gene, and the novel SNP in the GABA(A)gamma2 subunit gene. No associations were found in the male sample. | |
| 12645817 | Observational study of gene-disease association. (HuGE Navigator) | |
| 12529644 | Optimal gating is dependent on electrostatic interactions between the negatively charged Asp 57 and Asp 149 residues in extracellular loops 2 and 7, and the positively charged Lys 279 residue in the transmembrane 2-3 linker region of the alpha1-subunit | |
| 12367612 | a role for tryptophan (Trp) residues at the extracellular end of fourth transmembrane segment(TM4) in anesthetic modulation of GABA(A) receptors. | |
| 12367595 | using full-length or truncated chimeric subunits it was demonstrated that homologous sequences from alpha 1 are important for assembly of GABA(A) receptors composed of alpha(1), beta(3), and gamma(2) subunits | |
| 12232773 | Observational study of gene-disease association. (HuGE Navigator) | |
| 12225856 | modeling of molecular configuration | |
| 12210273 | Observational study of gene-disease association. (HuGE Navigator) | |
| 11140838 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKT 1 - 70 DIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMT 71 - 140 MPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE 141 - 210 DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVP 211 - 280 ARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVV 281 - 350 PEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID 351 - 420 RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ 421 - 456 //
| PMID | Year | Title | |
|---|---|---|---|
| 26945068 | 2016 | Grp94 Protein Delivers ?-Aminobutyric Acid Type A (GABAA) Receptors to Hrd1 Protein-mediated Endoplasmic Reticulum-associated Degradation. | |
| 26918889 | 2016 | De novo GABRA1 mutations in Ohtahara and West syndromes. | |
| 26321868 | 2015 | GABAA?1 and GABAA?1 subunits are expressed in cultured human RPE cells and GABAA receptor agents modify the intracellular calcium concentration. | |
| 26249742 | 2015 | Polymorphism rs4263535 in GABRA1 intron 4 was related to deeper sedation by intravenous midazolam. | |
| 26016529 | 2015 | Assembly, trafficking and function of ?1?2?2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner. | |
| 25675822 | 2014 | [Excitatory GABA signaling in epilepsy]. | |
| 25453062 | 2014 | Tobacco smoking interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal. | |
| 25437558 | 2014 | Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma. | |
| 25086038 | 2014 | Multiple propofol-binding sites in a ?-aminobutyric acid type A receptor (GABAAR) identified using a photoreactive propofol analog. | |
| 24923912 | 2014 | Identification of a novel protein complex containing ASIC1a and GABAA receptors and their interregulation. | |
| 24623842 | 2014 | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | |
| 24199598 | 2014 | Etomidate produces similar allosteric modulation in ?1?3? and ?1?3?2L GABA(A) receptors. | |
| 23917429 | 2014 | N-Glycosylation of GABAA receptor subunits is altered in Schizophrenia. | |
| 23756480 | 2013 | The quest for juvenile myoclonic epilepsy genes. | |
| 23677991 | 2013 | Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human ?1?3?2 ?-aminobutyric acid type A (GABAA) receptor. | |
| 23372267 | 2013 | Association between GABA(A) receptor subunit gene cluster and zolpidem-induced complex sleep behaviors in Han Chinese. | |
| 23308109 | 2013 | A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites. | |
| 23266428 | 2013 | Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse. | |
| 22883737 | 2012 | [Relationship between gene polymorphism of GABAA receptors gene and childhood autism]. | |
| 22563490 | 2012 | Down-regulation of GABA(A) receptor via promiscuity with the vasoactive peptide urotensin II receptor. Potential involvement in astrocyte plasticity. | |
| 22470130 | 2012 | miR-155 is up-regulated in primary and secondary glioblastoma and promotes tumour growth by inhibiting GABA receptors. | |
| 22393585 | 2011 | [The expression of GABA(A) receptor alpha1 and GABA(B) receptor 1 in medulla oblongata solitary nucleus and ambiguous nucleus in the cases of tramadol intoxication]. | |
| 22243422 | 2012 | Mapping general anesthetic binding site(s) in human ?1?3 ?-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue. | |
| 22214903 | 2012 | Characterisation of the contribution of the GABA-benzodiazepine ?1 receptor subtype to [(11)C]Ro15-4513 PET images. | |
| 22080424 | 2012 | The altered expression of ?1 and ?3 subunits of the gamma-aminobutyric acid A receptor is related to the hepatitis C virus infection. | |
| 22038115 | 2012 | Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer. | |
| 21903587 | 2011 | Discrete M3-M4 intracellular loop subdomains control specific aspects of ?-aminobutyric acid type A receptor function. | |
| 21751815 | 2011 | New insight into the central benzodiazepine receptor-ligand interactions: design, synthesis, biological evaluation, and molecular modeling of 3-substituted 6-phenyl-4H-imidazo[1,5-a][1,4]benzodiazepines and related compounds. | |
| 21729720 | 2011 | Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse. | |
| 21714819 | 2011 | Novel ?1 and ?2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy. | |
| 21677653 | 2011 | Selective pyramidal cell reduction of GABA(A) receptor ?1 subunit messenger RNA expression in schizophrenia. | |
| 21343285 | 2011 | Regulation of GABA(A) receptor dynamics by interaction with purinergic P2X(2) receptors. | |
| 21209255 | 2011 | A state-dependent salt-bridge interaction exists across the ?/? intersubunit interface of the GABAA receptor. | |
| 21057732 | 2010 | Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome. | |
| 20940303 | 2010 | Protein kinase C phosphorylation regulates membrane insertion of GABAA receptor subtypes that mediate tonic inhibition. | |
| 20848605 | 2012 | Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy. | |
| 20843900 | 2011 | Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia. | |
| 20692323 | 2010 | Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex. | |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | |
| 20583128 | 2010 | Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. | |
| 20551311 | 2010 | GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. | |
| 20468064 | 2010 | Association study of 182 candidate genes in anorexia nervosa. | |
| 20427410 | 2010 | Defective cerebral gamma-aminobutyric acid-A receptor density in patients with systemic lupus erythematosus and central nervous system involvement. An observational study. | |
| 20356767 | 2010 | Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population. | |
| 20132297 | 2010 | Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy. | |
| 20083606 | 2010 | Numerous classes of general anesthetics inhibit etomidate binding to gamma-aminobutyric acid type A (GABAA) receptors. | |
| 19944766 | 2010 | A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. | |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | |
| 19705103 | 2009 | Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. | |
| 19219857 | 2009 | Genetic association studies of methamphetamine use disorders: A systematic review and synthesis. | |
| 19086053 | 2009 | Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. | |
| 19078961 | 2010 | Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. | |
| 18922788 | 2008 | BDNF selectively regulates GABAA receptor transcription by activation of the JAK/STAT pathway. | |
| 18821008 | 2009 | GABA(A) receptor downregulation in brains of subjects with autism. | |
| 18818659 | 2009 | GABRG1 and GABRA2 as independent predictors for alcoholism in two populations. | |
| 18723504 | 2008 | A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly. | |
| 18639864 | 2008 | GABAA receptor promoter hypermethylation in suicide brain: implications for the involvement of epigenetic processes. | |
| 18534981 | 2008 | Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. | |
| 18292428 | 2008 | The anesthetic-like effects of diverse compounds on wild-type and mutant gamma-aminobutyric acid type A and glycine receptors. | |
| 18197653 | 2008 | Molecular modeling and mutagenesis reveals a tetradentate binding site for Zn2+ in GABA(A) alphabeta receptors and provides a structural basis for the modulating effect of the gamma subunit. | |
| 17972043 | 2007 | Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. | |
| 17880575 | 2007 | Screening of GABA(A)-receptor gene mutations in primary dystonia. | |
| 17670950 | 2007 | The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation. | |
| 17440936 | 2007 | Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. | |
| 17360668 | 2007 | Dysfunction of GABAA receptor glycolysis-dependent modulation in human partial epilepsy. | |
| 17011586 | 2006 | GABA(A)-receptor mRNA expression in the prefrontal and temporal cortex of ALS patients. | |
| 16839746 | 2006 | Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. | |
| 16792556 | 2006 | Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample. | |
| 16778401 | 2006 | Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. | |
| 16770606 | 2006 | Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. | |
| 16718694 | 2006 | A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. | |
| 16627470 | 2006 | An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits. | |
| 16569738 | 2006 | Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities. | |
| 16530959 | 2006 | Genetic analysis of the GABRA1 gene in patients with essential tremor. | |
| 16412095 | 2006 | Identification of amino acid residues important for assembly of GABA receptor alpha1 and gamma2 subunits. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 16294320 | 2006 | The alpha1 subunit of GABAA receptor is repressed by c-myc and is pro-apoptotic. | |
| 16172613 | 2005 | Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. | |
| 16123039 | 2005 | Endoplasmic reticulum retention and associated degradation of a GABAA receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha1 subunit. | |
| 16029191 | 2005 | Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. | |
| 15955415 | 2005 | Mutation screen of GABRA1, GABRB2 and GABRG2 genes in Japanese patients with absence seizures. | |
| 15542698 | 2004 | Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15201329 | 2004 | The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression. | |
| 15196679 | 2004 | GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells. | |
| 15033447 | 2004 | Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5. | |
| 15016806 | 2004 | Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation. | |
| 14996540 | 2004 | A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties. | |
| 14961561 | 2004 | Comparative cellular distribution of GABAA and GABAB receptors in the human basal ganglia: immunohistochemical colocalization of the alpha 1 subunit of the GABAA receptor, and the GABABR1 and GABABR2 receptor subunits. | |
| 14706423 | 2004 | Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders. | |
| 14631097 | Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. | ||
| 14625018 | 2003 | Recombinant alpha 1 beta 2 gamma 2 GABA(A) receptors expressed in HEK293 and in QT6 cells show different kinetics. | |
| 14569258 | 2003 | Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder. | |
| 12645817 | 2003 | Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients. | |
| 12529644 | 2003 | Coupling of agonist binding to channel gating in the GABA(A) receptor. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 12367612 | 2002 | Tryptophan scanning mutagenesis in TM4 of the GABA(A) receptor alpha1 subunit: implications for modulation by inhaled anesthetics and ion channel structure. | |
| 12367595 | 2002 | Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. | |
| 12232773 | 2002 | Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. | |
| 12225856 | 2002 | Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. | |
| 12210273 | 2002 | Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia. | |
| 12091471 | 2002 | Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption. | |
| 11992121 | 2002 | Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. | |
| 11140838 | 2000 | A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory. | |
| 10512150 | 1999 | Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders. | |
| 10449790 | 1999 | theta, a novel gamma-aminobutyric acid type A receptor subunit. | |
| 10050966 | 1999 | No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses. | |
| 9655866 | 1998 | Maintenance of recombinant type A gamma-aminobutyric acid receptor function: role of protein tyrosine phosphorylation and calcineurin. | |
| 9039914 | 1997 | Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit. | |
| 8175718 | 1994 | gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. | |
| 8133292 | 1994 | Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene. | |
| 8125298 | 1994 | Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. | |
| 2847710 | 1988 | Isolation of a cDNA clone for the alpha subunit of the human GABA-A receptor. | |
| 2465923 | 1989 | Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. | |
| 1330891 | 1992 | Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis. |
