Property Summary

NCBI Gene PubMed Count 114
PubMed Score 55.72
PubTator Score 97.18

Knowledge Summary

Patent (2,369)

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
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

Expression

  Differential Expression (13)

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

Protein-protein Interaction (7)

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
434974 screening 0 / 0 / 0 Late-stage radioligand binding assay to identify inhibitors of NADPH oxidase 1 (NOX1): PDSP screen

Gene RIF (102)

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)

AA Sequence

MRKSPGLSDCLWAWILLLSTLTGRSYGQPSLQDELKDNTTVFTRILDRLLDGYDNRLRPGLGERVTEVKT      1 - 70
DIFVTSFGPVSDHDMEYTIDVFFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGKKSVAHNMT     71 - 140
MPNKLLRITEDGTLLYTMRLTVRAECPMHLEDFPMDAHACPLKFGSYAYTRAEVVYEWTREPARSVVVAE    141 - 210
DGSRLNQYDLLGQTVDSGIVQSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVP    211 - 280
ARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGYAWDGKSVV    281 - 350
PEKPKKVKDPLIKKNNTYAPTATSYTPNLARGDPGLATIAKSATIEPKEVKPETKPPEPKKTFNSVSKID    351 - 420
RLSRIAFPLLFGIFNLVYWATYLNREPQLKAPTPHQ                                      421 - 456
//

Text Mined References (115)

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.