GABRA1

Summary

Gene Symbol: GABRA1
Description: gamma-aminobutyric acid type A receptor alpha1 subunit
Alias: ECA4, EIEE19, EJM, EJM5, gamma-aminobutyric acid receptor subunit alpha-1, GABA(A) receptor subunit alpha-1, GABA(A) receptor, alpha 1, gamma-aminobutyric acid (GABA) A receptor, alpha 1
Species: human
Products:     GABRA1

Top Publications

  1. Fatemi S, Reutiman T, Folsom T, Thuras P. GABA(A) receptor downregulation in brains of subjects with autism. J Autism Dev Disord. 2009;39:223-30 pubmed publisher
    ..We investigated the expression of four GABA(A) receptor subunits and observed significant reductions in GABRA1, GABRA2, GABRA3, and GABRB3 in parietal cortex (Brodmann's Area 40 (BA40)), while GABRA1 and GABRB3 were ..
  2. Gupta G, Sharma L. Bacopa monnieri abrogates alcohol abstinence-induced anxiety-like behavior by regulating biochemical and Gabra1, Gabra4, Gabra5 gene expression of GABAA receptor signaling pathway in rats. Biomed Pharmacother. 2019;111:1417-1428 pubmed publisher
    ..The expression of Gabra1, Gabra2, Gabra3, Gabra4, Gabra5 genes of the GABAA receptors subunits in the hippocampus as well as ..
  3. Hernandez C, Macdonald R. A structural look at GABAA receptor mutations linked to epilepsy syndromes. Brain Res. 2019;1714:234-247 pubmed publisher
    Understanding the genetic variation in GABAA receptor subunit genes (GABRs), GABRA1-6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the diagnosis and treatment of epilepsy syndromes through ..
  4. Ding L, Gallagher M. Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy. Epilepsia. 2016;57:1568-1580 pubmed publisher
    ..Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absence and myoclonic generalized seizures...
  5. Feng W, Mei S, Zhu L, Yu Y, Yang W, Gao B, et al. Effects of UGT1A6 and GABRA1 on Standardized Valproic Acid Plasma Concentrations and Treatment Effect in Children With Epilepsy in China. Ther Drug Monit. 2016;38:738-743 pubmed
    ..78-9.83, P = 0.024); therefore, patients with this variation need a lower dose of VPA. rs2279020 (GABRA1, G > A) was associated with a decreased risk of developing VPA-resistant epilepsy (odds ratio = 0...
  6. Hirose S. Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy. Prog Brain Res. 2014;213:55-85 pubmed publisher
    ..mutations or genetic variations of the genes encoding the α1, α6, β2, β3, γ2, or δ subunits (GABRA1, GABRA6, GABRB2, GABRB3, GABRG2, and GABRD, respectively) have been associated with human epilepsy, both with and ..
  7. Serretti A, Macciardi F, Cusin C, Lattuada E, Lilli R, Di Bella D, et al. No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses. Am J Med Genet. 1999;88:44-9 pubmed
    ..cohort of subjects to evaluate the gene for the gamma-aminobutyric acid type A (GABA(A)) receptor alpha-1 subunit (GABRA1)...
  8. Liu M, Fitzgibbon M, Wang Y, Reilly J, Qian X, O BRIEN T, et al. Ulk4 regulates GABAergic signaling and anxiety-related behavior. Transl Psychiatry. 2018;8:43 pubmed publisher
    ..including Pvalb, Sst, Cck, Npy, and Nos3, as well as significant upregulation of GABA receptors, including Gabra1, Gabra3, Gabra4, Gabra5, and Gabrb3...
  9. Pawar H, Balivada S, Kenney M. Does acute heat stress differentially-modulate expression of ionotropic neurotransmitter receptors in the RVLM of young and aged F344 rats?. Neurosci Lett. 2018;687:223-233 pubmed publisher
    ..to age-matched controls, heat stress increased the gene expression of RVLM inhibitory receptor subunits in aged (Gabra1, Gabra2, Gabra5, Glra1) and young (Gabra1) F344 rats at mRNA level, with little change in the expression of RVLM ..

More Information

Publications160 found, 100 shown here

  1. Sundararajan T, Manzardo A, Butler M. Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases. Gene. 2018;641:25-34 pubmed publisher
    ..g., GRIA1, GRIN2, GRIK4, GRM5), serotonergic receptors (e.g., HTR2A, HTR2C), GABAergic receptors (e.g., GABRA1, GABRB2), dopaminergic receptors (e.g., DRD1, DRD2), calcium-related channels (e.g...
  2. Mathieu A, Vacca A, Serra A, Cauli A, Porru G, Marrosu F, et al. Defective cerebral gamma-aminobutyric acid-A receptor density in patients with systemic lupus erythematosus and central nervous system involvement. An observational study. Lupus. 2010;19:918-26 pubmed publisher
    ..This study may support the concept that cognitive impairment in systemic lupus erythematosus could be the outcome of fine-tuned neurotransmission alterations. ..
  3. Loddenkemper T, Talos D, Cleary R, Joseph A, Sánchez Fernández I, Alexopoulos A, et al. Subunit composition of glutamate and gamma-aminobutyric acid receptors in status epilepticus. Epilepsy Res. 2014;108:605-15 pubmed publisher
    ..05) and α2/α1 (303%±86; p<0.01). Quantification of mRNA demonstrated an elevated GABRA2/GABRA1 ratio in refractory epilepsy (712; p<0.05) as compared to controls...
  4. Park Y, Choi J, Lee C, Kim S, Kim Y, Chang K, et al. Heterogeneity of tremor mechanisms assessed by tremor-related cortical potential in mice. Mol Brain. 2015;8:3 pubmed publisher
    ..recordings revealed that α1(-/-);α1G(-/-) mice double-null for the GABA receptor α1 subunit (Gabra1) and CaV3...
  5. Mo J, Wang B, Zhu X, Wu X, Liu Y. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats. Neurobiol Dis. 2019;121:274-285 pubmed publisher
    ..of glutamate receptor subunit GRIA1 are significantly increased in PRRT2 mutant rats, while GABA receptor subunits GABRA1 are significantly reduced...
  6. Ziegler E, Bodusch M, Song Y, Jahn K, Wolfes H, Steinlechner S, et al. Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. Naunyn Schmiedebergs Arch Pharmacol. 2009;380:277-91 pubmed publisher
    ..Our data clarify the role of steroid compounds in the modulation of inhibitory receptor channel function. ..
  7. Zhou C, Ding L, Deel M, Ferrick E, Emeson R, Gallagher M. Altered intrathalamic GABAA neurotransmission in a mouse model of a human genetic absence epilepsy syndrome. Neurobiol Dis. 2015;73:407-17 pubmed publisher
    We previously demonstrated that heterozygous deletion of Gabra1, the mouse homolog of the human absence epilepsy gene that encodes the GABAA receptor (GABAAR) α1 subunit, causes absence seizures...
  8. Manzardo A, McGuire A, Butler M. Clinically relevant genetic biomarkers from the brain in alcoholism with representation on high resolution chromosome ideograms. Gene. 2015;560:184-94 pubmed publisher
    ..g., DRD2, MAOA, and COMT), serotoninergic (e.g., HTR3A, HTR1B, HTR3B, and SLC6A4), GABAergic (e.g., GABRA1, GABRA2, and GABRG1), glutaminergic (GAD1, GRIK3, and GRIN2C) and opioid (e.g...
  9. Tögel M, Mossier B, Fuchs K, Sieghart W. gamma-Aminobutyric acidA receptors displaying association of gamma 3-subunits with beta 2/3 and different alpha-subunits exhibit unique pharmacological properties. J Biol Chem. 1994;269:12993-8 pubmed
    ..These data indicate that gamma 3-subunits can combine with most alpha-subunits to form a multiplicity of GABAA receptors with distinct pharmacology. ..
  10. Zhang S, Guan D, Wang L, Wang H, Zhang G, Zhao R, et al. [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]. Fa Yi Xue Za Zhi. 2011;27:401-4 pubmed
    ..The mechanism of tramadol intoxication death could be caused by respiratory depression induced by over-expression of GABA(A)alpha1 and GABA(B)1 in medulla oblongata solitary nucleus and ambiguous nucleus. ..
  11. Lin X, Wang R, Zhang J, Sun X, Zou Z, Wang S, et al. Insights into Human Astrocyte Response to H5N1 Infection by Microarray Analysis. Viruses. 2015;7:2618-40 pubmed publisher
    ..expressions related to the neuroactive ligand-receptor interaction pathway at 24 hpi, such as MC2R, CHRNG, P2RY13, GABRA1, and HRH2, which participant in synaptic transmission and may take part in CNS disorders induced by H5N1 infection...
  12. Zhang K, Zhao Y, Wang Q, Jiang H, Du J, Yu S, et al. Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese population. Neurosci Lett. 2016;622:37-44 pubmed publisher
    ..This report describes the first association study between the GABA system genes and amphetamine-induced psychotic disorder in the Han Chinese population. Our data may provide a reference for future research. ..
  13. Balan S, Yamada K, Iwayama Y, Hashimoto T, Toyota T, Shimamoto C, et al. Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia. Schizophr Res. 2017;185:33-40 pubmed publisher
    ..Two SNPs located in the GABRA1 gene, rs4263535 (Pallele=0.002; uncorrected) and rs1157122 (Pallele=0...
  14. Bradley C, Taghibiglou C, Collingridge G, Wang Y. Mechanisms involved in the reduction of GABAA receptor alpha1-subunit expression caused by the epilepsy mutation A322D in the trafficking-competent receptor. J Biol Chem. 2008;283:22043-50 pubmed publisher
    ..These results suggest that the mutant subunit can form functional receptors, but that these have a shorter lifetime on the plasma membrane. ..
  15. Craddock N, Jones L, Jones I, Kirov G, Green E, Grozeva D, et al. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. Mol Psychiatry. 2010;15:146-53 pubmed publisher
    ..Our method of phenotype refinement may be useful in studies of other complex psychiatric and non-psychiatric disorders. ..
  16. Di X, Wang Y, Han D, Fu Y, Duerfeldt A, Blagg B, et al. Grp94 Protein Delivers γ-Aminobutyric Acid Type A (GABAA) Receptors to Hrd1 Protein-mediated Endoplasmic Reticulum-associated Degradation. J Biol Chem. 2016;291:9526-39 pubmed publisher
    ..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. ..
  17. von Deimling M, Häsler R, Steinbach V, Holterhus P, von Spiczak S, Stephani U, et al. Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern. Epilepsy Res. 2017;132:84-90 pubmed publisher
    ..Previously known genes including GABRA1, GABRB3, GABRG2, and RCN2 showed evidence for up- or down-regulation in individual experiments, but were not ..
  18. Bhat M, Guru S, Mir R, Waza A, Zuberi M, Sumi M, et al. Association of GABAA Receptor Gene with Epilepsy Syndromes. J Mol Neurosci. 2018;65:141-153 pubmed publisher
    GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively...
  19. Balaram P, Hackett T, Polley D. Synergistic Transcriptional Changes in AMPA and GABAA Receptor Genes Support Compensatory Plasticity Following Unilateral Hearing Loss. Neuroscience. 2018;: pubmed publisher
    ..hybridization to quantify mRNA levels for genes encoding AMPA and GABAA receptor subunits (Gria2 and Gabra1, respectively) in single neurons from the inferior colliculus (IC) and auditory cortex (ACtx)...
  20. Butler K, da Silva C, Alexander J, Hegde M, Escayg A. Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. Pediatr Neurol. 2017;77:61-66 pubmed publisher
    ..were identified in multiple individuals included CDKL5, SCN2A, SCN8A, SCN1B, STXBP1, TPP1, PCDH19, CACNA1A, GABRA1, GRIN2A, SLC2A1, and TSC2. Sixteen additional genes had variants identified in single individuals...
  21. Feng H, Jounaidi Y, Haburcak M, Yang X, Forman S. Etomidate produces similar allosteric modulation in ?1?3? and ?1?3?2L GABA(A) receptors. Br J Pharmacol. 2014;171:789-98 pubmed publisher
    ..Reducing total mRNA unexpectedly increased ? subunit incorporation into receptors on oocyte plasma membranes. Our results favour homologous locations for ? and ?2L subunits in ?1?3?2/? GABA(A) receptors. ..
  22. Iwata H, Yamamuro Y. Subregional Expression of Hippocampal Glutamatergic and GABAergic Genes in F344 Rats with Social Isolation after Weaning. Comp Med. 2016;66:4-9 pubmed
    ..In contrast, pwSI tended to decrease the expression of GABAA receptor subunit genes, and Gabra1, Gabra2, Gabra4, Gabra5, Gabrb2, Gabrg1, and Gabrg2 were all significantly decreased in expression compared with ..
  23. Fisher J. A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties. Neuropharmacology. 2004;46:629-37 pubmed
    ..Therefore, production of the mutated subunit could cause global hyperexcitability throughout the brain, leading to generalized seizures with juvenile onset. ..
  24. Ding L, Feng H, Macdonald R, Botzolakis E, Hu N, Gallagher M. 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. J Biol Chem. 2010;285:26390-405 pubmed publisher
    ..These findings demonstrated that, in addition to causing a heterozygous loss of function of alpha1(AD) subunits, this epilepsy mutation also elicited a modest dominant negative effect that likely shapes the epilepsy phenotype. ..
  25. Yan W, Li L, Li G, Zhao S. Microcystin-LR induces changes in the GABA neurotransmitter system of zebrafish. Aquat Toxicol. 2017;188:170-176 pubmed publisher
    ..Significant increase of GABAA receptor, alpha 1 (gabra1), glutamate decarboxylase (gad1b), glutaminase (glsa) and reduction of mRNA expression of GABA transporter (gat1) ..
  26. Foley P, Loh E, Innes D, Williams S, Tannenberg A, Harper C, et al. Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. Ann N Y Acad Sci. 2004;1025:39-46 pubmed
    ..047), GABAA-beta2 1412C/C (P = .01), or EAAT2 603G/A (P = .022) genotypes. Combined DRD2TaqI A or B with GABAA-beta2 or EAAT2 G603A genotypes may have a concerted influence in the predisposition to alcoholism. ..
  27. Green E, Grozeva D, Moskvina V, Hamshere M, Jones I, Jones L, et al. Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:1347-9 pubmed publisher
    ..Here we provide suggestive evidence implicating a sixth member of the gene family, GABRR1 (gene-wide P = 0.0058; experiment-wide corrected significance P = 0.052). ..
  28. Osechkina N, Ivanov M, Nazarov G, Batotsyrenova E, Lapina N, Babkin A, et al. Assessment of Expression of Genes Coding GABAA Receptors during Chronic and Acute Intoxication of Laboratory Rats with Ethanol. Bull Exp Biol Med. 2016;160:452-4 pubmed publisher
    ..Acute exposure to ethanol elevated expression of genes Gabrb1 (by 1.7 times), Gabra1 (by 3.8 times), and Gabra4 (by 6.5 times), although it diminished expression of Gabra2 gene by 1.4 times...
  29. Baulac S, Baulac M. Advances on the genetics of mendelian idiopathic epilepsies. Neurol Clin. 2009;27:1041-1061 pubmed publisher
    ..dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies...
  30. Liu J, Tong L, Song S, Niu Y, Li J, Wu X, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11:48 pubmed publisher
    ..Other novel mutations detected in unclassified epilepsy patients involve the SCN8A, CACNA1A, GABRB3, GABRA1, IQSEC2, TSC1, VRK2, ATP1A2, PCDH19, SLC9A6 and CHD2 genes...
  31. Kash T, Jenkins A, Kelley J, Trudell J, Harrison N. Coupling of agonist binding to channel gating in the GABA(A) receptor. Nature. 2003;421:272-5 pubmed
    ..During gating, Asp 149 and Lys 279 seem to move closer to one another, providing a potential mechanism for the coupling of ligand binding to opening of the ion channel. ..
  32. Laschet J, Kurcewicz I, Minier F, Trottier S, Khallou Laschet J, Louvel J, et al. Dysfunction of GABAA receptor glycolysis-dependent modulation in human partial epilepsy. Proc Natl Acad Sci U S A. 2007;104:3472-7 pubmed
  33. Cosgrove K, McKay R, Esterlis I, Kloczynski T, Perkins E, Bois F, et al. Tobacco smoking interferes with GABAA receptor neuroadaptations during prolonged alcohol withdrawal. Proc Natl Acad Sci U S A. 2014;111:18031-6 pubmed publisher
    ..These data suggest that constituents in tobacco smoke other than nicotine block the recovery of GABAA receptor systems during sustained alcohol abstinence, contributing to alcohol relapse and the perpetuation of smoking. ..
  34. Bekdash R, Harrison N. Downregulation of Gabra4 expression during alcohol withdrawal is mediated by specific microRNAs in cultured mouse cortical neurons. Brain Behav. 2015;5:e00355 pubmed publisher
    ..Gabra4 was downregulated, with a modest increase in the expression of Gabrg2, but no change in the expression of Gabra1, Gabrd, or Gabrb2...
  35. Kodera H, Ohba C, Kato M, Maeda T, Araki K, Tajima D, et al. De novo GABRA1 mutations in Ohtahara and West syndromes. Epilepsia. 2016;57:566-73 pubmed publisher
    b>GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy...
  36. Zhang K, Wang Q, Jing X, Zhao Y, Jiang H, Du J, et al. miR-181a is a negative regulator of GRIA2 in methamphetamine-use disorder. Sci Rep. 2016;6:35691 pubmed publisher
    ..that miR-181a might bind the 3'-UTRs of the mRNA transcripts of the human glutamate receptor genes GRIA2 and GABRA1. In this study, we measured the expression of GRIA2 and GABRA1 in patients with methamphetamine-use disorder...
  37. Shang H, Lang D, Burgunder J, Kaelin Lang A. Screening of GABA(A)-receptor gene mutations in primary dystonia. Eur J Neurol. 2007;14:1179-81 pubmed
    ..In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA(A) receptor are involved in ..
  38. Lachance Touchette P, Choudhury M, Stoica A, Di Cristo G, Cossette P. Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner. Front Cell Neurosci. 2014;8:317 pubmed publisher
    ..In particular, we examined the effects of three mutations of the GABRA1 gene (D219N, A322D and K353delins18X) that were found in a cohort of French Canadian families with genetic ..
  39. Kato T. Testing the sexual imagination hypothesis for gender differences in response to infidelity. BMC Res Notes. 2014;7:860 pubmed publisher
    ..005, a power of .943). Our findings supported the sexual imagination hypothesis but were inconsistent with the EJM hypothesis.
  40. Sarto I, Wabnegger L, Dögl E, Sieghart W. Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly. Neuropharmacology. 2002;43:482-91 pubmed
    ..Finally, it was demonstrated that the sequences investigated cause a selective assembly with certain subunits only and thus influence subunit arrangement within GABA(A) receptors. ..
  41. Swanson A, Allen A, Shapiro L, Gourley S. GABAAα1-mediated plasticity in the orbitofrontal cortex regulates context-dependent action selection. Neuropsychopharmacology. 2015;40:1027-36 pubmed publisher
    ..Using in vivo viral-mediated gene silencing, we knocked down Gabra1 in the orbitofrontal prefrontal cortex (oPFC) in mice, decreasing oPFC GABAAα1 expression, as well as ..
  42. Deng H, Xie W, LE W, Huang M, Jankovic J. Genetic analysis of the GABRA1 gene in patients with essential tremor. Neurosci Lett. 2006;401:16-9 pubmed
    ..To determine whether ET is associated with the GABRA1 gene mutation, we screened 76 patients with familial ET and found a novel nucleotide variant: IVS8+24 G>T (nt ..
  43. Stojanovic T, Capo I, Aronica E, Adle Biassette H, Höger H, Sieghart W, et al. The α1, α2, α3, and γ2 subunits of GABAA receptors show characteristic spatial and temporal expression patterns in rhombencephalic structures during normal human brain development. J Comp Neurol. 2016;524:1805-24 pubmed publisher
    ..Interestingly, subunit expression in several instances differed between human and rodent brain, underlining the importance of immunohistochemical studies in humans. ..
  44. Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Huffmeier U, et al. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1. Eur J Med Genet. 2016;59:549-53 pubmed publisher
    ..Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy...
  45. Lin S, Chen C, Ball D, Liu H, Loh E. Gender-specific contribution of the GABA(A) subunit genes on 5q33 in methamphetamine use disorder. Pharmacogenomics J. 2003;3:349-55 pubmed
    ..Our study provides preliminary evidence that the GABA(A) subunit genes on 5q33 may preferentially contribute to methamphetamine use disorder in females. ..
  46. Glausier J, Lewis D. Selective pyramidal cell reduction of GABA(A) receptor ?1 subunit messenger RNA expression in schizophrenia. Neuropsychopharmacology. 2011;36:2103-10 pubmed publisher
  47. Raud S, Reimets R, Loomets M, Sütt S, Altpere A, Visnapuu T, et al. Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. Neuropharmacology. 2015;95:59-67 pubmed publisher
    ..No changes were detected in Gabra1 and Gabra3 mRNA following ethanol treatment...
  48. Choi Y, Lee S, Yang K, Park J, Yoon S, Yoon S. Polymorphism rs4263535 in GABRA1 intron 4 was related to deeper sedation by intravenous midazolam. J Int Med Res. 2015;43:686-98 pubmed publisher
    To evaluate whether polymorphisms in the gamma-aminobutyric acid A receptor α1 subunit (GABRA1) gene influence sleep induction time, bispectral index score (BIS) during sleep induction and the total dose of midazolam required to reach ..
  49. Anzini M, Valenti S, Braile C, Cappelli A, Vomero S, Alcaro S, et al. 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. J Med Chem. 2011;54:5694-711 pubmed publisher
    ..Finally, some compounds were submitted to molecular docking calculations along with molecular dynamics simulations in the Cromer's GABA(A) homology model. ..
  50. Jayakar S, Zhou X, Chiara D, Dostalova Z, Savechenkov P, Bruzik K, et al. Multiple propofol-binding sites in a ?-aminobutyric acid type A receptor (GABAAR) identified using a photoreactive propofol analog. J Biol Chem. 2014;289:27456-68 pubmed publisher
    ..These results establish that AziPm as well as propofol bind to the homologous intersubunit sites in the GABAAR transmembrane domain that binds etomidate or R-mTFD-MPAB with high affinity. ..
  51. Panzanelli P, Früh S, Fritschy J. Differential role of GABAA receptors and neuroligin 2 for perisomatic GABAergic synapse formation in the hippocampus. Brain Struct Funct. 2017;222:4149-4161 pubmed publisher
    ..Here, we further explored this issue by investigating the effect of targeted deletion of Gabra1 and NL2 on the dystrophin-glycoprotein complex and on perisomatic synapse formation, using immunofluorescence ..
  52. Schofield P, Pritchett D, Sontheimer H, Kettenmann H, Seeburg P. Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits. FEBS Lett. 1989;244:361-4 pubmed
    ..The cloned human GABAA receptor subunits induce the formation of GABA-gated chloride channels when expressed in mammalian cells. ..
  53. Sidorkiewicz M, Brocka M, Bronis M, Grek M, Jozwiak B, Piekarska A, et al. The altered expression of ?1 and ?3 subunits of the gamma-aminobutyric acid A receptor is related to the hepatitis C virus infection. Eur J Clin Microbiol Infect Dis. 2012;31:1537-42 pubmed publisher
    ..The modulation of ?1 and ?3 GABA A receptors subunits expression in PBMCs may be associated with ongoing or past HCV infection. ..
  54. Le S, Le P, Le T, Kieu Huynh T, Hang Do T. A mutation in GABRB3 associated with Dravet syndrome. Am J Med Genet A. 2017;173:2126-2131 pubmed publisher
    ..channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B...
  55. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002;31:184-9 pubmed
    ..We report that an Ala322Asp mutation in GABRA1, encoding the alpha1 subunit of the gamma-aminobutyric acid receptor subtype A (GABA(A)), is found in affected ..
  56. OZBURN A, KERN J, Parekh P, Logan R, Liu Z, Falcon E, et al. NPAS2 Regulation of Anxiety-Like Behavior and GABAA Receptors. Front Mol Neurosci. 2017;10:360 pubmed publisher
    ..sensitivity to the GABAa positive allosteric modulator, diazepam and that knockdown of Npas2 reduced Gabra1 expression and response to diazepam in the ventral striatum...
  57. Kumar S, Sieghart W, Morrow A. Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption. J Neurochem. 2002;82:110-7 pubmed
    ..These results suggest that PKCgamma may be involved in GABA(A) receptor adaptations following chronic ethanol consumption. ..
  58. Gallagher M, Shen W, Song L, Macdonald R. 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. J Biol Chem. 2005;280:37995-8004 pubmed
  59. Dick D, Plunkett J, Wetherill L, Xuei X, Goate A, Hesselbrock V, et al. Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample. Alcohol Clin Exp Res. 2006;30:1101-10 pubmed
    ..In GABRA1, we found evidence of association with several of the drinking behavior phenotypes, including COGA alcohol ..
  60. Heulens I, D Hulst C, Braat S, Rooms L, Kooy R. Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome. ScientificWorldJournal. 2010;10:2198-206 pubmed publisher
    ..The GABAergic system clearly emerges as an attractive target for therapy of the fragile X syndrome, and thus provides an excellent example of how genetic research can lead to unique opportunities for treatment. ..
  61. Wang K, Liu X, Zhang Q, Wu L, Zeng M. Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms. J Neural Transm (Vienna). 2012;119:425-33 pubmed publisher
    ..0013 and 0.0162, respectively). In addition, several SNPs in GABRA1, GABRG1, and GABRG3 were associated with AWS (p < 10(-2)) in the COGA sample...
  62. Baghel R, Grover S, Kaur H, Jajodia A, Rawat C, Srivastava A, et al. Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels. CNS Neurosci Ther. 2016;22:740-57 pubmed publisher
    ..Both GABRA1 and SCN1A variants showed haplotypic and diplotypic associations in response to phenytoin (PHT)...
  63. Brito V, Mendonca B, Guilhoto L, Freitas K, Arnhold I, Latronico A. 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. J Clin Endocrinol Metab. 2006;91:2432-6 pubmed
    ..of this study was to investigate functional mutations or polymorphisms of the GABA-A receptor alpha1-subunit gene (GABRA1) in girls with idiopathic gonadotropin-dependent precocious puberty (GDPP) with and without ..
  64. Park C, Park S, Lee C, Sohn J, Hahn G, Kim B. Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population. J Korean Med Sci. 2006;21:533-8 pubmed
  65. Bergmann R, Kongsbak K, Sørensen P, Sander T, Balle T. A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites. PLoS ONE. 2013;8:e52323 pubmed publisher
    ..We present a binding mode of DZP in which the pending phenyl moiety of DZP is buried in the binding pocket and thus shielded from solvent exposure. Our full length GABA(A) receptor is made available as Model S1. ..
  66. Chiara D, Jayakar S, Zhou X, Zhang X, Savechenkov P, Bruzik K, et al. Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human ?1?3?2 ?-aminobutyric acid type A (GABAA) receptor. J Biol Chem. 2013;288:19343-57 pubmed publisher
    ..We hypothesize that binding at any of these homologous intersubunit sites is sufficient for anesthetic action and that this explains to some degree the puzzling structural heterogeneity of anesthetics. ..
  67. Nair B, Johar K, Priya A, Wong Riley M. Specificity protein 4 (Sp4) transcriptionally regulates inhibitory GABAergic receptors in neurons. Biochim Biophys Acta. 2016;1863:1-9 pubmed publisher
    ..shRNA of Sp4, functional assays, and western blots, we found that Sp4 functionally regulates the transcription of Gabra1 (GABAA α1) and Gabra2 (GABAA α2), but not Gabra3 (GABAA α3) subunit genes...
  68. Johannesen K, Marini C, Pfeffer S, Møller R, Dorn T, Niturad C, et al. Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies. Neurology. 2016;87:1140-51 pubmed publisher
    To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. Patients with GABRA1 mutations were ascertained through an international collaboration...
  69. Trudell J. Unique assignment of inter-subunit association in GABA(A) alpha 1 beta 3 gamma 2 receptors determined by molecular modeling. Biochim Biophys Acta. 2002;1565:91-6 pubmed
    ..In addition to predicting the most likely inter-subunit arrangement, the model predicts which residues form the GABA and benzodiazepine binding sites. ..
  70. Beneyto M, Abbott A, Hashimoto T, Lewis D. Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia. Cereb Cortex. 2011;21:999-1011 pubmed publisher
  71. Lee S, Oh T, Chung H, Rha S, Kim C, Moon Y, et al. Identification of GABRA1 and LAMA2 as new DNA methylation markers in colorectal cancer. Int J Oncol. 2012;40:889-98 pubmed publisher
    ..the two gene-sets, we subsequently selected, through stepwise subtraction processes, two novel genes, GABRA1 and LAMA2, as methylation targets in colorectal cancer...
  72. Wang R, Zhang W, Dong Z, Qi Y, Hultström M, Zhou X, et al. c-Jun N-terminal Kinase mediates prostaglandin-induced sympathoexcitation in rats with chronic heart failure by reducing GAD1 and GABRA1 expression. Acta Physiol (Oxf). 2017;219:494-509 pubmed publisher
    ..JNK activation and decreased glutamate decarboxylase 1 (GAD1) and GABAA receptor alpha 1 subunit (GABRA1) expression in the PVN...
  73. Orenstein N, Goldberg Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, et al. A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. Eur J Paediatr Neurol. 2018;22:516-524 pubmed publisher
    ..an association of de novo mutations in genes encoding different subunits of the GABAA receptor (GABRB1, GABRA1, GABRG2, GABRB3) with autosomal dominant epileptic disorders, we conclude that a de novo mutation in GABRA2 is ..
  74. Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber Y, et al. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006;59:983-7 pubmed
    To detect mutations in GABRA1 in idiopathic generalized epilepsy. GABRA1 was sequenced in 98 unrelated idiopathic generalized epilepsy patients. Patch clamping and confocal imaging was performed in transfected mammalian cells...
  75. Loh E, Tang N, Lee D, Liu S, Stadlin A. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:439-43 pubmed
    ..Single nucleotide polymorphisms (SNPs) of the GABAA receptor subunits GABRB2, GABRA6, GABRA1, and GABRG2 were examined in 178 male Han Chinese heroin-dependent and 170 male control subjects...
  76. Zhao D, Ning N, Lei Z, Sun H, Wei C, Chen D, et al. Identification of a novel protein complex containing ASIC1a and GABAA receptors and their interregulation. PLoS ONE. 2014;9:e99735 pubmed publisher
    ..Our results indicate that putative GABAA and ASIC1a channels functionally interact with each other, possibly via an inter-molecular association by forming a novel protein complex. ..
  77. Chang Y, Sun H, Fann C, Chang C, Liao Z, Huang J, et al. Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. Mol Psychiatry. 2002;7:828-9 pubmed
  78. Butkovich L, Depoy L, Allen A, Shapiro L, Swanson A, Gourley S. Adolescent-onset GABAA α1 silencing regulates reward-related decision making. Eur J Neurosci. 2015;42:2114-2121 pubmed publisher
    ..selectively in the medial prefrontal cortex (prelimbic subregion) of mice using viral-mediated gene silencing of Gabra1. Adolescent-onset Gabra1 knockdown delayed the acquisition of a cocaine-reinforced instrumental response but ..
  79. Bohnsack J, Hughes B, O Buckley T, Edokpolor K, Besheer J, Morrow A. Histone deacetylases mediate GABAA receptor expression, physiology, and behavioral maladaptations in rat models of alcohol dependence. Neuropsychopharmacology. 2018;43:1518-1529 pubmed publisher
    ..In rodents, GABAAR hypofunction results from decreases in Gabra1 expression, although the underlying mechanism controlling Gabra1 expression after chronic ethanol exposure is ..
  80. Serretti A, Lilli R, Lorenzi C, Franchini L, Di Bella D, Catalano M, et al. Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders. Psychiatry Res. 1999;87:7-19 pubmed
    ..receptor D2 (DRD2), D4 exon 3 (DRD4), and gamma-aminobutyric acid type A (GABA(A)) receptor alpha-1 subunit (GABRA1) gene variants on the efficacy of lithium prophylaxis in mood disorders...
  81. Gallagher M, Song L, Arain F, Macdonald R. 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. J Neurosci. 2004;24:5570-8 pubmed
  82. Helbig I. Genetic Causes of Generalized Epilepsies. Semin Neurol. 2015;35:288-92 pubmed publisher
    ..GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1. Subsequently, recurrent microdeletions at 15q13.3, 16p13.11, and 15q11...
  83. Imai K, Harada S, Kawanishi Y, Tachikawa H, Okubo T, Asada T. Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia. Am J Med Genet. 2002;114:605-8 pubmed
    ..0015). These differences, however, were not significant after Bonferroni correction. These data did not support our hypothesis that polymorphisms of the GABA(B) receptor gene may confer vulnerability for schizophrenia. ..
  84. Rüsch D, Zhong H, Forman S. Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation. J Biol Chem. 2004;279:20982-92 pubmed
    ..This model also correctly predicts the actions of etomidate on GABA(A) receptors containing a point mutation that increases constitutive gating activity. ..
  85. Petri S, Kollewe K, Grothe C, Hori A, Dengler R, Bufler J, et al. GABA(A)-receptor mRNA expression in the prefrontal and temporal cortex of ALS patients. J Neurol Sci. 2006;250:124-32 pubmed
    ..In the occipital and cerebellar cortex, we did not see disease-specific differences of the mRNA expression of the investigated subunits. ..
  86. Poulter M, Du L, Weaver I, Palkovits M, Faludi G, Merali Z, et al. GABAA receptor promoter hypermethylation in suicide brain: implications for the involvement of epigenetic processes. Biol Psychiatry. 2008;64:645-52 pubmed publisher
    ..These observations suggest that epigenetic mechanisms may be associated with altered gene expression in suicide/MDD. ..
  87. Lo W, Botzolakis E, Tang X, Macdonald R. A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly. J Biol Chem. 2008;283:29740-52 pubmed publisher
    ..We thus conclude that C-terminal motifs are also important determinants of Cys-loop receptor assembly. ..
  88. Pershina E, Arkhipov V. Subacute activation of mGlu4 receptors causes the feedback inhibition of its gene expression in rat brain. Life Sci. 2016;153:50-4 pubmed publisher
    ..In addition, we showed that the expression level of GABRA1, encoding GABAA α-subunit was downregulated five days after the treatment in the frontal cortex...
  89. Lund I, Hu Y, Raol Y, Benham R, Faris R, Russek S, et al. BDNF selectively regulates GABAA receptor transcription by activation of the JAK/STAT pathway. Sci Signal. 2008;1:ra9 pubmed publisher
    ..protein (CREB) family member ICER (inducible cAMP early repressor) to bind with phosphorylated CREB at the Gabra1:CRE site...
  90. Jenkins A, Andreasen A, Trudell J, Harrison N. Tryptophan scanning mutagenesis in TM4 of the GABA(A) receptor alpha1 subunit: implications for modulation by inhaled anesthetics and ion channel structure. Neuropharmacology. 2002;43:669-78 pubmed
    ..These data are consistent with a role for these residues at the extracellular end of TM4 in anesthetic modulation of GABA(A) receptors. ..
  91. Hondebrink L, Tan S, Hermans E, van Kleef R, Meulenbelt J, Westerink R. Additive inhibition of human ?1?2?2 GABAA receptors by mixtures of commonly used drugs of abuse. Neurotoxicology. 2013;35:23-9 pubmed publisher
    ..As this will increase the risk for drug-induced toxicity, treatment of drug-intoxicated patients with drugs that enhance GABA-ergic input should be further optimized. ..
  92. Petryshen T, Middleton F, Tahl A, Rockwell G, Purcell S, Aldinger K, et al. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005;10:1074-88, 1057 pubmed
    ..gene association approach to investigate a group of gamma-aminobutyric acid (GABA) A receptor subunit genes (GABRA1, GABRA6, GABRB2, GABRG2, and GABRP) within our linkage peak...