| Novel variants in GABAA receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy. | Novel variants in GABA(A) receptor subunits: A possible association with benzodiazepine resistance in patients with drug-resistant epilepsy.
Chakraborty A, Dey S, Kumar K, Dixit AB, Tripathi M, Sharma MC, Chandra PS, Banerjee J. | 01/28/2023 |
| Effects of alpha5 GABAA receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease. | Effects of α5 GABA(A) receptor modulation on social interaction, memory, and neuroinflammation in a mouse model of Alzheimer's disease.
Aranđelović J, Santrač A, Batinić B, Todorović L, Stevanović V, Tiruveedhula VVNPB, Sharmin D, Rashid F, Stanojević B, Cook JM, Savić MM., Free PMC Article | 10/15/2022 |
| GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands. | GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.
Saha S, Chatterjee M, Dutta N, Sinha S, Mukhopadhyay K. | 06/11/2022 |
| Sex Differences in the Expression of the alpha5 Subunit of the GABAA Receptor in Alcoholics with and without Cirrhosis of the Liver. | Sex Differences in the Expression of the α5 Subunit of the GABA(A) Receptor in Alcoholics with and without Cirrhosis of the Liver.
Janeczek P, Colson N, Dodd PR, Lewohl JM., Free PMC Article | 02/6/2021 |
| study identified GABRA5 as a causative gene for early onset epileptic encephalopathy and expands the mutant GABRA1 phenotypic spectrum, supporting growing evidence that defects in GABAergic neurotransmission contribute to early onset epileptic encephalopathy phenotypes. | Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y, Macdonald RL., Free PMC Article | 05/23/2020 |
| both total GABAA and GABAA alpha5 receptor availability in two positron emission tomography imaging studies, are reported. | GABA(A) receptor availability is not altered in adults with autism spectrum disorder or in mouse models.
Horder J, Andersson M, Mendez MA, Singh N, Tangen Ä, Lundberg J, Gee A, Halldin C, Veronese M, Bölte S, Farde L, Sementa T, Cash D, Higgins K, Spain D, Turkheimer F, Mick I, Selvaraj S, Nutt DJ, Lingford-Hughes A, Howes OD, Murphy DG, Borg J. | 10/12/2019 |
| cryo-EM structure of the human alpha5beta3 GABAA receptor | Cryo-EM structure of the human α5β3 GABA(A) receptor.
Liu S, Xu L, Guan F, Liu YT, Cui Y, Zhang Q, Zheng X, Bi GQ, Zhou ZH, Zhang X, Ye S., Free PMC Article | 09/28/2019 |
| The GABRA5 p.V294L variant produced receptors that were 10-times more sensitive to GABA but had reduced maximal GABA-evoked current due to increased receptor desensitization. | De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A., Free PMC Article | 07/20/2019 |
| Meta-analysis showed that GABRA5 polymorphisms are not significantly associated with autism. | Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).
Mahdavi M, Kheirollahi M, Riahi R, Khorvash F, Khorrami M, Mirsafaie M. | 02/23/2019 |
| GABAA receptor gene polymorphisms can predict symptom-based and developmental deficits in autistic spectrum disorders individuals. | GABA(A) receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders.
Yang S, Guo X, Dong X, Han Y, Gao L, Su Y, Dai W, Zhang X., Free PMC Article | 01/12/2019 |
| Low GABRA5 expression typified hyperproliferative tumors, and loss of taurine signaling correlated with reduced patient survival, suggesting this tumor suppressive mechanism operates in vivo. | RNAi screening of subtracted transcriptomes reveals tumor suppression by taurine-activated GABAA receptors involved in volume regulation.
Wielders CLC, van Nierop P, Vormer TL, Foijer F, Verheij J, Lodder JC, Andersen JB, Mansvelder HD, Te Riele H., Free PMC Article | 08/4/2018 |
| Study found a significant reduction in [(11)C]Ro15 4513 binding in the nucleus accumbens in an opiate-dependent compared with the healthy control group. Study suggests that reduced GABA A receptor alpha5 levels in the nucleus accumbens are associated with addiction. | Using [(11)C]Ro15 4513 PET to characterise GABA-benzodiazepine receptors in opiate addiction: Similarities and differences with alcoholism.
Lingford-Hughes A, Myers J, Watson B, Reid AG, Kalk N, Feeney A, Hammers A, Riaño-Barros DA, McGinnity CJ, Taylor LG, Rosso L, Brooks DJ, Turkheimer F, Nutt DJ., Free PMC Article | 01/27/2018 |
| Report benzodiazepine derivative as GABA-site inhibitor of extra-synaptic GABAA alpha5 receptors. | A novel GABA(A) alpha 5 receptor inhibitor with therapeutic potential.
Ling I, Mihalik B, Etherington LA, Kapus G, Pálvölgyi A, Gigler G, Kertész S, Gaál A, Pallagi K, Kiricsi P, Szabó É, Szénási G, Papp L, Hársing LG, Lévay G, Spedding M, Lambert JJ, Belelli D, Barkóczy J, Volk B, Simig G, Gacsályi I, Antoni FA. | 07/30/2016 |
| Study found that a significant portion of GABAergic postsynaptic compartments contain the alpha5 GABAAR subunit, both in vitro and in vivo | Synaptic localization of α5 GABA (A) receptors via gephyrin interaction regulates dendritic outgrowth and spine maturation.
Brady ML, Jacob TC., Free PMC Article | 07/16/2016 |
| This study showed that in male groups, the expression of GABRA5 was generally lower in schizophrenia cases compared to the control. | Sex differences in GABAergic gene expression occur in the anterior cingulate cortex in schizophrenia.
Bristow GC, Bostrom JA, Haroutunian V, Sodhi MS., Free PMC Article | 07/2/2016 |
| Findings provide genetic evidence for the involvement of the genes GABRB3 and GABRA5 in the susceptibility to panic disorder | Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.
Hodges LM, Fyer AJ, Weissman MM, Logue MW, Haghighi F, Evgrafov O, Rotondo A, Knowles JA, Hamilton SP., Free PMC Article | 04/18/2015 |
| 1,2-dichlorohexafluorocyclobutane enhancement of GABRA5 activity is abolished by GABRB3 mutations. | Enhancement of α5-containing γ-aminobutyric acid type A receptors by the nonimmobilizer 1,2-dichlorohexafluorocyclobutane (F6) is abolished by the β3(N265M) mutation.
Burkat PM, Lor C, Perouansky M, Pearce RA., Free PMC Article | 01/17/2015 |
| The alpha5 nicotinic receptor GABAergic neurons form a link from the medial habenula to the serotonergic brain centers. | Medial habenula output circuit mediated by α5 nicotinic receptor-expressing GABAergic neurons in the interpeduncular nucleus.
Hsu YW, Tempest L, Quina LA, Wei AD, Zeng H, Turner EE., Free PMC Article | 01/11/2014 |
| These results provide initial evidence of a GABAA alpha5 deficit in autism spectrum disorder and support further investigations of the GABA system in this disorder. | The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study.
Mendez MA, Horder J, Myers J, Coghlan S, Stokes P, Erritzoe D, Howes O, Lingford-Hughes A, Murphy D, Nutt D., Free PMC Article | 09/14/2013 |
| In subjects with schizophrenia, mean GABA (A) alpha5 rerceptor subunit mRNA expression is 15% lower in layer 4 of the dorsolateral prefrontal cortex. | Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
Beneyto M, Abbott A, Hashimoto T, Lewis DA., Free PMC Article | 03/17/2012 |
| 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. | 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.
Anzini M, Valenti S, Braile C, Cappelli A, Vomero S, Alcaro S, Ortuso F, Marinelli L, Limongelli V, Novellino E, Betti L, Giannaccini G, Lucacchini A, Daniele S, Martini C, Ghelardini C, Di Cesare Mannelli L, Giorgi G, Mascia MP, Biggio G. | 12/10/2011 |
| 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. | Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
Roden WH, Peugh LD, Jansen LA., Free PMC Article | 01/1/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (14) articlesAssociation study of 182 candidate genes in anorexia nervosa.
Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J, Woodside DB. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population.
Yosifova A, Mushiroda T, Stoianov D, Vazharova R, Dimova I, Karachanak S, Zaharieva I, Milanova V, Madjirova N, Gerdjikov I, Tolev T, Velkova S, Kirov G, Owen MJ, O'Donovan MC, Toncheva D, Nakamura Y. 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.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype.
Craddock N, Jones L, Jones IR, Kirov G, Green EK, Grozeva D, Moskvina V, Nikolov I, Hamshere ML, Vukcevic D, Caesar S, Gordon-Smith K, Fraser C, Russell E, Norton N, Breen G, St Clair D, Collier DA, Young AH, Ferrier IN, Farmer A, McGuffin P, Holmans PA, Wellcome Trust Case Control Consortium (WTCCC), Donnelly P, Owen MJ, O'Donovan MC. A common variant in DRD3 receptor is associated with autism spectrum disorder.
de Krom M, Staal WG, Ophoff RA, Hendriks J, Buitelaar J, Franke B, de Jonge MV, Bolton P, Collier D, Curran S, van Engeland H, van Ree JM. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.
Tochigi M, Kato C, Koishi S, Kawakubo Y, Yamamoto K, Matsumoto H, Hashimoto O, Kim SY, Watanabe K, Kano Y, Nanba E, Kato N, Sasaki T. Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.
Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. No association of migraine to the GABA-A receptor complex on chromosome 15.
Oswell G, Kaunisto MA, Kallela M, Hämäläinen E, Anttila V, Kaprio J, Färkkilä M, Wessman M, Palotie A. The GABA type A receptor alpha5 subunit gene is associated with bipolar I disorder.
Otani K, Ujike H, Tanaka Y, Morita Y, Katsu T, Nomura A, Uchida N, Hamamura T, Fujiwara Y, Kuroda S. [Case-control study and transmission/disequilibrium test of childhood absence epilepsy].
Lu J, Chen Y, Zhang Y, Pan H, Liu X, Jiang Y, Du W, Shen Y, Xu K, Wu H, Wu X. GABA-A receptor beta3 and alpha5 subunit gene cluster on chromosome 15q11-q13 and bipolar disorder: a genetic association study.
Papadimitriou GN, Dikeos DG, Karadima G, Avramopoulos D, Daskalopoulou EG, Stefanis CN. Association between GABA-A receptor alpha 5 subunit gene locus and schizophrenia of a later age of onset.
Papadimitriou G, Dikeos D, Daskalopoulou E, Karadima G, Avramopoulos D, Contis C, Stefanis C. | 03/13/2008 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | See all PubMed (3) articlesAn analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.
Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA. Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, Delong GR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, Pericak-Vance MA. A multivariate analysis of 59 candidate genes in personality traits: the temperament and character inventory.
Comings DE, Gade-Andavolu R, Gonzalez N, Wu S, Muhleman D, Blake H, Mann MB, Dietz G, Saucier G, MacMurray JP. | 03/13/2008 |