| An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population. | An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.
Hou SJ, Tsai SJ, Kuo PH, Lin WY, Liu YL, Yang AC, Lin E, Lan TH., Free PMC Article | 07/25/2024 |
| Role of beta3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression. | Role of β3 subunit of the GABA type A receptor in triple negative breast cancer proliferation, migration, and cell cycle progression.
Bundy J, Shaw J, Hammel M, Nguyen J, Robbins C, Mercier I, Suryanarayanan A., | 07/15/2024 |
| Integrated analysis identifies GABRB3 as a biomarker in prostate cancer. | Integrated analysis identifies GABRB3 as a biomarker in prostate cancer.
Chen JY, Chang CF, Huang SP, Huang CY, Yu CC, Lin VC, Geng JH, Li CY, Lu TL, Bao BY., Free PMC Article | 02/8/2024 |
| Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity. | Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity.
Lin SXN, Ahring PK, Keramidas A, Liao VWY, Møller RS, Chebib M, Absalom NL., Free PMC Article | 01/11/2024 |
| Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder. | Association of GABRG3, GABRB3, HTR2A gene variants with autism spectrum disorder.
Coskunpinar EM, Tur S, Cevher Binici N, Yazan Songür C. | 05/30/2023 |
| Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex. | Gabrb3 is required for the functional integration of pyramidal neuron subtypes in the somatosensory cortex.
Babij R, Ferrer C, Donatelle A, Wacks S, Buch AM, Niemeyer JE, Ma H, Duan ZRS, Fetcho RN, Che A, Otsuka T, Schwartz TH, Huang BS, Liston C, De Marco García NV., Free PMC Article | 01/28/2023 |
| 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 |
| GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications. | GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y, Zeng Q, Cheng M, Niu X, Xiangwei W, Gong P, Li W, Ma J, Zhang X, Yang X, Yang Z, Sun D, Zhou S, Liao J, Jiang Y, Zhang Y. | 04/30/2022 |
| Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies. | Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK., Free PMC Article | 04/16/2022 |
| Structural mapping of GABRB3 variants reveals genotype-phenotype correlations. | Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. | 03/26/2022 |
| Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia. | Gene expression meta-analysis reveals the down-regulation of three GABA receptor subunits in the superior temporal gyrus of patients with schizophrenia.
Frajman A, Maggio N, Muler I, Haroutunian V, Katsel P, Yitzhaky A, Weiser M, Hertzberg L. | 07/3/2021 |
| Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABAA) receptors. | Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA(A)) receptors.
Jayakar SS, Chiara DC, Zhou X, Wu B, Bruzik KS, Miller KW, Cohen JB., Free PMC Article | 01/23/2021 |
| The intracellular domain of alpha3 and beta3 each contain essential anterograde trafficking signals that are required to overcome ER retention of assembled GABAA homo- or heteropentamers. | Anterograde trafficking signals in GABA(A) subunits are required for functional expression.
Nuwer JL, Fleck MW., Free PMC Article | 07/18/2020 |
| We found that receptors containing either GABRB3 (N328D) or GABRB3 (E357K) mutant subunits had reduced GABA-evoked peak current amplitude. we found that both the GABRB3 (N328D) and GABRB3 (E357K) mutations reduced total subunit expression in neurons but not in HEK293T cells. | Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.
Shi YW, Zhang Q, Cai K, Poliquin S, Shen W, Winters N, Yi YH, Wang J, Hu N, Macdonald RL, Liao WP, Kang JQ., Free PMC Article | 06/20/2020 |
| 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 |
| Receptors containing the GABRB3 p.P301L variant were less sensitive to GABA and produced less GABA-evoked current. | 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 |
| three de novo missense mutations in the GABAA receptor beta3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy, are reported. | GABA (A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.
Hernandez CC, Zhang Y, Hu N, Shen D, Shen W, Liu X, Kong W, Jiang Y, Macdonald RL., Free PMC Article | 07/6/2019 |
| Haplotype C-A might increase the risk of schizophrenia. Multiple regulatory regions that affect GABRB3 expression in vitro were identified. | Functional analysis of haplotypes and promoter activity at the 5' region of the human GABRB3 gene and associations with schizophrenia.
Liu Y, Ding M, Liu YP, Zhang XC, Xing JX, Xuan JF, Xia X, Yao J, Wang BJ., Free PMC Article | 06/29/2019 |
| This work demonstrated that only two substitutions, Q89R and G152T, in beta3 GABAAR are sufficient to reconstitute GABA-mediated activation and suggests that Tyr(87) prevents inhibitory effects of GABA. | Amino acid substitutions in the human homomeric β(3) GABA(A) receptor that enable activation by GABA.
Gottschald Chiodi C, Baptista-Hon DT, Hunter WN, Hales TG., Free PMC Article | 05/4/2019 |
| Meta-analysis showed that GABRB3 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 |
| Meta-analysis indicates that neither rs4906902 nor rs20317 are significantly associated with the risk of autism spectrum disorder. | Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.
Noroozi R, Taheri M, Ghafouri-Fard S, Bidel Z, Omrani MD, Moghaddam AS, Sarabi P, Jarahi AM. | 11/10/2018 |
| rs4906902 and rs8179184 in the 5' promoter region of GABRB3 are associated with schizophrenia in Han Chinese. | The GABRB3 Polymorphism and its Association with Schizophrenia.
Liu Y, Sun XF, Ding M, Liu YP, Zhang XC, Pang H, Xing JX, Xuan JF, Xia X, Wang BJ, Yao J. | 08/18/2018 |
| In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder..the data in this study identify GABRB3 as a candidate gene for Dravet syndrome | A mutation in GABRB3 associated with Dravet syndrome.
Le SV, Le PHT, Le TKV, Kieu Huynh TT, Hang Do TT. | 12/2/2017 |
| Results indicate that GABRB3 mutations are associated with a broad phenotypic spectrum of epilepsies and that reduced receptor function causing GABAergic disinhibition represents the relevant disease mechanism | Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S., Free PMC Article | 05/20/2017 |
| GABRB3 might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence | Association analysis of GABRB3 promoter variants with heroin dependence.
Chen CH, Huang CC, Liao DL., Free PMC Article | 12/5/2015 |