GABRA1

Summary

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

Top Publications

  1. ncbi Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene
    I Kang
    Department of Pharmacology and Experimental Therapeutics, Tufts University School of Medicine, Boston, Massachusetts 02111
    J Neurochem 62:1643-6. 1994
  2. ncbi GABAA alpha-1 subunit gene not associated with depressive symptomatology in mood disorders
    A Serretti
    Department of Neuroscience, School of Medicine, University of Milano, Italy
    Psychiatr Genet 8:251-4. 1998
  3. ncbi The alpha1 subunit of GABAA receptor is repressed by c-myc and is pro-apoptotic
    Uri A Vaknin
    Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 2175, USA
    J Cell Biochem 97:1094-103. 2006
  4. pmc GABA(A) receptor downregulation in brains of subjects with autism
    S Hossein Fatemi
    Department of Psychiatry, University of Minnesota, Minneapolis, MN 55455, USA
    J Autism Dev Disord 39:223-30. 2009
  5. pmc Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, United States
    Biochemistry 51:836-47. 2012
  6. doi Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder
    Elaine K Green
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 153:1347-9. 2010
  7. doi Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
    Pamela Lachance-Touchette
    Centre for Excellence in Neuromics of University of Montreal, CHUM Research Center, 1560 Sherbrooke Est, Montreal, QC, Canada H2L 4M1
    Eur J Neurosci 34:237-49. 2011
  8. ncbi GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1
    F K Bedford
    Medical Research Council Laboratory of Molecular Cell Biology and Department of Pharmacology, University College London, Gower Street, London WC1E 6BT, UK
    Nat Neurosci 4:908-16. 2001
  9. ncbi Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly
    I Sarto
    Division of Biochemistry and Molecular Biology, Brain Research Institute, University of Vienna, Spitalgasse 4, Austria
    Neuropharmacology 43:482-91. 2002
  10. ncbi Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits
    P R Schofield
    Zentrum fur Molekulare Biologie, University of Heidelberg, FRG
    FEBS Lett 244:361-4. 1989

Research Grants

Scientific Experts

Detail Information

Publications125 found, 100 shown here

  1. ncbi Isolation and characterization of the promoter of the human GABAA receptor alpha 1 subunit gene
    I Kang
    Department of Pharmacology and Experimental Therapeutics, Tufts University School of Medicine, Boston, Massachusetts 02111
    J Neurochem 62:1643-6. 1994
    ..Transcriptional activity of this promoter construct was strongly repressed by chronic administration of lorazepam...
  2. ncbi GABAA alpha-1 subunit gene not associated with depressive symptomatology in mood disorders
    A Serretti
    Department of Neuroscience, School of Medicine, University of Milano, Italy
    Psychiatr Genet 8:251-4. 1998
    ..the possibility that the gene for the gamma-aminobutyric acid type A (GABAA) receptor alpha-1 subunit (GABRA1) might be associated with depressive symptomatology in a sample of mood disorder subjects...
  3. ncbi The alpha1 subunit of GABAA receptor is repressed by c-myc and is pro-apoptotic
    Uri A Vaknin
    Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 2175, USA
    J Cell Biochem 97:1094-103. 2006
    ..In addition, the regulation of GABAAR-alpha1 expression by c-myc provides a potential direct role for the Myc proteins in neurological processes and neurodegenerative disorders...
  4. pmc GABA(A) receptor downregulation in brains of subjects with autism
    S Hossein Fatemi
    Department of Psychiatry, University of Minnesota, Minneapolis, MN 55455, USA
    J Autism Dev Disord 39:223-30. 2009
    ..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 ..
  5. pmc Mapping general anesthetic binding site(s) in human α1β3 γ-aminobutyric acid type A receptors with [³H]TDBzl-etomidate, a photoreactive etomidate analogue
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, United States
    Biochemistry 51:836-47. 2012
    ..Etomidate-inhibitable photolabeling of β3Met-227 in βM1 by [³H]TDBzl-etomidate and [³H]azietomidate also provides evidence of a homologous etomidate binding site at the β3-β3 subunit interface in the α1β3 GABA(A)R...
  6. doi Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder
    Elaine K Green
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 153:1347-9. 2010
    ..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)...
  7. doi Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
    Pamela Lachance-Touchette
    Centre for Excellence in Neuromics of University of Montreal, CHUM Research Center, 1560 Sherbrooke Est, Montreal, QC, Canada H2L 4M1
    Eur J Neurosci 34:237-49. 2011
    ..of additional mutations in the GABA(A) receptor by direct sequencing of the complete open reading frame of the GABRA1 and GABRG2 genes from a cohort of French Canadian families with idiopathic generalized epilepsy (IGE)...
  8. ncbi GABA(A) receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1
    F K Bedford
    Medical Research Council Laboratory of Molecular Cell Biology and Department of Pharmacology, University College London, Gower Street, London WC1E 6BT, UK
    Nat Neurosci 4:908-16. 2001
    ..Our study identifies a previously unknown role for Plic-1, a modulation of GABA(A) receptor cell surface number, which suggests that Plic-1 facilitates accumulation of these receptors in dendritic membranes...
  9. ncbi Homologous sites of GABA(A) receptor alpha(1), beta(3) and gamma(2) subunits are important for assembly
    I Sarto
    Division of Biochemistry and Molecular Biology, Brain Research Institute, University of Vienna, Spitalgasse 4, Austria
    Neuropharmacology 43:482-91. 2002
    ..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...
  10. ncbi Sequence and expression of human GABAA receptor alpha 1 and beta 1 subunits
    P R Schofield
    Zentrum fur Molekulare Biologie, University of Heidelberg, FRG
    FEBS Lett 244:361-4. 1989
    ..The cloned human GABAA receptor subunits induce the formation of GABA-gated chloride channels when expressed in mammalian cells...
  11. ncbi Possible association between a haplotype of the GABA-A receptor alpha 1 subunit gene (GABRA1) and mood disorders
    Yasue Horiuchi
    Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki, Japan
    Biol Psychiatry 55:40-5. 2004
    ..The GABRA1 gene encodes one of the subunits of GABA-A receptor and is located on human chromosome 5q34-q35, which is a region ..
  12. ncbi Dopamine receptor D2 and D4 genes, GABA(A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders
    A Serretti
    Istituto Scientifico Ospedale San Raffaele, Department of Neuropsychiatric Sciences, University of Milan School of Medicine, Italy
    Psychiatry Res 87:7-19. 1999
    ..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...
  13. ncbi 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
    Henry J Waldvogel
    Department of Anatomy with Radiology, Faculty of Medical and Health Sciences, University of Auckland, Private Bag 92019, Auckland, New Zealand
    J Comp Neurol 470:339-56. 2004
    ..GABA also 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...
  14. ncbi Modelling extracellular domains of GABA-A receptors: subtypes 1, 2, 3, and 5
    Kuo Chen Chou
    Tianjin Institute of Bioinformatics and Drug Discovery, Tianjin 300074, China
    Biochem Biophys Res Commun 316:636-42. 2004
    ..The present models might be also useful in understanding the basic mechanism of operation of the GABA-A receptors, stimulating novel strategies for developing more specific drugs and better treatments...
  15. pmc Mutations in GABAA receptor subunits associated with genetic epilepsies
    Robert L Macdonald
    Department of Neurology, Vanderbilt University, 6140 Medical Research Building III, 465 21st Avenue, Nashville, TN 37232 8552, USA
    J Physiol 588:1861-9. 2010
    Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile ..
  16. pmc Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism
    D Q Ma
    Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 77:377-88. 2005
    ..were screened in the following genes: GABRG1, GABRA2, GABRA4, and GABRB1 on chromosome 4p12; GABRB2, GABRA6, GABRA1, GABRG2, and GABRP on 5q34-q35.1; GABRR1 and GABRR2 on 6q15; and GABRA5, GABRB3, and GABRG3 on 15q12...
  17. pmc Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility
    Junghyun Namkung
    Bioinformatics Program, Seoul National University, Seoul 151 747, South Korea
    BMC Genet 6:S9. 2005
    ..For the genetic study of complex diseases, association analysis has been recommended because of its higher power than that of the linkage analysis for detecting genes with modest effects on disease...
  18. ncbi High-resolution physical mapping of human 5q31-q33 using three methods: radiation hybrid mapping, interphase fluorescence in situ hybridization, and pulsed-field gel electrophoresis
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 24:395-8. 1994
    ..the predicted order of the 12 loci is cen-ADRB2-PDEA-CSF1R-RPS14-ANX6-SPARC++ +-GLRA1-GLUR1-ADRA1B-IL12- GABRG2-GABRA1-tel...
  19. ncbi No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia
    Rami Abou Jamra
    Institute of Human Genetics, Department of Psychiatry, Life and Brain Center, University of Bonn, Bonn, Germany
    Psychiatr Genet 17:43-5. 2007
    ..abundant gamma-amino-n-butyric acid type A receptor subtype in mammalian brains and the corresponding genes, the GABRA1, GABRB2, and GABRG2 genes, are located in chromosomal region 5q34 that several genome wide scans have implicated ..
  20. doi Imprinting in the schizophrenia candidate gene GABRB2 encoding GABA(A) receptor β(2) subunit
    F W Pun
    Department of Biochemistry, Hong Kong University of Science and Technology, Clear Water Bay, Hong Kong, China
    Mol Psychiatry 16:557-68. 2011
    ..of allelic expression in heterozygotes of SNP rs2229944 (C/T) in GABRB2 or rs2290732 (G/A) in the neighboring GABRA1 was compatible with imprinting effects on gene expression...
  21. ncbi Genetics of bipolar disorder
    Tadafumi Kato
    Laboratory for Molecular Dynamics of Mental Disorders, RIKEN Brain Science Institute, Wako, Saitama, Japan
    Drugs Today (Barc) 41:335-44. 2005
    ..Among recently reported candidate genes, BDNF, G72, AKT1, GRIN2A, XBP1, GRK3, HTR4, IMPA2 and GABRA1 may have some importance...
  22. doi Advances on the genetics of Mendelian idiopathic epilepsies
    Stephanie Baulac
    CRICM UPMC Paris6 UMR S975 Inserm U975 CNRS UMR 7225, F 75013, Bâtiment Pharmacie, Hôpital de Pitié Salpêtrière, 47 Boulevard de l Hopital, 75013 Paris, France
    Clin Lab Med 30:911-29. 2010
    ..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...
  23. doi Changes in neuronal activity and gene expression in guinea-pig auditory brainstem after unilateral partial hearing loss
    S Dong
    Physiology, School of Biomedical, Biomolecular and Chemical Sciences, M311, University of Western Australia, 35 Stirling Highway, Crawley, Western Australia 6009, WA, Australia
    Neuroscience 159:1164-74. 2009
    ..Expression of glutamate decarboxylase 1 (GAD1), GABA-A receptor subunit alpha-1 (GABRA1), and potassium channel subfamily K member 15 (KCNK15) was decreased ipsilaterally in the cochlear nucleus and ..
  24. doi Whole-genome scan identifies quantitative trait loci for chronic pastern dermatitis in German draft horses
    E Henrike Mittmann
    Institute of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bunteweg 17p, 30559, Hannover, Germany
    Mamm Genome 21:95-103. 2010
    ..For the Rhenish German and Schleswig draft horses, additional QTL on ECA4 and 10 and for the South German draft horses an additional QTL on ECA7 were found...
  25. doi The effect of STAT3 inhibition on status epilepticus and subsequent spontaneous seizures in the pilocarpine model of acquired epilepsy
    H L Grabenstatter
    Department of Pediatrics, Division of Neurology and Translational Epilepsy Research Program, University of Colorado School of Medicine, Aurora, CO, USA
    Neurobiol Dis 62:73-85. 2014
    ..Protein and/or mRNA levels for pSTAT3, and STAT3-regulated genes including: ICER, Gabra1, c-myc, mcl-1, cyclin D1, and bcl-xl were evaluated in WP1066 and vehicle-treated rats during stages of ..
  26. ncbi Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor
    Yutaka Kurano
    Department of Psychiatry, Kagoshima University, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima 890 8520, Japan
    Biochem Biophys Res Commun 351:438-42. 2006
    ..protein, we compared the protein-level expression and localization of gephyrin and the GABA(A) receptor alpha1 (GABRA1) and gamma2 (GABRG2) subunits...
  27. ncbi Seizures of idiopathic generalized epilepsies
    Reyna M Duron
    California Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA
    Epilepsia 46:34-47. 2005
    ..Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 ..
  28. ncbi Regulation of the expression of GABAA receptor subunits by an antiepileptic drug QYS
    Xianchun Li
    Key Lab of Brain Functional Genomics, MOE and STCSM, Shanghai Institute of Brain Functional Genomics, East China Normal University, Shanghai
    Neurosci Lett 392:145-9. 2006
    ..The results showed that treatment of QYS significantly increased the expressions of Gabra1, Gabra2 and Gabr4 and decreased the expression of Gabrg2 in inferior colliculus...
  29. ncbi A high-resolution comparative radiation hybrid map of equine chromosome 4q12-q22
    C Dierks
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Foundation, Bunteweg 17p, 30559 Hannover, Germany
    Anim Genet 37:513-7. 2006
    In this study, we present a comprehensive 5000-rad radiation hybrid map of a 40-cM region on equine chromosome 4 (ECA4) that contains quantitative trait loci for equine osteochondrosis...
  30. doi Gene-wide tagging study of the effects of common genetic polymorphisms in the α subunits of the GABA(A) receptor on epilepsy treatment response
    Chin Chuan Hung
    Department of Pharmacy, College of Pharmacy, China Medical University, Taichung, Taiwan and Department of Pharmacy, China Medical University Hospital, Taichung, Taiwan
    Pharmacogenomics 14:1849-56. 2013
    ..We aimed to identify the effect of SNPs in the α-subunits of GABAA receptors on epilepsy treatment outcomes by using a gene-wide tagging method...
  31. ncbi Increased GABA(A)-receptor alpha1-subunit expression in hippocampal dentate gyrus after early-life status epilepticus
    YogendraSinh H Raol
    Division of Neurology, Pediatric Regional Epilepsy Program, Children s Hospital of Philadelphia, Philapelphia, Pennsylvania, USA
    Epilepsia 47:1665-73. 2006
    ..and adult rats suggest that status epilepticus (SE) induces changes in the alpha1 subunit of the GABA(A) receptor (GABRA1) in dentate granule neurons (DGNs) that are age dependent and vary inversely with the likelihood of epilepsy ..
  32. ncbi Adult-onset autosomal dominant myoclonic epilepsy: report of a family with an overlooked epileptic syndrome
    Yue Loong Hsin
    Department of Neurology, Buddhist Tzu Chi General Hospital, and Institute of Medical Sciences, Buddhist Tzu Chi University, Hualien, Taiwan
    Seizure 16:160-5. 2007
    ..Myoclonic epilepsy is a common epileptic syndrome with high genetic contribution. We described a pedigree in which 10 individuals presented with a non-progressive, adult-onset myoclonic epilepsy...
  33. pmc Potential Impact of miR-137 and Its Targets in Schizophrenia
    Carrie Wright
    Department of Neurosciences, Health Sciences Center, University of New Mexico Albuquerque, NM, USA
    Front Genet 4:58. 2013
    ..miR-137 targets, there are other schizophrenia-associated genes that may be targets of miR-137, including ERBB4, GABRA1, GRIN2A, GRM5, GSK3B, NRG2, and HTR2C...
  34. ncbi [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]
    Shu Zhang
    Department of Forensic Pathology, School of Forensic Medicine, China Medical University, Shenyang 110001, China
    Fa Yi Xue Za Zhi 27:401-4. 2011
    ..To observe the expression of GABA(A) receptor alpha1 (GABA(A)alpha1) and GABA(B) receptor 1 (GABA(B)1) in human medulla oblongata solitary nucleus and ambiguous nucleus due to tramadol-induced death...
  35. pmc Down-regulation of GABA(A) receptor via promiscuity with the vasoactive peptide urotensin II receptor. Potential involvement in astrocyte plasticity
    Laurence Desrues
    Inserm U982, Laboratory of Neuronal and Neuroendocrine Communication and Differentiation, Astrocyte and Vascular Niche, University of Rouen, Mont Saint Aignan, France
    PLoS ONE 7:e36319. 2012
    ..This UII-induced disappearance of the repressor activity of GABA(A)R, may play a key role in the initiation of astrocyte proliferation...
  36. doi Increased DNA methylation of neuropsychiatric genes occurs in borderline personality disorder
    Gerhard Dammann
    Psychiatric Hospital, Muensterlingen, Switzerland
    Epigenetics 6:1454-62. 2011
    ..In our study we analyzed DNA methylation patterns of 14 neuropsychiatric genes (COMT, DAT1, GABRA1, GNB3, GRIN2B, HTR1B, HTR2A, 5-HTT, MAOA, MAOB, NOS1, NR3C1, TPH1 and TH)...
  37. pmc Discrete M3-M4 intracellular loop subdomains control specific aspects of γ-aminobutyric acid type A receptor function
    Kate K O'Toole
    Department of Anesthesiology, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 286:37990-9. 2011
    ..Within this subdomain, the α1(K378E) mutation induced a significant reduction in single channel conductance, consistent with our hypothesis that the GABA(A)R α1 ILD contributes directly to the permeation pathway...
  38. pmc Complex control of GABA(A) receptor subunit mRNA expression: variation, covariation, and genetic regulation
    Megan K Mulligan
    Department of Anatomy and Neurobiology, University of Tennessee Health Science Center, Memphis, Tennessee, United States of America
    PLoS ONE 7:e34586. 2012
    ..Expression of Gabra1, Gabra2, Gabrb2, Gabrb3, and Gabrg2 is highly variable and heritable among the large cohort of BXD strains derived ..
  39. doi Tlx1/3 and Ptf1a control the expression of distinct sets of transmitter and peptide receptor genes in the developing dorsal spinal cord
    Zhen Guo
    Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200031, China
    J Neurosci 32:8509-20. 2012
    ..We found that receptor genes Gabra1, Gabra5, Gabrb2, Gria3, Grin3a, Grin3b, Galr1, and Npy1r were preferentially expressed in Tlx3-expressing ..
  40. doi γ-Amino-butyric acid (GABA) receptor subunit and transporter expression in the gonad and liver of the fathead minnow (Pimephales promelas)
    Katie Biggs
    Department of Biology, University of New Brunswick, Saint John, New Brunswick E2L 4L5, Canada
    Comp Biochem Physiol A Mol Integr Physiol 166:119-27. 2013
    ..gad65, gad67, vesicular GABA transporter (vgat) and GABA transporter 1 (gat1), and select GABAA receptor subunits (gabra1, gabra5, gabrb1, gabrb2, gabrg1, gabrg2)...
  41. pmc Specificity of intersubunit general anesthetic-binding sites in the transmembrane domain of the human α1β3γ2 γ-aminobutyric acid type A (GABAA) receptor
    David C Chiara
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Biol Chem 288:19343-57. 2013
    ..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. ..
  42. pmc Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia
    Monica Beneyto
    Department of Psychiatry, University of Pittsburgh, W1656 Biomedical Science Tower, 3811 O Hara Street, Pittsburgh, PA 15213, USA
    Cereb Cortex 21:999-1011. 2011
    ....
  43. ncbi Evidence of association between gamma-aminobutyric acid type A receptor genes located on 5q34 and female patients with mood disorders
    Kazuo Yamada
    Laboratory for Molecular Psychiatry, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Neurosci Lett 349:9-12. 2003
    ..In the present study, we examined GABA(A) receptor alpha1 (GABRA1), alpha6 (GABRA6) and gamma2 (GABRG2) subunit genes on 5q34...
  44. doi Amygdala gene expression of NMDA and GABA(A) receptors in patients with mesial temporal lobe epilepsy
    José Carlos de Moura
    Department of Surgery and Anatomy, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo USP, SP, Brazil
    Hippocampus 22:92-7. 2012
    ..Our results suggest that the NR1 subunit of NMDA receptors is involved in the amygdala hyperexcitability in some of the patients with TLE...
  45. doi Lower anxiety and a decrease in agonistic behaviour in Lsamp-deficient mice
    Jürgen Innos
    Department of Physiology, University of Tartu, Tartu, Estonia
    Behav Brain Res 217:21-31. 2011
    ..possible explanation for the anxiolytic-like effect of the deletion of the Lsamp gene is a shift in balance in the Gabra1 and Gabra2 genes in the temporal lobe in favor of the Gabra2 transcript, encoding α2 subunit of GABA(A) receptors ..
  46. doi Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
    Ozlem Yalcin
    Department of Molecular Biology and Genetics, T C Istanbul Arel University, Tepekent Buyukcekmece, Istanbul, Turkey
    Seizure 21:79-86. 2012
    ..mutations and susceptibility alleles determined in the genes that code for the subunits of GABA receptors (GABRG2, GABRA1, GABRB3, GABRA5, GABA(B1) and GABA(B2)), calcium channels (CACNA1A, CACNA1G, CACNA1H, CACNA1I, CACNAB4, CACNAG2 ..
  47. ncbi Screening of GABA(A)-receptor gene mutations in primary dystonia
    H Shang
    Department of Neurology, West China Hospital, Sichuan University, Chengdu, China
    Eur J Neurol 14:1179-81. 2007
    ..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 ..
  48. ncbi Towards understanding the schizophrenia code: an expanded convergent functional genomics approach
    H Le-Niculescu
    Laboratory of Neurophenomics, Indiana University School of Medicine, Indianapolis, Indiana, USA
    Am J Med Genet B Neuropsychiatr Genet 144:129-58. 2007
    ..Topping the list of candidate genes, we have three genes involved in GABA neurotransmission (GABRA1, GABBR1, and GAD2), one gene involved in glutamate neurotransmission (GRIA2), one gene involved in neuropeptide ..
  49. doi 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
    James R Trudell
    Department of Anesthesia, Stanford University School of Medicine, Stanford, California 94305 5117, USA
    J Chem Inf Model 48:344-9. 2008
    ..Sensitivity to Zn2+ was restored in the double mutant receptor, alpha1beta2gamma2 (I282H; K285E), in which the competition with lysine was removed and a more favorable Zn2+ binding site was formed...
  50. ncbi Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population
    E W Loh
    Division of Psychiatry and Drug Abuse Research, National Health Research Institutes at Taipei City Psychiatric Center, Sinyi District, Taipei City, Taiwan
    Am J Med Genet B Neuropsychiatr Genet 144:439-43. 2007
    ..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...
  51. ncbi Molecular mechanisms of schizophrenia
    Undine E Lang
    Department of Psychiatry, Charite University Medicine Berlin, Campus Mitte, Berlin Germany
    Cell Physiol Biochem 20:687-702. 2007
    ..been proposed to modulate the pathophysiology of the disease which is represented by the involvement of genes like GABRA1, GABRP, GABRA6 and Reelin...
  52. pmc Impaired maturation of cortical GABA(A) receptor expression in pediatric epilepsy
    Laura A Jansen
    Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington, USA
    Epilepsia 51:1456-67. 2010
    ..In the present study, analysis of cortical GABA(A) subunit expression was performed in control human tissue obtained from infancy through adolescence, and was compared to that from similarly aged children with intractable focal epilepsy...
  53. ncbi Genetic polymorphisms and idiopathic generalized epilepsies
    Nazzareno Lucarini
    Department of Molecular, Cellular, and Animal Biology, University of Camerino, Camerino, Italy
    Pediatr Neurol 37:157-64. 2007
    ..genes encode for some important central nervous system ion channels (KCNJ10, KCNJ3, KCNQ2/KCNQ3, CLCN2, GABRG2, GABRA1, SCN1B, and SCN1A), while many others encode for ubiquitary enzymes that play crucial roles in various metabolic ..
  54. pmc The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation
    Martin J Gallagher
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Proc Natl Acad Sci U S A 104:12999-3004. 2007
    ....
  55. doi Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype
    N Craddock
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 15:146-53. 2010
    ..Our method of phenotype refinement may be useful in studies of other complex psychiatric and non-psychiatric disorders...
  56. pmc Protein kinase C phosphorylation regulates membrane insertion of GABAA receptor subtypes that mediate tonic inhibition
    Armen M Abramian
    Department of Neuroscience, Tufts University, Boston, Massachusetts 02111, USA
    J Biol Chem 285:41795-805. 2010
    ..These results suggest that PKC-dependent phosphorylation of the α4 subunit plays a significant role in enhancing the cell surface stability and activity of GABA(A)R subtypes that mediate tonic inhibition...
  57. pmc 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
    Li Ding
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232, USA
    J Biol Chem 285:26390-405. 2010
    ..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...
  58. doi Tonotopic changes in GABA receptor expression in guinea pig inferior colliculus after partial unilateral hearing loss
    S Dong
    Discipline of Physiology M311, School of Biomedical Biomolecular and Chemical Sciences, The University of Western Australia, 35 Stirling Hwy, Crawley, WA 6009, Australia
    Brain Res 1342:24-32. 2010
    ..was used to investigate the topographic distribution of the alpha1 subunit of the GABA receptor (GABRA1) in guinea pig inferior colliculus after treatments that caused a unilateral loss of peripheral neural sensitivity ..
  59. doi Involvement and therapeutic potential of the GABAergic system in the fragile X syndrome
    Inge Heulens
    Department of Medical Genetics, University of Antwerp, Belgium
    ScientificWorldJournal 10:2198-206. 2010
    ..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...
  60. doi Association of alpha subunit of GABAA receptor subtype gene polymorphisms with epilepsy susceptibility and drug resistance in north Indian population
    Ritu Kumari
    Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    Seizure 19:237-41. 2010
    ..The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-..
  61. doi Evidence for epistatic interactions in antiepileptic drug resistance
    Myeong Kyu Kim
    Department of Neurology, Chonnam National University Medical School, Gwangju, Korea
    J Hum Genet 56:71-6. 2011
    ..The MDR method indicated that a combination of four SNPs (rs12658835 and rs35166395 from GABRA1, rs2228622 from EAAT3 and rs2304725 from GAT3) was the best model for predicting susceptibility to AED resistance ..
  62. pmc Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex
    William H Roden
    Seattle Children s Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA
    Neurosci Lett 483:167-72. 2010
    ....
  63. pmc Numerous classes of general anesthetics inhibit etomidate binding to gamma-aminobutyric acid type A (GABAA) receptors
    Guo dong Li
    Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, UCLA, Los Angeles, California 90095, USA
    J Biol Chem 285:8615-20. 2010
    ....
  64. doi 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
    Maurizio Anzini
    Dipartimento Farmaco Chimico Tecnologico and European Research Centre for Drug Discovery and Development, Università degli Studi di Siena, Via A Moro, 53100 Siena, Italy
    J Med Chem 54:5694-711. 2011
    ..Finally, some compounds were submitted to molecular docking calculations along with molecular dynamics simulations in the Cromer's GABA(A) homology model...
  65. doi Advances on the genetics of mendelian idiopathic epilepsies
    Stephanie Baulac
    UPMC Inserm, UMR_S975, CRicm, F 75013, Bâtiment Pharmacie, Hopital de la Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurol Clin 27:1041-61. 2009
    ..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...
  66. doi Relation between increased anxiety and reduced expression of alpha1 and alpha2 subunits of GABA(A) receptors in Wfs1-deficient mice
    Sirli Raud
    Department of Physiology, University of Tartu, 19 Ravila Street, 50411 Tartu, Estonia
    Neurosci Lett 460:138-42. 2009
    ..Experimentally naïve Wfs1-deficient animals displayed a significant down-regulation of alpha1 (Gabra1) and alpha2 (Gabra2) subunits of GABA(A) receptors in the temporal lobe and frontal cortex...
  67. doi Synbiotics reduce allergen-induced T-helper 2 response and improve peak expiratory flow in allergic asthmatics
    M A van de Pol
    Department of Pulmonology, Academic Medical Center University of Amsterdam, Amsterdam, The Netherlands
    Allergy 66:39-47. 2011
    ..Previous studies suggest that pre/probiotics can be used in the prevention and treatment of early allergic disease in newborns and young children...
  68. pmc Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X
    Jing Qiong Kang
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37212, USA
    J Neurosci 29:2833-44. 2009
    ..dominant mutation associated with childhood absence epilepsy that generates a PTC in exon 8 of the 9 exon GABRA1 gene that is 74 bp upstream of intron 8...
  69. ncbi Radiation hybrid map of 13 loci on the long arm of chromosome 5
    J A Warrington
    Department of Biological Chemistry, College of Medicine, University of California, Irvine 92717
    Genomics 11:701-8. 1991
    ..encoding growth factors, growth factor receptors, or hormone receptors (IL3, IL4, IL5, CSF1R, FGFA, ADRB2, GRL, GABRA1, and DRD1) as well as four other loci (FER, SPARC, RPS14, and CD14) to generate a radiation hybrid map of the area ..
  70. ncbi Gating allosterism at a single class of etomidate sites on alpha1beta2gamma2L GABA A receptors accounts for both direct activation and agonist modulation
    Dirk Rüsch
    Department of Anesthesia and Critical Care, Massachusetts General Hospital, Boston, MA 02114, USA
    J Biol Chem 279:20982-92. 2004
    ..This model also correctly predicts the actions of etomidate on GABA(A) receptors containing a point mutation that increases constitutive gating activity...
  71. ncbi GABAA receptor alpha1 and alpha6 subunits mediate cell surface anchoring in cultured cells
    Macarena Peran
    Departamento de Bioquimica, Facultad de Medicina, Universidad de Malaga, Campus de Teatinos, Malaga 29080, Spain
    Neurosci Lett 364:67-70. 2004
    ..We show that the alpha1 and alpha6 subunits immobilize recombinant GABAAR in transfected cells. This is consistent with the immobility of native receptors in CG cells, which express alpha1 and alpha6...
  72. ncbi 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
    Martin J Gallagher
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37212, USA
    J Neurosci 24:5570-8. 2004
    ....
  73. ncbi Effects on fear reactivity in XO mice are due to haploinsufficiency of a non-PAR X gene: implications for emotional function in Turner's syndrome
    Anthony R Isles
    Neurobiology and Developmental Genetics Programmes, The Babraham Institute, Cambridge, UK
    Hum Mol Genet 13:1849-55. 2004
    ..levels of a number of GABAA subunits previously shown to be important components of fear processing (Gabra3, Gabra1 and Gabrg2) were also altered...
  74. ncbi Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians
    P F Foley
    Department of Biochemistry, School of Molecular and Microbial Sciences, University of Queensland, St Lucia, Brisbane, Australia
    Ann N Y Acad Sci 1025:39-46. 2004
    ..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...
  75. ncbi Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro
    B P B Rambags
    Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands
    Mol Reprod Dev 72:77-87. 2005
    ..aimed to validate fluorescent in situ hybridization (FISH) probes to label specific equine chromosomes (ECA2 and ECA4) in interphase nuclei and thereby determine whether numerical chromosome abnormalities occur in horse embryos ..
  76. ncbi Strong bias in the location of functional promoter polymorphisms
    Paul R Buckland
    Department of Psychological Medicine, Cardiff University, Cardiff, United Kingdom
    Hum Mutat 26:214-23. 2005
    ..polymorphisms that are reported here for the first time include AGTRL2, CAT, CHRNA5, CTSG, CYP2D6, DLD, ERCC1, GABRA1, GABRP, HNRPH3, HIP1, IGKV1-9, KCNJ15, KCNK6, KLK1, MSMB, MYOC, NPY2R, NOTCH4, ORM2, PEDF, PTPRCAP, ST16 (IL24), ..
  77. ncbi 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
    Martin J Gallagher
    Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232, USA
    J Biol Chem 280:37995-8004. 2005
    ....
  78. pmc Surface expression of GABAA receptors is transcriptionally controlled by the interplay of cAMP-response element-binding protein and its binding partner inducible cAMP early repressor
    Yinghui Hu
    Laboratory of Translational Epilepsy, Department of Pharmacology and Experimental Therapeutics, Boston University School of Medicine, Boston, MA 02118, USA
    J Biol Chem 283:9328-40. 2008
    ..It is also associated with a variety of neurological diseases. Changes in GABA(A) receptor alpha1 subunit gene (GABRA1) expression have been reported in animal models of epilepsy, alcohol abuse, withdrawal, and stress...
  79. ncbi A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties
    Janet L Fisher
    Department of Pharmacology, Physiology and Neuroscience, University of South Carolina School of Medicine, Blg 1 Rm D23, Columbia, SC 29209, USA
    Neuropharmacology 46:629-37. 2004
    ..Therefore, production of the mutated subunit could cause global hyperexcitability throughout the brain, leading to generalized seizures with juvenile onset...
  80. ncbi Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients
    Georg Winterer
    Department of Psychiatry, Benjamin Franklin University Hospital, Free University of Berlin, Berlin, Germany
    Behav Genet 33:7-15. 2003
    ....
  81. ncbi Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis
    A A Hicks
    MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom
    Genomics 20:285-8. 1994
    ..87 at a theta of 0.069 (males) and 0.100 (females). These results reveal the clustering of GABRA6, GABRA1, and the GABAA receptor gamma 2-subunit gene (GABRG2) on distal chromosome 5q.
  82. ncbi Assignment of genes encoding GABAA receptor subunits alpha 1, alpha 6, beta 2, and gamma 2 to a YAC contig of 5q33
    M Kostrzewa
    Institut fur Humangenetik, Justus Liebig Universitat Giessen, Germany
    Eur J Hum Genet 4:199-204. 1996
    A gene cluster consisting of the four gamma-aminobutyric acidA (GABAA) receptor subunit genes GABRA1, GABRA6, GABRAB2, and GABRG2 was assigned to a yeast artificial chromosome (YAC) contig of 5q33...
  83. ncbi No interaction of GABA(A) alpha-1 subunit and dopamine receptor D4 exon 3 genes in symptomatology of major psychoses
    A Serretti
    Department of Neuroscience, Istituto Scientifico H San Raffaele, University of Milan School of Medicine, Italy
    Am J Med Genet 88:44-9. 1999
    ..cohort of subjects to evaluate the gene for the gamma-aminobutyric acid type A (GABA(A)) receptor alpha-1 subunit (GABRA1)...
  84. ncbi Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
    A Kapoor
    Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Jakkur, Bangalore 560 064, India
    J Genet 82:17-21. 2003
    An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family...
  85. ncbi Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
    Patrick Cossette
    Centre for Research in Neuroscience, McGill University Health Center Research Institute and McGill University, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada
    Nat Genet 31:184-9. 2002
    ..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 ..
  86. ncbi Association of protein kinase C with GABA(A) receptors containing alpha1 and alpha4 subunits in the cerebral cortex: selective effects of chronic ethanol consumption
    Sandeep Kumar
    Bowles Center for Alcohol Studies, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7178, USA
    J Neurochem 82:110-7. 2002
    ..These results suggest that PKCgamma may be involved in GABA(A) receptor adaptations following chronic ethanol consumption...
  87. pmc Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
    S G Ryan
    Department of Pediatrics, University of Texas Health Science Center, San Antonio 78284
    Am J Hum Genet 51:1334-43. 1992
    ..RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.
  88. ncbi Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han
    Y T Chang
    Mol Psychiatry 7:828-9. 2002
  89. ncbi Interaction of calcineurin and type-A GABA receptor gamma 2 subunits produces long-term depression at CA1 inhibitory synapses
    Jian Wang
    Neuroscience Research Group, Department of Physiology and Biophysics, Faculty of Medicine, University of Calgary, Calgary, Canada, T2N 4N1
    J Neurosci 23:826-36. 2003
    ..Thus, an activity-dependent physical and functional interaction between CaN and GABA(A) receptors is both necessary and sufficient for inducing LTD at CA1 individual inhibitory synapses...
  90. ncbi Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
    Neurosci Lett 394:74-8. 2006
    ..We conclude that these genes are not a major genetic factor in familial TLE preceded by FS...
  91. pmc Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population
    Chul Soo Park
    Department of Psychiatry, College of Medicine, Gyeongsang National University, Jinju, Korea
    J Korean Med Sci 21:533-8. 2006
    ....
  92. pmc Investigation of autism and GABA receptor subunit genes in multiple ethnic groups
    Ann L Collins
    Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
    Neurogenetics 7:167-74. 2006
    ..0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype...
  93. ncbi Association between GABRA1 and drinking behaviors in the collaborative study on the genetics of alcoholism sample
    Danielle M Dick
    Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Alcohol Clin Exp Res 30:1101-10. 2006
    ....
  94. ncbi Antithymocyte globulin induces complement-dependent cell lysis and caspase-dependent apoptosis in myeloma cells
    Francis A Ayuk
    Department of Bone Marrow Transplantation, University Medical Center Hamburg Eppendorf, Germany
    Exp Hematol 33:1531-6. 2005
    ..Because both agents have been reported to induce depletion of B cells, we sought to investigate their cytotoxic activity on myeloma cells...
  95. pmc A primary male autosomal linkage map of the horse genome
    G Lindgren
    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S 751 24 Uppsala, Sweden
    Genome Res 8:951-66. 1998
    ..into 25 linkage groups, 22 of which could be assigned physically to 18 different chromosomes (ECA1, ECA2, ECA3, ECA4, ECA5, ECA6, ECA7, ECA9, ECA10, ECA11, ECA13, ECA15, ECA16, ECA18, ECA19, ECA21, ECA22, and ECA30)...
  96. ncbi Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
    Shaochun Ma
    Department of Neurology, Vanderbilt University, 465 21st Avenue South, 6140 MRB III, Nashville, TN 37232 8552, USA
    Epilepsy Res 71:129-34. 2006
    ..Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME...
  97. ncbi Genetics of idiopathic generalized epilepsies
    Mark Gardiner
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Epilepsia 46:15-20. 2005
    ..in SCN1A, SCN2A, SCN1B, and GABRG2, autosomal-dominant juvenile myoclonic epilepsy (JME) due to a mutation in GABRA1 and mutations in CLCN2 associated with several IGE sub-types...
  98. ncbi GABA(A)-receptor mRNA expression in the prefrontal and temporal cortex of ALS patients
    Susanne Petri
    Department of Neurology, Hannover Medical School, Carl Neuberg Str 1, 30623 Hannover, Germany
    J Neurol Sci 250:124-32. 2006
    ..In the occipital and cerebellar cortex, we did not see disease-specific differences of the mRNA expression of the investigated subunits...
  99. ncbi Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study
    A Bartocci
    S C di Neurofisiopatologia Azienda Ospedaliera R Silvestrini, S Andrea della Fratte, I 06156, Perugia, Italy
    Neurol Sci 28:276-8. 2007
    ..in position 10 in the intron 3 (rs949626) of the EFHC1 gene; and a polymorphism (T-->C) of the exon of the GABRA1 gene, without aminoacidic exchange...
  100. ncbi Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia
    Koubun Imai
    Department of Psychiatry, Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan
    Am J Med Genet 114:605-8. 2002
    ..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...
  101. ncbi An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits
    Tim G Hales
    Department of Pharmacology and Physiology
    J Biol Chem 281:17034-43. 2006
    ..Moreover, the conserved TM2-3 loop lysine has an asymmetric function in different GABAA subunits...

Research Grants68

  1. GABA-A Receptor Gene Transfer to Prevent Epileptogenesis
    SHELLEY RUSSEK; Fiscal Year: 2004
    ..expression play a critical role in the process of epileptogenesis by re- establishing normal levels of GABRA4 and GABRA1 following pilocarpine-induced SE and determining whether development of spontaneous seizures is subsequently ..
  2. RESOLVING HETEROGENEITY IN EPILEPSY WITH GENETIC MARKERS
    David Greenberg; Fiscal Year: 1999
    ..JME has been shown to be genetically linked to the HLA region of chromosome 6. This JME locus has been designated EJM-1...
  3. GABA(A) Receptor Subunit Regulation in Epileptogenesis
    SHELLEY JUNE RUSSEK; Fiscal Year: 2010
    ..identified long-term changes in GABAR a subunit gene expression, including decreases in expression of the a1 gene (Gabra1) in rat hippocampal dentate granule neurons following status epilepticus (SE) that are associated with later ..
  4. Vulnerability Factors and Drinking in Adulthood
    Michael Windle; Fiscal Year: 2009
    ..The DNA from the 782 adults will be used to conduct candidate gene analyses for GABRA2, GABRA1, CHRM2, CRHR1, CNR1, 5HTTLPR, and DRD2 for alcohol and depression phenotypes...
  5. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2009
    ..The results may reveal general motifs for action in other systems affected by alcohol and aid in the design of alcohol antagonists. ..
  6. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2004
    ..In summary, these computational studies will provide new knowledge about determinants of alcohol binding and efficacy. ..
  7. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2007
    ..The results may reveal general motifs for action in other systems affected by alcohol and aid in the design of alcohol antagonists. ..
  8. Dimensions and Polarity of Anesthetic Binding SItes
    James Trudell; Fiscal Year: 2004
    ..Building a more complete 3-dimensional model of an anesthetic binding site will allow us to define those molecular properties that confer distinct pharmacologies on volatile anesthetics. ..
  9. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
    ..3) Search for the second gene (EPM2B) for Lafora's PME. These advances raise our hopes for developing treatment(s) for this fatal epilepsy. ..
  10. abg and abd GABAAR Assembly/Trafficking/Function and Epilepsy Missense Mutations
    Robert MacDonald; Fiscal Year: 2009
    ....
  11. GABAergic Dysfunction in Autism
    SEYYED FATEMI; Fiscal Year: 2009
    ..Such outcomes will be significant, because they are expected to identify biochemical mechanisms responsible for abnormal brain development in early childhood, as seen in autism. ..
  12. GABAergic and Reelin Deficits in Schizophrenia
    SEYYED HOSSEIN FATEMI; Fiscal Year: 2010
    ..subjects with bipolar disorder, major depression, and matched controls. Such outcomes will be significant, because they are expected to identify biochemical mechanisms responsible for abnormal brain development. ..
  13. GABAergic Dysfunction in Autism
    SEYYED FATEMI; Fiscal Year: 2009
    ..Such outcomes will be significant, because they are expected to identify biochemical mechanisms responsible for abnormal brain development in early childhood, as seen in autism. ..
  14. Varenicline and Smoking Cessation in Schizophrenia
    SEYYED HOSSEIN FATEMI; Fiscal Year: 2010
    ..Such outcomes will be significant, because they will offer a new treatment for smoking cessation in this vulnerable population. ..
  15. GABAergic Dysfunction in Autism
    SEYYED HOSSEIN FATEMI; Fiscal Year: 2010
    ..Such outcomes will be significant, because they are expected to identify biochemical mechanisms responsible for abnormal brain development in early childhood, as seen in autism. ..
  16. abg and abd GABAAR Assembly/Trafficking/Function and Epilepsy Missense Mutations
    ROBERT LOUDEN MACDONALD; Fiscal Year: 2010
    ....
  17. Function and trafficking of GABA receptor with gamma2 subunit truncation
    ROBERT LOUDEN MACDONALD; Fiscal Year: 2010
    ....
  18. Varenicline and Smoking Cessation in Schizophrenia
    SEYYED FATEMI; Fiscal Year: 2009
    ..Such outcomes will be significant, because they will offer a new treatment for smoking cessation in this vulnerable population. ..
  19. Prenatal Virally Induced Brain Disorder in Mouse
    SEYYED FATEMI; Fiscal Year: 2009
    ..In addition, it is expected that the results will provide clues that will lead to fundamental advances in our knowledge of the pathogenesis of schizophrenia and, therefore, of how it can be prevented and treated. ..
  20. abg and abd GABAAR Assembly/Trafficking/Function and Epilepsy Missense Mutations
    ROBERT LOUDEN MACDONALD; Fiscal Year: 2011
    ....
  21. Structural Determinants of GABA-A receptor function
    Janet Fisher; Fiscal Year: 2007
    ..The results of this work will help us to understand how variations in the alpha subunit composition of native GABARs can affect the properties of neurons and their responses to GABA. ..
  22. RECOMBINANT/NATIVE GABAA RECEPTORS
    Robert MacDonald; Fiscal Year: 2002
    ..7) Structural bases for the biophysical properties of recombinant GABAR isoforms that are assembled from GABAR subtypes expressed in hippocampal dentate granule cells. ..
  23. PKA & PKC REGULATION OF NT2-N & RECOMBINANT GABARS
    Robert MacDonald; Fiscal Year: 2003
    ..7) The NT2 and NT2-N GABAR subtype protein phosphorylated by PKA and PKC. 8) The biophysical mechanisms PKA and PKC modification of NT2 and NT2-N GABAR currents. ..
  24. GABA-A Receptor Function in Pediatric Focal Cortical Dysplasia
    LAURA JANSEN; Fiscal Year: 2007
    ..An Advisory Committee consisting of established investigators within the Department of Neurology will also be assembled to provide additional guidance. ..
  25. Function and trafficking of GABA receptor with gamma2 subunit truncation
    Robert MacDonald; Fiscal Year: 2007
    ....
  26. GABA-A Receptor Alpha 1 Subunit Degradation and Its Association with Epilepsy
    Martin Gallagher; Fiscal Year: 2007
    ..The non-conserved, missense mutation A322D in the GABA-A receptor alpha 1 subunit gene (GABRA1) is associated with an autosomal dominant form of juvenile myoclonic epilepsy (ADJME)...
  27. Physiologic Analysis of Two GABAR Gamma2-Subunit Domains
    Martin Gallagher; Fiscal Year: 2006
    ..Such an environment maximizes the probability that the principal investigator will establish a scientific niche and embark upon a successful independent academic career. ..
  28. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
    ....
  29. Prenatal Virally Induced Brain Disorder in Mouse
    S Fatemi; Fiscal Year: 2007
    ..In addition, it is expected that the results will provide clues that will lead to fundamental advances in our knowledge of the pathogenesis of schizophrenia and, therefore, of how it can be prevented and treated. ..
  30. GABA-A Receptor Alpha 1 Subunit Mutations and Epilepsy
    Martin J Gallagher; Fiscal Year: 2010
    ..The hypotheses to be tested are: 1) because 11 subunit expression increases throughout development, GABRA1 epilepsy mutations will reduce total GABAAR subunit protein and produce neurons with smaller IPSC amplitudes ..