GABRG2

Summary

Gene Symbol: GABRG2
Description: gamma-aminobutyric acid type A receptor gamma2 subunit
Alias: CAE2, ECA2, GEFSP3, gamma-aminobutyric acid receptor subunit gamma-2, GABA(A) receptor subunit gamma-2, GABA(A) receptor, gamma 2, gamma-aminobutyric acid (GABA) A receptor, gamma 2
Species: human

Top Publications

  1. 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
  2. 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
  3. 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
  4. ncbi Haplotype-based localization of an alcohol dependence gene to the 5q34 {gamma}-aminobutyric acid type A gene cluster
    Marta Radel
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, USA
    Arch Gen Psychiatry 62:47-55. 2005
  5. pmc The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression
    Jing Qiong Kang
    Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee 37212, USA
    J Neurosci 29:2845-56. 2009
  6. ncbi [Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]
    Hua Lin
    Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing 100053, China
    Zhonghua Yi Xue Za Zhi 88:3177-81. 2008
  7. ncbi Febrile seizures: traffic slows in the heat
    Samuel F Berkovic
    Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia
    Trends Mol Med 12:343-4. 2006
  8. doi A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+
    Neeti Hindocha
    Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, United Kingdom
    Epilepsia 50:937-42. 2009
  9. 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
  10. ncbi Allelic variation in the GABA A receptor gamma2 subunit is associated with genetic susceptibility to ethanol-induced motor incoordination and hypothermia, conditioned taste aversion, and withdrawal in BXD/Ty recombinant inbred mice
    H M Hood
    Department of Behavioral Neuroscience, Oregon Health Sciences University and Department of Veterans Affairs Medical Center, Portland, USA
    Alcohol Clin Exp Res 24:1327-34. 2000

Research Grants

  1. PKA & PKC REGULATION OF NT2-N & RECOMBINANT GABARS
    Robert MacDonald; Fiscal Year: 2003
  2. Properties of Specific Alcohol Binding Sites
    James Trudell; Fiscal Year: 2009
  3. Dimensions and Polarity of Anesthetic Binding SItes
    James Trudell; Fiscal Year: 2004
  4. ROBERT LOUDEN MACDONALD; Fiscal Year: 2014
  5. Jing Qiong Kang; Fiscal Year: 2016
  6. PSYCHOPHYSIOLOGY OF IRRITABLE BOWEL SYNDROME
    William E Whitehead; Fiscal Year: 2012
  7. Molecular Analysis of Epilepsy Predisposition
    John Cowell; Fiscal Year: 2006
  8. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
  9. Molecular Biology of Calcuim Channel Gamma Subunits
    Daniel Burgess; Fiscal Year: 2006
  10. Effects of prolonged seizures on GABAA receptor function
    Andre Lagrange; Fiscal Year: 2008

Detail Information

Publications186 found, 100 shown here

  1. 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
    ..of data, the predicted order of the 12 loci is cen-ADRB2-PDEA-CSF1R-RPS14-ANX6-SPARC++ +-GLRA1-GLUR1-ADRA1B-IL12- GABRG2-GABRA1-tel...
  2. 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...
  3. 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
    ..study 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 ..
  4. ncbi Haplotype-based localization of an alcohol dependence gene to the 5q34 {gamma}-aminobutyric acid type A gene cluster
    Marta Radel
    Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Rockville, MD, USA
    Arch Gen Psychiatry 62:47-55. 2005
    ..requirement for ethanol's modulatory action on GABA(A) receptors, previous linkage findings in mice and humans implicating both GABRA6 and GABRG2, and reported associations of GABRA6, GABRB2, and GABRG2 alleles with alcohol dependence.
  5. pmc The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression
    Jing Qiong Kang
    Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee 37212, USA
    J Neurosci 29:2845-56. 2009
    ..However, heterozygous gamma2(+/-) gene deletion mice are seizure free, suggesting that the loss of one GABRG2 allele alone in heterozygous patients may not be sufficient to produce epilepsy...
  6. ncbi [Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]
    Hua Lin
    Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing 100053, China
    Zhonghua Yi Xue Za Zhi 88:3177-81. 2008
    ..To study the etiologic genes of generalized epilepsy with febrile seizure plus (GEFS+)...
  7. ncbi Febrile seizures: traffic slows in the heat
    Samuel F Berkovic
    Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia
    Trends Mol Med 12:343-4. 2006
    ..A rare inherited cause--a mutation in the GABA(A) receptor subunit GABRG2 gene--has been recently shown to cause a temperature-dependent intracellular trafficking defect...
  8. doi A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+
    Neeti Hindocha
    Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, United Kingdom
    Epilepsia 50:937-42. 2009
    ..The two mutations identified in families with ADFS are in genes implicated in GEFS+, SCN1A, and GABRG2. We conclude that it is inappropriate to separate GEFS+ and ADFS at present given the clinical and genotypic ..
  9. 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
    ..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...
  10. ncbi Allelic variation in the GABA A receptor gamma2 subunit is associated with genetic susceptibility to ethanol-induced motor incoordination and hypothermia, conditioned taste aversion, and withdrawal in BXD/Ty recombinant inbred mice
    H M Hood
    Department of Behavioral Neuroscience, Oregon Health Sciences University and Department of Veterans Affairs Medical Center, Portland, USA
    Alcohol Clin Exp Res 24:1327-34. 2000
    ..a coding sequence polymorphism between the B6 and D2 strains for the GABA A receptor gamma2 subunit gene (Gabrg2). In this study, we expand our analysis to a panel of BXD strains derived from the B6 and D2 progenitor strains...
  11. doi Brain uptake of diazepam and phenytoin in a genetic animal model of absence epilepsy
    Joseph A Nicolazzo
    Drug Delivery, Disposition and Dynamics, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, Victoria 3052, Australia
    Clin Exp Pharmacol Physiol 37:647-9. 2010
    ..was assessed in a genetic mouse model of absence seizures harbouring a human GABA(A) receptor gamma2-subunit gene GABRG2 mutation (R43Q) and results were compared with those obtained during acute seizures induced by subcutaneous ..
  12. ncbi Neonatal epilepsy syndromes and GEFS+: mechanistic considerations
    Daniel L Burgess
    Baylor College of Medicine, Houston, TX, USA
    Epilepsia 46:51-8. 2005
    ..SCN1B), voltage-gated K+ channel subunits (KCNQ2, KCNQ3), and a ligand-gated neurotransmitter receptor subunit (GABRG2)...
  13. 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 ..
  14. ncbi Fine mapping of a sedative-hypnotic drug withdrawal locus on mouse chromosome 11
    H M Hood
    Department of Behavioral Neuroscience and Portland Alcohol Research Center, Oregon Health and Science University, Portland, OR 97006 8921, USA
    Genes Brain Behav 5:1-10. 2006
    ..Our results, together with recent knockout studies, point to the GABA(A) receptor gamma2 subunit gene (Gabrg2) as a promising candidate gene to underlie phenotypic differences in sedative-hypnotic physiological dependence ..
  15. 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
    ..of these 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 ..
  16. ncbi Intracortical hyperexcitability in humans with a GABAA receptor mutation
    Marco Fedi
    Department of Medicine, The University of Melbourne, Heidelberg, Victoria, Australia
    Cereb Cortex 18:664-9. 2008
    ..inhibition in the human brain is largely mediated by the GABA(A) receptor, we tested the hypothesis that the GABRG2(R43Q) mutation alters cortical excitability...
  17. doi Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
    Xiuyu Shi
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka 814 0180, Japan
    Brain Dev 31:758-62. 2009
    ..We screened for mutations of SCN1A, SCN2A and GABRG2 (the gene encoding gamma2 subunit of the GABA(A) receptor) in 59 patients with Dravet syndrome and found 29 SCN1A ..
  18. ncbi Mapping of 13 horse genes by fluorescence in-situ hybridization (FISH) and somatic cell hybrid analysis
    G Lindgren
    Department of Evolutionary Biology, Norbyvägen, Uppsala University, Sweden
    Chromosome Res 9:53-9. 2001
    ..CLU was mapped by synteny to ECA2 while human-horse ZOO-FISH data predicted that CLU would be located on ECA9...
  19. ncbi Review of genetic aspects of radiological alterations in the navicular bone of the horse
    U Diesterbeck
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Germany
    Dtsch Tierarztl Wochenschr 114:404-11. 2007
    ..Genome-wide significant QTL were on ECA2 and on ECA10...
  20. doi Alpha-synuclein deficiency affects brain Foxp1 expression and ultrasonic vocalization
    A Kurz
    Section Molecular Neurogenetics, Department Neurology, Goethe University Medical School, Frankfurt am Main, Germany
    Neuroscience 166:785-95. 2010
    ..This phenotype might also reflect the reduced expression of the anxiety-related GABA-A receptor subunit gamma 2 (Gabrg2) we observed...
  21. doi Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)
    Zulfikar Arlier
    Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, USA
    J Child Neurol 25:1265-8. 2010
    ..Mutational analysis of other responsible genes, GABRG2 and PCDH19, were unrevealing...
  22. 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.
  23. 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
    ..were arranged 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)...
  24. ncbi Clinical and genetic analysis of a new multigenerational pedigree with GEFS+ (Generalized Epilepsy with Febrile Seizures Plus)
    Frédérique Gérard
    INSERM U491, Marseille, France
    Epilepsia 43:581-6. 2002
    ..Several genes have been localized for FS by linkage analysis, and three GEFS+ genes (SCN1A, SCN1B, GABRG2) have been identified. We identified a large multigenerational family with GEFS+ in France...
  25. 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...
  26. ncbi A novel GABRG2 mutation associated with febrile seizures
    D Audenaert
    Neurogenetics Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    Neurology 67:687-90. 2006
    Mutations in the gene encoding the gamma2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+)...
  27. doi A novel locus for generalized epilepsy with febrile seizures plus in French families
    Stephanie Baulac
    INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Arch Neurol 65:943-51. 2008
    ..subunit gene (SCN1A), the sodium channel beta1 subunit gene (SCN1B), and the gamma2 GABA receptor subunit gene (GABRG2)--and linkage to 2 other loci on 2p24 and 21q22 have been identified in families with GEFS(+), indicating genetic ..
  28. ncbi Gene symbol: GABRG2. Disease: Generalized epilepsy with febrile seizures plus
    Huihui Sun
    Peking University, First Hospital, Pediatrics, Xian Men Street, NO, 1, 100034 Beijing, People s Republic of China
    Hum Genet 124:298. 2008
  29. doi Simultaneous evaluation of four PCR primer sets for the diagnosis of Streptococcus phocae infection
    R Avendaño-Herrera
    Laboratorio de Veterquímica, Camino Melipilla 5641, Cerrillos, Santiago, Chile
    Dis Aquat Organ 82:217-22. 2008
    ..phocae. Correct identification was also achieved with the primer pairs cael-cae2 and PX1-PX2, but using the reverse complementary version of both reverse primers (caeVQ2 and PXVQ2, respectively)...
  30. doi Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators
    Wendy Ooteman
    Amsterdam Institute for Addiction Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Addict Biol 14:328-37. 2009
    ..This provides evidence for the matching potential of genotypes. It is expected that more effective treatments can be offered when genetic information is used in patient-treatment-matching...
  31. pmc Inverse effects on gating and modulation caused by a mutation in the M2-M3 Linker of the GABA(A) receptor gamma subunit
    Sean M O'Shea
    Department of Anesthesiology, Emory University University School of Medicine, Atlanta, Georgia, USA
    Mol Pharmacol 76:641-51. 2009
    ..Our results also suggest that in wild-type receptors, propofol exerts its enhancing effects by mechanisms extrinsic to channel gating...
  32. doi Modulation of human GABAA receptor function: a novel mode of action of drugs of abuse
    L Hondebrink
    Neurotoxicology Research Group, Institute for Risk Assessment Sciences IRAS, Utrecht University, P O Box 80 177, NL 3508 TD Utrecht, The Netherlands
    Neurotoxicology 32:823-7. 2011
    ..Consequently, hGABA(A)-Rs should be considered as target for psychiatric pharmaceuticals and in developing treatment for drug intoxications...
  33. doi A human mutation in Gabrg2 associated with generalized epilepsy alters the membrane dynamics of GABAA receptors
    Walid Bouthour
    Institut National de la Sante et de la Recherche Medicale, Unité Mixte de Recherche en Santé 839, 75005 Paris, France
    Cereb Cortex 22:1542-53. 2012
    ..Alteration of the membrane diffusion of neurotransmitter receptors therefore represents a new mechanism in human epilepsy...
  34. doi Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area
    Agata Polizzi
    National Centre for Rare Diseases, Superior Institute of Health, Rome, Italy
    Childs Nerv Syst 28:141-5. 2012
    Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS(+)) and their affected and some unaffected family members, coming from a restricted geographic ..
  35. pmc Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation
    Mengnan Tian
    Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Neurobiol Dis 50:135-41. 2013
    ..underlying generalized epilepsy and febrile seizures plus (GEFS+) in a family with a novel γ2 subunit gene (GABRG2) frameshift mutation. Four affected and one unaffected individuals carried a c...
  36. doi The impact of genetic factors on response to anaesthetics
    A Mikstacki
    Department of Anaesthesiology and Intensive Therapy, Regional Hospital, Poznan, Poland
    Adv Med Sci 58:9-14. 2013
    ..Molecular studies have shown that polymorphic changes in GABRG2 receptor gene turn out to be important in the propofol anaesthesia...
  37. pmc Human immunodeficiency virus-1 Tat protein increases the number of inhibitory synapses between hippocampal neurons in culture
    Nicholas J Hargus
    Department of Pharmacology, University of Minnesota, Minneapolis, Minnesota 55455
    J Neurosci 33:17908-20. 2013
    ....
  38. pmc Etomidate produces similar allosteric modulation in α1β3δ and α1β3γ2L GABA(A) receptors
    H J Feng
    Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    Br J Pharmacol 171:789-98. 2014
    ....
  39. pmc A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes
    Ann J Johnston
    Wales Epilepsy Research Network, Institute of Life Sciences, College of Medicine, Swansea University, Singleton Park, Swansea SA2 8PP, UK Neurology and Molecular Neuroscience Research Group, Institute of Life Sciences, College of Medicine, Swansea University, Singleton 8PP, UK Department of Neurology, University Hospital of Wales, Heath Park, Cardiff CF14 4X, UK
    Neurobiol Dis 64:131-41. 2014
    ..of GEFS+ and screened for variations in the γ2 subunit of the γ-aminobutyric acid (GABA) type A receptor gene (GABRG2). We detected a novel GABRG2(p...
  40. pmc Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents
    Xuan Huang
    The Graduate Program of Neuroscience, Vanderbilt University Medical Center, Nashville, TN 37212, USA Departments of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Neurobiol Dis 68:167-79. 2014
    ..Thus epilepsy-associated mutations N79S, R82Q and P83S disrupted GABAA receptor assembly to different extents, an effect that could be potentially rescued by facilitating protein folding and assembly. ..
  41. doi GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)
    Emily Todd
    Program in Neuroscience, Vanderbilt University, Nashville, TN 37232, USA
    Neurobiol Dis 69:215-24. 2014
    ..These findings support an emerging body of literature implicating defects in GABAA receptor biogenesis in the pathogenesis of genetic epilepsies (GEs) and FS. ..
  42. doi Assembly, trafficking and function of α1β2γ2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner
    Lik Wei Wong
    Health Innovation Research Institute, School of Medical Sciences, RMIT University, Melbourne, Vic, Australia
    J Neurochem 134:819-32. 2015
    ..Indeed, robust receptor levels remain when the extension and α-helix are removed in β or γ subunits...
  43. doi 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
    Tamara Stojanovic
    Institute of Neurology, Neurodegeneration Research Group, Medical University of Vienna, Vienna, Austria
    J Comp Neurol 524:1805-24. 2016
    ..Interestingly, subunit expression in several instances differed between human and rodent brain, underlining the importance of immunohistochemical studies in humans...
  44. doi The effects of stress during early postnatal periods on behavior and hippocampal neuroplasticity markers in adult male mice
    M A van der Kooij
    Laboratory of Behavioral Genetics, Brain Mind Institute, School of Life Sciences, Ecole Polytechnique Federale de Lausanne EPFL, Switzerland Johannes Gutenberg University Medical Centre, Department of Psychiatry and Psychotherapy and Focus Program Translational Neurosciences, Mainz, Germany
    Neuroscience 311:508-18. 2015
    ..We analyzed hippocampal gene expression of the γ2 subunit of the GABAa receptor (Gabrg2) and of genes encoding cell adhesion molecules...
  45. pmc Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy
    Timothy A Warner
    Departments of Neurology
    Hum Mol Genet 25:3192-3207. 2016
    ..b>GABRG2 is an established epilepsy gene, and mutations in it produce epilepsy syndromes with varying severities...
  46. pmc RNA binding protein Nova1 promotes tumor growth in vivo and its potential mechanism as an oncogene may due to its interaction with GABAA Receptor-γ2
    Yi an Zhang
    Department of Hematology, Zhongshan Hospital of Fudan University, Zhongshan Hospital, No 180 Fenglin Road Xuhui District, Shanghai, China
    J Biomed Sci 23:71. 2016
    ..This study is aimed to make it clear the distribution, prognostic value of GABAARγ2 in human hepatocellular carcinoma. And its role in HCC tumorigenesis under the regulation of its alternative splicing factor Nova1...
  47. doi Characterization and in vitro evaluation of new bacteriophages for the biocontrol of Escherichia coli
    Carla Pereira
    Department of Biology and CESAM, University of Aveiro, Campus Universitario de Santiago, 3810 193, Aveiro, Portugal
    Virus Res 227:171-182. 2017
    In the present study two new phages (phT4A and ECA2) were characterized and their efficacy was evaluated separately and in cocktail (phT4A/ECA2) to control Escherichia coli...
  48. ncbi Investigation of the effects of GABA receptor agonists in the differentiation of human induced pluripotent stem cells into dopaminergic neurons
    S A Antonov
    Instiute of molecular genetics of Russian Academy of sciences, Moscow, Russia
    Dokl Biol Sci 470:244-246. 2016
    ..Thus, the presence of active GABA-A receptors, associated with phenotype determination via Ca2+-signalling was demonstrated in differentiating human DA neurons...
  49. ncbi GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man
    T M DeLorey
    Molecular Research Institute, CA 94304, USA
    Epilepsy Res 36:123-32. 1999
    ..gene (TNAP) and genes for the GABA(A) receptor subunits alpha6, beta3, gamma2, and delta (gabra6, gabrb3, gabrg2, and gabrd respectively)...
  50. ncbi Transcriptional regulation of the mouse cytosolic chaperonin subunit gene Ccta/t-complex polypeptide 1 by selenocysteine tRNA gene transcription activating factor family zinc finger proteins
    H Kubota
    HSP Research Institute, Kyoto Research Park, Shimogyo ku, Kyoto 600 8813, Japan
    J Biol Chem 275:28641-8. 2000
    ..at -70 and -20 base pairs (designated CCT alpha subunit gene transcription activating element 1 (CAE1) and CAE2, respectively)...
  51. ncbi Ion channels and epilepsy
    H Lerche
    Department of Applied Physiology, Univeristy of Ulm, Germany
    Am J Med Genet 106:146-59. 2001
    ..seizures plus by mutations in subunits of the voltage-gated sodium channel or the GABA(A) receptor (SCN1B, SCN1A, GABRG2), and episodic ataxia type 1-which is associated with epilepsy in a few patients--by mutations within another ..
  52. ncbi Channelopathies can cause epilepsy in man
    Ortrud K Steinlein
    Institute of Human Genetics, Friedrich Wilhelms University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Eur J Pain 6:27-34. 2002
    ..The voltage-gated sodium channel subunits SCN1B, SCN1A and SCN2A as well as the GABRG2 subunit of the GABA(A) receptor are involved in the pathology of the newly described syndrome generalized epilepsy ..
  53. ncbi Molecular basis of an inherited epilepsy
    Christoph Lossin
    Division of Genetic Medicine, Center for Molecualr Neurosciences, Vanderbilt University, Nashville, TN 37232, USA
    Neuron 34:877-84. 2002
    ..for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) have been identified...
  54. pmc The gamma2 subunit of GABA(A) receptors is a substrate for palmitoylation by GODZ
    Cheryl A Keller
    Department of Biology, The Pennsylvania State University, University Park, Pennsylvania 16802, USA
    J Neurosci 24:5881-91. 2004
    ....
  55. ncbi Gene expression profile analysis in human T lymphocytes from patients with Down Syndrome
    S Giannone
    Center for Research in Molecular Genetics Fondazione CARISBO, at the Institute of Histology and General Embriology, University of Bologna, V Belmeloro 8, 40126 Bologna, Italy
    Ann Hum Genet 68:546-54. 2004
    ..of the superoxide dismutase gene (SOD1), located on 21q, and of MHC DR beta 3 (HLA-DRB3), GABA receptor A gamma 2 (GABRG2), acetyltransferase Coenzyme, A 2 (ACAT2) and ras suppressor protein 1 (RSU1) genes...
  56. pmc A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
    D Audenaert
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
    J Med Genet 42:947-52. 2005
    ..Using positional cloning strategies, mutations in SCN1B, SCN1A, and GABRG2 have been identified as genetic causes of GEFS+...
  57. ncbi A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding
    Marco Fedi
    Department of Medicine, The University of Melbourne, Austin Health Heidelberg, Victoria, Australia
    Neuroimage 32:995-1000. 2006
    ..We tested the hypothesis that individuals affected by the GABRG2(R43Q) mutation have reduced binding to the GABA(A) receptor complex using positron emission tomography (PET) and ..
  58. 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
    ..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 as a susceptibility ..
  59. ncbi Familial occurrence of early-onset childhood absence epilepsy
    Luigi Titomanlio
    Department of Pediatrics, Child Neurology Unit, Federico II University, Via S Pansini, Naples, Italy
    Eur J Paediatr Neurol 11:178-80. 2007
    ..Direct sequencing of the candidate genes CLCN2 ,GABRG2 and CHRNA4 showed no mutations...
  60. doi Fine mapping a quantitative trait locus on horse chromosome 2 associated with radiological signs of navicular disease in Hanoverian warmblood horses
    M S Lopes
    Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bunteweg 17p, 30559 Hannover, Germany
    Anim Genet 40:955-7. 2009
    ..The results support the location of the QTL on ECA2 associated with RAC...
  61. doi Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study
    Elke Ziegler
    Department of Neurology, Medical University Hannover, 30625 Hanover, Germany
    Naunyn Schmiedebergs Arch Pharmacol 380:277-91. 2009
    ..Our data clarify the role of steroid compounds in the modulation of inhibitory receptor channel function...
  62. 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
    ..autosomal 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...
  63. doi Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus
    Hua Lin
    Department of Neurology, Xuanwu Hospital, Capital Medical University, 45 Changchun Street, Beijing 100053, China
    Neurosci Lett 500:123-8. 2011
    ..to investigate the importance of coding and noncoding regions variations of four known GEFS+ genes (SCN1A, SCN1B, GABRG2 and SCN2A) in Chinese families...
  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 Investigation of the role of the GABRG2 gene variant in migraine
    Timothy Chen
    Griffith Health Institute, Genomics Research Centre, Griffith University, Queensland, Australia
    J Neurol Sci 318:112-4. 2012
    ..In this study, a GABRG2 gene (GABAA receptor gamma-2-subunit) SNP (rs211037) was genotyped on a migraine case-control population of 546 (..
  66. doi Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population
    Lívia Leite Góes Gitaí
    Department of Cell, Molecular Biology, Institute of Biological Sciences and Health, AL, Brazil
    Neurol India 60:585-8. 2012
    ..Because of widespread distribution in the central nervous system (CNS) and their ability to produce postsynaptic inhibition, GABA (A) receptor subunits (GABRs) encoding genes represent high ranking candidates for epilepsy susceptibility...
  67. pmc A unified model of the GABA(A) receptor comprising agonist and benzodiazepine binding sites
    Rikke Bergmann
    Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
    PLoS ONE 8:e52323. 2013
    ..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...
  68. 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
    ..vgat) and GABA transporter 1 (gat1), and select GABAA receptor subunits (gabra1, gabra5, gabrb1, gabrb2, gabrg1, gabrg2)...
  69. pmc Association of gamma-aminobutyric acid A receptor α2 gene (GABRA2) with alcohol use disorder
    Dawei Li
    1 Department of Psychiatry, School of Medicine, Yale University, New Haven, CT, USA 2 Department of Microbiology and Molecular Genetics, University of Vermont, Burlington, VT, USA 3 Department of Computer Science, University of Vermont, Burlington, VT, USA 4 Neuroscience, Behavior, and Health Initiative, University of Vermont, Burlington, VT, USA
    Neuropsychopharmacology 39:907-18. 2014
    ..traits, we performed a meta-analysis of variants in the GABAA receptor genes (GABRB2, GABRA6, GABRA1, and GABRG2 on chromosome 5q and GABRA2 on chromosome 4p12) using genotype data from 4739 cases of alcohol, opioid, or ..
  70. pmc Co-expression of γ2 subunits hinders processing of N-linked glycans attached to the N104 glycosylation sites of GABAA receptor β2 subunits
    Wen yi Lo
    Department of Neurology, Vanderbilt University, Nashville, TN, 37232, USA
    Neurochem Res 39:1088-103. 2014
    ..This γ2 subunit-dependent effect was strong enough that a decrease of γ2 subunit expression in heterozygous GABRG2 knockout (γ2(+/-)) mice led to appreciable changes in the endoglycosidase H digestion pattern of neuronal β2 ..
  71. doi Association study of GABRG2 polymorphisms with suicidal behaviour in schizophrenia patients with alcohol use disorder
    Clement C Zai
    Neurogenetics Section, Neuroscience Research Department, Centre for Addiction and Mental Health, Toronto, Ont, Canada
    Neuropsychobiology 69:154-8. 2014
    ..Several genes coding for GABAA subunits, including the GABRG2 gene that encodes the γ2 subunit, are clustered at 5q31-q35, a chromosomal region that is associated with ..
  72. doi Variants in SELL, MRPS36P2, TP63, DDB2, CACNA1H, ADAM19, GNAI1, CDH13 and GABRG2 interact to confer risk of acne in Chinese population
    Hongyan Wang
    Institute of Dermatology and Department of Dermatology at No 1 Hospital, Anhui Medical University, Hefei, Anhui, China
    J Dermatol 42:378-81. 2015
    ..89 × 10(-07)), ADAM19 × GNAI1 × CDH13 (Padjusted = 1.22 × 10(-04)) and ADAM19 × GABRG2 × GNAI2 × CDH13 (Pad justed = 6.33 × 10(-05))...
  73. doi Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation
    Jens Witsch
    Department of Cell Physiology, Max Planck Institute for Medical Research, 69120 Heidelberg, Germany Department of Neurology, Columbia University College of Physicians and Surgeons, NY, USA Electronic address
    Neurobiol Dis 77:62-70. 2015
    ..In summary our findings support the hypothesis of a cortical pathology in this mouse model of human genetic absence epilepsy. Further study is needed to characterize underlying molecular mechanisms. ..
  74. doi Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD)
    Carla V Sesarini
    Instituto de Ciencias Básicas y Medicina Experimental ICBME, Instituto Universitario del Hospital Italiano de Buenos Aires HIBA, Potosi 4240 C1199ACL, CABA, Argentina Electronic address
    Psychiatry Res 229:580-2. 2015
    ..Haplotype analysis: rs1912960 (GABRA4) and rs211037 (GABRG2) overrepresented in cases. Rs1912960 has been associated with ASD and rs211037 with epilepsy...
  75. doi Contribution of GABRG2 Polymorphisms to Risk of Epilepsy and Febrile Seizure: a Multicenter Cohort Study and Meta-analysis
    Batoul Sadat Haerian
    Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Lembah Pantai, 59100, Kuala Lumpur, Malaysia
    Mol Neurobiol 53:5457-67. 2016
    ..Gamma protein encoded by the GABRG2 gene is one of the subunits of the GABA-A receptor, which plays an essential role in the function of this receptor...
  76. doi Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy
    Geqing Xia
    Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, 37232, United States
    Epilepsy Res 123:50-4. 2016
    ..b>GABRG2(Q390X) is a mutation associated with the epileptic encephalopathy Dravet syndrome (DS) and with genetic epilepsy ..
  77. pmc Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population
    Aparna Banerjee Dixit
    Center for Excellence in Epilepsy, A joint National Brain Research Centre All Institute of Medical Sciences Collaboration, National Brain Research Centre, Manesar, Haryana, India
    Ann Indian Acad Neurol 19:236-41. 2016
    This study is focused on GABRG2 gene sequence variations in patients with mesial temporal lobe epilepsy (mTLE)...
  78. doi Application of phage therapy during bivalve depuration improves Escherichia coli decontamination
    Carla Pereira
    Department of Biology and CESAM, University of Aveiro, Campus Universitario de Santiago, 3810 193, Aveiro, Portugal
    Food Microbiol 61:102-112. 2017
    The present study investigated the potential application of the bacteriophage (or phage) phT4A, ECA2 and the phage cocktail phT4A/ECA2 to decrease the concentration of Escherichia coli during the depuration of natural and artificially ..
  79. pmc Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity
    Juexin Wang
    Department of Computer Science and Christopher S Bond Life Sciences Center, University of Missouri, Columbia, MO, 65211, USA
    Sci Rep 6:35294. 2016
    ..in GABAA receptor subunit genes are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several epilepsy syndromes including childhood absence epilepsy, generalized tonic clonic ..
  80. pmc De novo GABRG2 mutations associated with epileptic encephalopathies
    Dingding Shen
    1 The Graduate Program of Neuroscience, Vanderbilt University, Nashville, TN 37232, USA
    Brain 140:49-67. 2017
    ..phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients...
  81. 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...
  82. ncbi [Generalized epilepsy with febrile seizures plus: clinical and genetic analysis of three Serbian families]
    Aleksandar J Ristic
    Institute of Neurology, Clinical Centre of Serbia, Belgrade
    Srp Arh Celok Lek 133:7-13. 2005
    ..Mutation analysis of the SCN1A, SCN1B and GABRG2 genes was performed in all affected and some unaffected members of these three families...
  83. 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
    ..of QYS significantly increased the expressions of Gabra1, Gabra2 and Gabr4 and decreased the expression of Gabrg2 in inferior colliculus...
  84. ncbi Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults
    F E Jansen
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Australia
    Neurology 67:2224-6. 2006
    ..The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.
  85. doi Interactions of midazolam and propofol on α1β2γ2L and α1β2γ2S gamma aminobutyric acid type A receptors expressed in human embryonic kidney cells
    Deok Man Hong
    Seoul National University Hospital, Daehakro 101, Jongno gu, Seoul, Korea
    Anesth Analg 112:1096-102. 2011
    ..We investigated the interaction of midazolam and propofol with α(1)β(2)γ(2)L and α(1)β(2)γ(2)S GABA(A) receptors...
  86. doi GABRG2 gene polymorphisms in Egyptian children with simple febrile seizures
    Sanaa M Abdel Salam
    Department of Pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt
    Indian J Pediatr 79:1514-6. 2012
    Mutations in the gamma-aminobutyric acid type A receptor (GABRG2) gene have been associated with generalized epilepsy, childhood absence epilepsy and febrile seizures...
  87. 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 from crosses of fully sequenced ..
  88. doi Development of biomarkers of exposure to xenobiotics in the honey bee Apis mellifera: application to the systemic insecticide thiamethoxam
    Alexandra Badiou-Bénéteau
    INRA, Laboratoire de Toxicologie Environnementale, UR 406 Abeilles et Environnement, 84914 Avignon Cedex 9, France
    Ecotoxicol Environ Saf 82:22-31. 2012
    This study describes the development of acetylcholinesterase (AChE), carboxylesterases (CaE1, CaE2, CaE3), glutathion-S-transferase (GST), alkaline phosphatase (ALP) and catalase (CAT) as enzyme biomarkers of exposure to xenobiotics such ..
  89. pmc Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy
    Young Ok Kim
    Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
    J Clin Neurol 8:271-5. 2012
    Since the γ-aminobutyric acid type-A receptor subunit γ2 gene (GABRG2) mutation was discovered in an Australian family with childhood absence epilepsy (CAE) and febrile convulsions, a few screening studies for the GABRG2 mutation have ..
  90. 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. ..
  91. pmc Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype
    Jing Qiong Kang
    Departments of Neurology, Vanderbilt University Medical Center, Nashville, TN
    Ann Neurol 74:547-59. 2013
    ..and the impact on channel biogenesis, function, and cellular homeostasis of truncated γ2 subunits produced by GABRG2 nonsense mutations associated with epilepsy of different severities and by a nonsense mutation in the last exon ..
  92. doi GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures
    Shabeesh Balan
    aHuman Molecular Genetics Department, Rajiv Gandhi Center for Biotechnology bR Madhavan Nayar Center for Comprehensive Epilepsy Care, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Kerala, India cDepartment of Medicine, and Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, New York, USA
    Pharmacogenet Genomics 23:605-10. 2013
    ..The large diversity of GABA(A) receptors has been reported in the central nervous system; some of these have been implicated in epilepsy susceptibility and AED resistance, which we aimed to examine...
  93. 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
    ..on 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, ..
  94. pmc Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome
    A S Wilcox
    Department of Pharmacology, University of Colorado Health Sciences Center, Denver 80262
    Proc Natl Acad Sci U S A 89:5857-61. 1992
    ..1 and the gamma 2 gene (GABRG2) to 5q31.1-q33.2...
  95. 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.
  96. ncbi Site-specific mutagenesis of Escherichia coli asparaginase II. None of the three histidine residues is required for catalysis
    A Wehner
    Institut fur Physiologische Chemie, Philipps Universitat, Marburg, Federal Republic of Germany
    Eur J Biochem 208:475-80. 1992
    Site-specific mutagenesis was used to replace the three histidine residues of Escherichia coli asparaginase II (EcA2) with other amino acids...
  97. ncbi States and functions of tyrosine residues in Escherichia coli asparaginase II
    C Derst
    Institut fur Physiologische Chemie, Philipps Universitat, Marburg, Germany
    Eur J Biochem 224:533-40. 1994
    The importance of five tyrosine residues of Escherichia coli asparaginase II (EcA2) for catalysis and protein stability was examined by site-directed mutagenesis, chemical modification of wild-type and variant enzymes, and by ..
  98. pmc A GBF-binding site and a novel AT element define the minimal sequences sufficient to direct prespore-specific expression in Dictyostelium discoideum
    J A Powell-Coffman
    Department of Biology, University of California, San Diego, La Jolla 92093 0634
    Mol Cell Biol 14:5840-9. 1994
    ..The CAEs have differential affinities for a specific developmentally induced nuclear activity (CAE1 > CAE2 >> CAE3)...
  99. 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
    ..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...
  100. ncbi Genetic association of a GABA(A) receptor gamma2 subunit variant with severity of acute physiological dependence on alcohol
    K J Buck
    Department of Behavioral Neuroscience and Portland Alcohol Research Center, Oregon Health Sciences University, and Department of Veterans Affairs Medical Center, R and D40, 3710 SW US Veterans Hospital Road, Portland, Oregon 97201, USA
    Mamm Genome 9:975-8. 1998
    ..The present studies identify a polymorphism between the B6 and D2 strains in the gamma2 subunit gene, Gabrg2, and expand genotypic analysis to their BXD recombinant inbred strains...

Research Grants10

  1. 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. ..
  2. 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. ..
  3. 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. ..
  4. ROBERT LOUDEN MACDONALD; Fiscal Year: 2014
    ..The goals of this proposal are to characterize the altered receptor biogenesis and function produced by GABRG2 epilepsy PTC and splice donor site mutations and to develop strategies to overcome the resultant deficits as ..
  5. Jing Qiong Kang; Fiscal Year: 2016
    ..of wildtype GABAA receptor expression, distribution, mobility and turnover as well as neurobehaviors in the mutant GABRG2 (Q351X) heterozygous KI mice...
  6. PSYCHOPHYSIOLOGY OF IRRITABLE BOWEL SYNDROME
    William E Whitehead; Fiscal Year: 2012
    ..g. MAP2K1) and genes regulating pain sensitivity more directly (e.g., GABRG2) interact to influence vulnerability to IBS-Pn, and we hypothesize that inflammatory genes may require the ..
  7. Molecular Analysis of Epilepsy Predisposition
    John Cowell; Fiscal Year: 2006
    ..were first described encoded voltage-gated sodium channels, SCN1A, SCN2A and SCN1B and a GABA receptor subunit, GABRG2. It is thought that the epilepsies associated with these genes result from enhanced excitability of neuronal ..
  8. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
    ....
  9. Molecular Biology of Calcuim Channel Gamma Subunits
    Daniel Burgess; Fiscal Year: 2006
    ....
  10. Effects of prolonged seizures on GABAA receptor function
    Andre Lagrange; Fiscal Year: 2008
    ..This may help further our understanding of seizure initiation/abortion as well as normal GABAergic synaptic transmission. [unreadable] [unreadable]..