| Gating mechanism of the human alpha1beta GlyR by glycine. | Gating mechanism of the human α1β GlyR by glycine.
Liu X, Wang W., | 10/10/2024 |
| Glycine Receptor beta-Targeting Autoantibodies Contribute to the Pathology of Autoimmune Diseases. | Glycine Receptor β-Targeting Autoantibodies Contribute to the Pathology of Autoimmune Diseases.
Wiessler AL, Talucci I, Piro I, Seefried S, Hörlin V, Baykan BB, Tüzün E, Schaefer N, Maric HM, Sommer C, Villmann C., Free PMC Article | 02/6/2024 |
| Clinical, genetic, and functional characterization of the glycine receptor beta-subunit A455P variant in a family affected by hyperekplexia syndrome. | Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome.
Aboheimed GI, AlRasheed MM, Almudimeegh S, Peña-Guerra KA, Cardona-Londoño KJ, Salih MA, Seidahmed MZ, Al-Mohanna F, Colak D, Harvey RJ, Harvey K, Arold ST, Kaya N, Ruiz AJ., Free PMC Article | 09/3/2022 |
| single nucleotide polymorphism of glrb interacts in a complex manner with Panic Disorder /AgoraphobiaG on a functional systems level and might be involved in the development of PD/AG but not in their treatment. | Association of rs7688285 allelic variation coding for GLRB with fear reactivity and exposure-based therapy in patients with panic disorder and agoraphobia.
Ridderbusch IC, Richter J, Yang Y, Hoefler M, Weber H, Reif A, Hamm A, Pané-Farré CA, Gerlach AL, Stroehle A, Pfleiderer B, Arolt V, Wittchen HU, Gloster A, Lang T, Helbig-Lang S, Fehm L, Pauli P, Kircher T, Lueken U, Straube B. | 07/18/2020 |
| The association between the missense SNP rs2235371 in gene IRF6 and NSCL/P suggests that this SNP may play an important role as a risk factor for NSCL/P in the Han Chinese populations. | Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population.
Wu D, Wang M, Wang X, Zhang YB, Song T, Yin N, Zhao Z. | 08/10/2019 |
| Using quantitative photoactivated localisation microscopy the authors found that alpha-1 and alpha-3 containing glycine receptors display the same alpha3:beta2 stoichiometry and gephyrin binding. | Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers.
Patrizio A, Renner M, Pizzarelli R, Triller A, Specht CG., Free PMC Article | 05/25/2019 |
| GLRB variants are associated with etiopathogenesis of fear and anxiety disorders. | Modulation of defensive reactivity by GLRB allelic variation: converging evidence from an intermediate phenotype approach.
Lueken U, Kuhn M, Yang Y, Straube B, Kircher T, Wittchen HU, Pfleiderer B, Arolt V, Wittmann A, Ströhle A, Weber H, Reif A, Domschke K, Deckert J, Lonsdorf TB., Free PMC Article | 06/2/2018 |
| A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P = 3.3 x 10 - 8; rs191260602, P = 3.9 x 10- 8).GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture. | GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.
Deckert J, Weber H, Villmann C, Lonsdorf TB, Richter J, Andreatta M, Arias-Vasquez A, Hommers L, Kent L, Schartner C, Cichon S, Wolf C, Schaefer N, von Collenberg CR, Wachter B, Blum R, Schümann D, Scharfenort R, Schumacher J, Forstner AJ, Baumann C, Schiele MA, Notzon S, Zwanzger P, Janzing JGE, Galesloot T, Kiemeney LA, Gajewska A, Glotzbach-Schoon E, Mühlberger A, Alpers G, Fydrich T, Fehm L, Gerlach AL, Kircher T, Lang T, Ströhle A, Arolt V, Wittchen HU, Kalisch R, Büchel C, Hamm A, Nöthen MM, Romanos M, Domschke K, Pauli P, Reif A. | 01/20/2018 |
| Whole-exome sequencing in ASD patients from each family identified a second rare inherited genetic variant, affecting GLRB expressed in inhibitory or in excitatory synapses. | GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.
Bonnet-Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thépault RA, Andres CR, Lemonnier É, Barthélémy C, Raynaud M, Toutain A, Gomot M, Laumonnier F. | 11/19/2016 |
| GLRA1 and GLRB mutations are responsible for abnormal startled reactions in humans. (Review) | [GLYCINE RECEPTOR: MOLECULAR ORGANIZATION AND PATHOLOGY].
Maleeva GV, Bregestovski PD. | 03/5/2016 |
| The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin. | Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
Maric HM, Kasaragod VB, Hausrat TJ, Kneussel M, Tretter V, Strømgaard K, Schindelin H. | 11/21/2015 |
| We report novel GLRB mutations in hyperekplexia | A 14-year-old girl with hyperekplexia having GLRB mutations.
Mine J, Taketani T, Otsubo S, Kishi K, Yamaguchi S. | 04/12/2014 |
| p.E375X truncated subunits are incorporated into functional hGlyRs together with unmutated alpha1 or alpha1 plus beta subunits. | New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
Bode A, Wood SE, Mullins JGL, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJG, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW., Free PMC Article | 02/8/2014 |
| Systematic DNA sequencing of GLRB in individuals with hyperekplexia revealed new missense mutations in GLRB, resulting in M177R, L285R and W310C substitutions. | Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ., Free PMC Article | 08/10/2013 |
| This study describes the definitive assignment of GLRB as the third major gene for hyperekplexia and impacts on the genetic stratification and biological causation of this neonatal/paediatric disorder. | GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. | 07/27/2013 |
| investigated neural progenitor cells in respect to their glycine receptor function and subunit expression using electrophysiology, calcium imaging, immunocytochemistry, and quantitative real-time PCR | Differentiated human midbrain-derived neural progenitor cells express excitatory strychnine-sensitive glycine receptors containing α2β subunits.
Wegner F, Kraft R, Busse K, Härtig W, Ahrens J, Leffler A, Dengler R, Schwarz J., Free PMC Article | 10/20/2012 |
| Distinct properties of glycine receptor beta+/alpha- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein. | Distinct properties of glycine receptor β+/α- interface: unambiguously characterizing heteromeric interface reconstituted in homomeric protein.
Shan Q, Han L, Lynch JW., Free PMC Article | 08/25/2012 |
| This study presents a large family with Hereditary hyperekplexia (HH) as a result of homozygous mutation in GLRB. | Novel mutation in GLRB in a large family with hereditary hyperekplexia.
Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. | 08/11/2012 |
| Hereditary hyperekplexia-causing mutations that modify alpha1 beta GlyR channel function are almost exclusively located in the alpha1 to the exclusion of the beta subunit. | β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.
Shan Q, Han L, Lynch JW., Free PMC Article | 04/7/2012 |
| The authors have identified a protein kinase C (PKC) phosphorylation site within the cytoplasmic domain of the beta-subunit of the GlyR (residue S403) that causes a reduction of the binding affinity between the receptor and gephyrin. | Regulation of glycine receptor diffusion properties and gephyrin interactions by protein kinase C.
Specht CG, Grünewald N, Pascual O, Rostgaard N, Schwarz G, Triller A., Free PMC Article | 11/5/2011 |
| Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | Human variation in alcohol response is influenced by variation in neuronal signaling genes.
Joslyn G, Ravindranathan A, Brush G, Schuckit M, White RL. | 04/7/2010 |
| Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study. | Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
Ziegler E, Bodusch M, Song Y, Jahn K, Wolfes H, Steinlechner S, Dengler R, Bufler J, Krampfl K. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesGenetical genomic determinants of alcohol consumption in rats and humans.
Tabakoff B, Saba L, Printz M, Flodman P, Hodgkinson C, Goldman D, Koob G, Richardson HN, Kechris K, Bell RL, Hübner N, Heinig M, Pravenec M, Mangion J, Legault L, Dongier M, Conigrave KM, Whitfield JB, Saunders J, Grant B, Hoffman PL, WHO/ISBRA Study on State and Trait Markers of Alcoholism. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group. Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko D, Sander T, Becker CM. | 03/13/2008 |
| proton modulation of glycine receptor function is determined by extracellular domain in both the alpha1 and beta subunits | Molecular determinants of proton modulation of glycine receptors.
Chen Z, Dillon GH, Huang R. | 01/21/2010 |
| Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation | Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation.
Burzomato V, Groot-Kormelink PJ, Sivilotti LG, Beato M. | 01/21/2010 |