Property Summary

NCBI Gene PubMed Count 123
PubMed Score 136.86
PubTator Score 139.16

Knowledge Summary

Patent (1,805)


Protein-protein Interaction (1)

Gene RIF (87)

26845851 GLRA1 and GLRB mutations are responsible for abnormal startled reactions in humans. (Review)
26079326 the TM3-4 loop length is critical for glycine receptor alpha1 desensitization and a direct neighborhood of both basic stretches changes receptor properties from non-desensitizing to desensitizing.
25730860 The first X-ray structure of the TMD of the alpha1GlyR solved here using GLIC as a scaffold paves the way for mechanistic investigation and design of allosteric modulators of a human receptor.
25572390 Data indicate that alpha1Q-26'E-containing glycine receptors have longer active periods and lower conductances.
25568133 In GlyRA1 mutants, a portion of them can be transported to the plasma membrane but don't form funtional channels; a possible cause for hyperekplexia.
25356525 Mutations in the GLRA1 were identified in 16 Japanese patients with hyperekplexia.
25079583 in two sisters with hyperekplexia a compound heterozygosis of 2 novel mutations of GLRA1 gene was found - heterozygous for a C-to-G base transition resulting in a phenylalanine to leucine amino acid change in position 235 and for a T-to-C base transition resulting in a cysteine to arginine amino acid change in position 237
24970905 Self-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.
24108130 p.E375X truncated subunits are incorporated into functional hGlyRs together with unmutated alpha1 or alpha1 plus beta subunits.
24097980 Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation.
23994010 Conformation and function of the human GLRA1 chloride channel.
23834509 Comparison of glycine-mediated conformational changes in the extracellular M2-M3 domain finds significantly different structures between GlyR alpha3 and GlyR alpha1 isoforms.
23090334 Glycine receptor alpha1 subunit specific-autoantibody study aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.
23035114 Ethanol mediated potentiation of GlyR is in part by Gbetagamma activation.
22995908 TM3-4 loop subdomains are important for functional reconstitution of glycine receptors by independent domains
22816018 Normal-mode analysis shows that a glycine alpha-1 receptor suspended in a fully hydrated lipid bilayer continues to demonstrate an iris-like channel gating motion as a low-frequency, high-amplitude natural harmonic vibration consistent with channel gating.
22279218 By slowing and impairing channel gating in GLRA1, the K276E mutation facilitates the detection of closed reaction intermediates in the activation pathway of glycine channels.
22264702 a novel p.W170S mutation in the extracellular ligand binding domain of glycine receptor alpha1 subunit was detected in patients with hyperekplexia and mild mental retardation.
22132222 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.
22037201 Mutations in the GlyR alpha-1 subunit, M287L and Q266I, resulted in a small but general impairment of glycine action, that is most evident in the glycine-induced maximal currents.
21955162 A 12-amino-acid segment incorporating the 271 residue on the glycine receptor alpha1271Q/L subunit was replaced by the homologous segment from the glycine receptor beta subunit (alpha1(Ch) 271Q/L). The function of the alpha1(Ch) 271Q/L glycine receptor was examined.
21917927 Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor
21463577 ethanol appears to stabilize the GlyR model built on a presumably open form of the ligand-gated channel.
21414903 Selective alterations in GlyRalpha1 subunit function contribute to inhibitory insufficiency in motoneurons early in the disease process of amyotrophic lateral sclerosis.
20959630 Depolarization of GlyCl-expressing cells induces these drastic changes in melanocyte behavior via a serotonin-transporter-dependent increase of extracellular serotonin
20959090 the coordination environment of Cu(2)(+) in the human alpha1-glycine receptor
20631190 sequencing of GLRA1 in 88 new unrelated hyperekplexia patients revealed 19 sequence variants in 30 index cases, of which 21 were inherited in recessive or compound heterozygote modes; investigated functional effects of 11 novel and 2 recurrent mutations
20198385 Presence of an impermeant Ca(2+) ion in the Glra1 channel pore region just external to the selectivity filter tends to electrostatically retard outward movement of Na(+) ions and to enhance movement of Cl(-) ions down their energy gradients.
19959465 Results indicate that the multifunctional basic motif of the TM3-4 loop is capable of mediating a karyopherin-dependent intracellular sorting of full-length GlyRs.
19874574 Observational study of gene-disease association. (HuGE Navigator)
19732286 findings indicate recessive alpha1 mutants are recognized by endoplasmatic reticulum control system & degraded by the proteasome pathway & impaired receptor biogenesis & turnover may underlie deficit of glycinergic inhibition in recessive hyperekplexia
19705103 Report interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19626554 Using chimeras of alpha1 and alpha3 subunit containing glycine receptors, we identified the structurally divergent M4 transmembrane segment and C-terminal tail as a specific determinant of the efficacy difference.
19286654 Mapping domains crucial for ligand discrimination in the ligand-binding domain of glycine receptors and other Cyseine loop receptors.
19086053 Observational study of gene-disease association. (HuGE Navigator)
19073849 This study identified a 3-generation family with progressively severe phenotypes of hyperekplexia. All affected family members were found to be heterozygous for a novel arginine271proline mutation in GLRA1
19049967 portals are part of the extended permeation pathway but that the M2-demarcated channel pore is the dominant determinant of permeation properties in glycine receptors
18806798 provide a new view for the activation of a Cys-loop receptor where, following agonist binding, the hydrophobic core and interfacial loops reorganize in a concerted fashion to induce downstream gating
18710260 Overexpression and functional characterization of the extracellular domain of the human alpha1 glycine receptor
18690053 single point mutations within the agonist-binding site of the alpha(1) subunit convert the inhibitory GlyR from a glycine-gated into a selectively Zn2+-activated chloride channel
18658152 Roles for loop 2 residues of alpha1 glycine receptors in agonist activation
18292428 Using wild type/mutated receptor subunits to identify compounds with anesthetic effect.
18043720 Ser267Asn substitution in GLRA1 affects agonist responses and ethanol modulation of the mutant receptor and implies that a disease-related receptor allele carries the potential to alter drug responses in affected patients.
18036150 Molecular modeling was used to thread the glycine receptor sequence onto a nicotinic acetylcholine receptor template; I229 and A288 are near-neighbors that can cross-link and providing evidence that these residues contribute to a single binding cavity
17887775 PKCPprotein kinase C) activation stimulates glycine receptor endocytosis, and constitutive endocytosis and PKC-stimulated endocytosis are dynamin-dependent.
17655979 The hyperekplexia mutation increased the positive cooperativity of 0.3 mM propofol and glycine binding by about six times
17655760 Observational study of gene-disease association. (HuGE Navigator)
17534957 This study reports the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
17469203 Model channels built on non-alpha chains have a constriction either near the intracellular mouth or more centrally located in the pore domain.
17434460 data suggest that the TM2-TM3 extracellular loop plays a role in the transduction of signals generated by allosteric modulators in addition to gating signals that follow glycine binding
17433503 Our observations suggest a novel mechanism whereby subunit specific changes in the NMDA receptor complex may be linked to chronic anxiety in AD via effects on GlyRS function.
17181559 N102 is required for tropisetron inhibition of the GLRA1 subunit but not potentiation and inhibitory tropisetron binds in different orientations at different subunit interfaces.
17040914 analysis of the sites for G protein betagamma subunit modulation on GlyRs
16941485 Microdeletion breakpoint in a GLRA1 null allele of Turkish hyperekplexia patients was identified, suggesting a founder mutation in an ethnic population originating from Turkey.
16832093 The study describe six patients from two consanguineous families with a homozygous deletion of the first seven GLRA1 exons and provide evidence of a founder effect in Kurds from Turkey
16361257 glycine receptor function is enhanced by drug binding to a single subunit in the receptor pentamer
16144831 The molecular basis for the differential sensitivity of GlyR alpha(1) and GlyR alpha(2) to Zn(2+) potentiation is reported.
16109711 the M2-M3 loop of the glycine receptor alpha 1 responds differently to the occupation of different binding sites
16078201 This study suggests that Hys-100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous.
15951389 models of the open pore structure and current-voltage characteristics of the human alpha1 GlyR second transmembrane segment
15771552 Three novel mutations were identified in the GLRA1 gene associated with hereditary hyperekplexia.
15489161 The architecture of the inhibitory glycine receptor alpha 1 subunit transmembrane 1-2 loop is a critical determinant of ion channel conductance and receptor desensitization.
15365143 2 novel mutations, W96C and R344X, which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in a Taiwanese family with autosomal recessive hyperekplexia.
15287733 Alanine-scanning mutagenesis of the residues between C138 and C152 of the Cys loop of the glycine receptor alpha 1 subunit is used to identify residues critical for receptor activation and allosteric modulation.
15147510 Effects of 12 times normal atmospheric pressure of helium-oxygen gas (pressure) on ethanol-induced potentiation of GlyR function in Xenopus oocytes expressing human alpha1, alpha2 or the mutant alpha1(A52S) GlyRs were measured by voltage clamp technics
14981077 analysis of taurine- and glycine-induced conformational changes in the M2-M3 domain of the glycine receptor
14698963 Stoichiometry of recombinant heteromeric glycine receptors is revealed by a pore-lining region point mutation
14593111 distinct functional characteristics of the full-length GlyR are retained in the isolated N-terminal domain.
14563849 proton modulation of glycine receptor function is determined by extracellular domain in both the alpha1 and beta subunits
14525990 loops 2 and 7 in the extracellular domain play an important role in the mechanism of activation of the glycine receptor although not by a direct electrostatic mechanism
12954867 We produced knock-in mice bearing the human GlyR alpha1 S267Q dominant-negative point mutation in GlyR, disrupting normal function and producing a more dramatic phenotype than the corresponding recessive null mutation
12826676 a highly conserved aspartic acid residue in the signature disulfide loop of the alpha 1 subunit is a determinant of gating in the glycine receptor
12766618 findings indicate that pressure directly and selectively antagonizes ethanol potentiation of alpha(1)glycine receptor function
12746425 novel GLRA1 mutation, occurring de novo in a patient with hyperekplexia, which results in the substitution of the arginine at position 218 with a glutamine (R218Q)
12740384 binding of zinc at the interface between adjacent glycine receptor alpha1 subunits could restrict intersubunit movements, providing a feasible mechanism for the inhibition of channel activation by zinc
12679369 We propose a kinetic scheme with three independent open states, where the opening rates are dependent upon the activating agonist, while the closing rates are an intrinsic characteristic of the receptor.
12661758 Treatment of the glycine receptor alpha 1 channel with ginsenoside Rf enhances glycine-induced inward peak current (IGly) in a dose dependent and reversible manner but ginsenoside Rf itself did not elicit membrane currents.
12356883 Effects of phosphorylation on glycine receptor kinetics. with phosphorylators or with phosphatases. Phosphorylation accelerated desensitisation, but slowed deactivation and recovery from desensitisation.
12239220 Results provide evidence for a conserved pore opening mechanism in anion-selective members of the ligand-gated ion channel family, including glycine receptors (GlyR) and gamma-aminobutyric acid, type A receptors (GABA(A)R).
12237328 variations in glycine receptor alpha1(GlyR) density during cluster formation result from a change in GlyR efficiency due to modifications in their desensitization properties.
12080117 NMR of GLRA1 reveals a pore architecture in which simultaneous tilting movements of entire TM2 helices by a mere 10 degrees may be sufficient to account for the channel gating
11994009 Probing the topology of the glycine receptor alpha1 by chemical modification coupled to mass spectrometry.
11981021 Ion charge selectivity mutation of the alpha 1 homomeric glycine receptor inverts the electrostatic profile of the channel pore by introducing a negatively charged ring at the putative selectivity filter.
11981020 A single substitution at the intracellular mouth of the alpha 1 glycine receptor M2 domain converts the channel charge selectivity to cations over anions, providing evidence of critical electrostatic interactions between permeating ions and pore residues.
11973623 A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation
11781706 Sequencing analysis of all exons of the alpha1 subunit of the glycine receptor (GLRA1) gene revealed a G1158A base transition in affected, heterozygous patients.
11580237 quaternary structure of receptor fragment

AA Sequence

KKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ                                     421 - 457

Text Mined References (128)

PMID Year Title
26079326 2015 Length of the TM3-4 loop of the glycine receptor modulates receptor desensitization.
25973519 2015 Ethanol Modulation is Quantitatively Determined by the Transmembrane Domain of Human ?1 Glycine Receptors.
25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an ?1 glycine receptor transmembrane structure.
25572390 2015 Correlating structural and energetic changes in glycine receptor activation.
25568133 2015 Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.
25445488 2015 Functional reconstitution of glycinergic synapses incorporating defined glycine receptor subunit combinations.
25356525 2015 Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
25079583 2014 Novel mutations in the glycine receptor alpha subunit gene in two sisters with hyperekplexia.
24970905 2015 Ethnicity can predict GLRA1 genotypes in hyperekplexia.
24108130 2013 New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.
24097980 2013 Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation.
23994010 2013 Open-channel structures of the human glycine receptor ?1 full-length transmembrane domain.
23834509 2013 Phosphorylation of ?3 glycine receptors induces a conformational change in the glycine-binding site.
23090334 2013 Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.
23035114 2012 Inhibition of the ethanol-induced potentiation of ?1 glycine receptor by a small peptide that interferes with G?? binding.
22995908 2012 The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains.
22973015 2012 Stoichiometry of the human glycine receptor revealed by direct subunit counting.
22816018 2010 Normal mode gating motions of a ligand-gated ion channel persist in a fully hydrated lipid bilayer model.
22715885 2012 Stoichiometry and subunit arrangement of ?1? glycine receptors as determined by atomic force microscopy.
22279218 2012 The ?1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.
22264702 2012 Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.
22132222 2011 ? Subunit M2-M3 loop conformational changes are uncoupled from ?1 ? glycine receptor channel gating: implications for human hereditary hyperekplexia.
22037201 2012 Characterization of two mutations, M287L and Q266I, in the ?1 glycine receptor subunit that modify sensitivity to alcohols.
21955162 2012 Function of hyperekplexia-causing ?1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway.
21917927 2011 Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptor.
21463577 2011 Microsecond simulations indicate that ethanol binds between subunits and could stabilize an open-state model of a glycine receptor.
21414903 2011 Glycine receptor channels in spinal motoneurons are abnormal in a transgenic mouse model of amyotrophic lateral sclerosis.
20959630 2011 Transmembrane potential of GlyCl-expressing instructor cells induces a neoplastic-like conversion of melanocytes via a serotonergic pathway.
20959090 2010 Pulsed electron spin resonance resolves the coordination site of Cu²(+) ions in ?1-glycine receptor.
20631190 2010 Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
20198385 2010 External divalent cations increase anion-cation permeability ratio in glycine receptor channels.
19959465 2010 Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting.
19874574 2009 Genetical genomic determinants of alcohol consumption in rats and humans.
19861413 2009 Mapping of disulfide bonds within the amino-terminal extracellular domain of the inhibitory glycine receptor.
19732286 2009 Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability.
19705103 2009 Interaction of androsterone and progesterone with inhibitory ligand-gated ion channels: a patch clamp study.
19626554 2009 The M4 transmembrane segment contributes to agonist efficacy differences between alpha1 and alpha3 glycine receptors.
19286654 2009 Ligand-specific conformational changes in the alpha1 glycine receptor ligand-binding domain.
19086053 2009 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.
19073849 2008 A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.
19049967 2009 Characterization of the effects of charged residues in the intracellular loop on ion permeation in alpha1 glycine receptor channels.
18852446 2008 Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody.
18806798 2008 Mapping a molecular link between allosteric inhibition and activation of the glycine receptor.
18710260 2008 Overexpression and functional characterization of the extracellular domain of the human alpha1 glycine receptor.
18690053 Mutations within the agonist-binding site convert the homomeric alpha1 glycine receptor into a Zn2+-activated chloride channel.
18658152 2008 Roles for loop 2 residues of alpha1 glycine receptors in agonist activation.
18292428 2008 The anesthetic-like effects of diverse compounds on wild-type and mutant gamma-aminobutyric acid type A and glycine receptors.
18043720 2008 The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.
18036150 2008 Cross-linking of sites involved with alcohol action between transmembrane segments 1 and 3 of the glycine receptor following activation.
17887775 2007 Mechanisms of homomeric alpha1 glycine receptor endocytosis.
17655979 2008 Hyperekplexia mutation R271L of alpha1 glycine receptors potentiates allosteric interactions of nortropeines, propofol and glycine with [3H]strychnine binding.
17655760 2007 Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?
17536053 2007 Hyperekplexia caused by dominant-negative suppression of glyra1 function.
17534957 2007 A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
17469203 2007 Homology modeling and molecular dynamics simulations of the alpha1 glycine receptor reveals different states of the channel.
17434460 2007 Effects of a mutation in the TM2-TM3 linker region of the glycine receptor alpha1 subunit on gating and allosteric modulation.
17433503 2008 Alterations in NMDA receptor subunit densities and ligand binding to glycine recognition sites are associated with chronic anxiety in Alzheimer's disease.
17181559 2007 Tropisetron modulation of the glycine receptor: femtomolar potentiation and a molecular determinant of inhibition.
17040914 2006 Molecular determinants for G protein betagamma modulation of ionotropic glycine receptors.
16941485 2006 Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients.
16832093 2006 Hyperekplexia in Kurdish families: a possible GLRA1 founder mutation.
16361257 2006 Occupancy of a single anesthetic binding pocket is sufficient to enhance glycine receptor function.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16144831 2005 Molecular basis for zinc potentiation at strychnine-sensitive glycine receptors.
16109711 2005 A picrotoxin-specific conformational change in the glycine receptor M2-M3 loop.
16078201 2005 Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.
15952785 2005 Structure and dynamics of the second and third transmembrane domains of human glycine receptor.
15951389 2005 Theoretical studies of the M2 transmembrane segment of the glycine receptor: models of the open pore structure and current-voltage characteristics.
15771552 2004 Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
15748848 2005 The beta subunit determines the ligand binding properties of synaptic glycine receptors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15489161 2004 Molecular dynamics simulation links conformation of a pore-flanking region to hyperekplexia-related dysfunction of the inhibitory glycine receptor.
15365143 2004 Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.
15287733 2004 Alanine-scanning mutagenesis in the signature disulfide loop of the glycine receptor alpha 1 subunit: critical residues for activation and modulation.
15147510 2004 Multiple sites of ethanol action in alpha1 and alpha2 glycine receptors suggested by sensitivity to pressure antagonism.
14981077 2004 Comparison of taurine- and glycine-induced conformational changes in the M2-M3 domain of the glycine receptor.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14698963 2003 Stoichiometry of recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation.
14593111 2004 Conserved high affinity ligand binding and membrane association in the native and refolded extracellular domain of the human glycine receptor alpha1-subunit.
14563849 2004 Molecular determinants of proton modulation of glycine receptors.
14551753 2003 Kinetic analysis of recombinant mammalian alpha(1) and alpha(1)beta glycine receptor channels.
14525990 2003 Role of charged residues in coupling ligand binding and channel activation in the extracellular domain of the glycine receptor.
12954867 2003 Glycine receptor knock-in mice and hyperekplexia-like phenotypes: comparisons with the null mutant.
12826676 2003 A highly conserved aspartic acid residue in the signature disulfide loop of the alpha 1 subunit is a determinant of gating in the glycine receptor.
12766618 2003 Ethanol potentiation of glycine receptors expressed in Xenopus oocytes antagonized by increased atmospheric pressure.
12746425 2003 A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia.
12740384 2003 Insights into the structural basis for zinc inhibition of the glycine receptor.
12679369 2003 Kinetic determinants of agonist action at the recombinant human glycine receptor.
12667090 2003 NMR structure and backbone dynamics of the extended second transmembrane domain of the human neuronal glycine receptor alpha1 subunit.
12661758 2003 Effects of ginsenosides on glycine receptor alpha1 channels expressed in Xenopus oocytes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12356883 2002 Binding site stoichiometry and the effects of phosphorylation on human alpha1 homomeric glycine receptors.
12239220 2002 Comparative surface accessibility of a pore-lining threonine residue (T6') in the glycine and GABA(A) receptors.
12237328 2002 Desensitization of homomeric alpha1 glycine receptor increases with receptor density.
12080117 2002 NMR structures of the second transmembrane domain of the human glycine receptor alpha(1) subunit: model of pore architecture and channel gating.
11981021 2002 Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channels.
11981020 2002 Cation-selective mutations in the M2 domain of the inhibitory glycine receptor channel reveal determinants of ion-charge selectivity.
11929858 2002 Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
11751269 2002 A role for the human sperm glycine receptor/Cl(-) channel in the acrosome reaction initiated by recombinant ZP3.
11702206 2001 Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.
11580237 2001 A recombinant glycine receptor fragment forms homo-oligomers distinct from its GABA(A) counterpart.
10639099 2000 Kinetic and mutational analysis of Zn2+ modulation of recombinant human inhibitory glycine receptors.
10514101 1999 Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
9920650 1999 Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
9350397 1997 Hyperekplexia-like syndromes without mutations in the GLRA1 gene.
9067762 1997 Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.
9009272 1997 Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel.
8973915 1996 Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR.
8733061 1996 Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
8717357 1996 The human glycine receptor beta subunit: primary structure, functional characterisation and chromosomal localisation of the human and murine genes.
8651283 1996 A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
8571969 1996 A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
8298642 1993 Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
8137830 1994 Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
7981700 1994 An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
7925268 1994 Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.
7920629 1994 A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
7881416 1994 Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
7806244 1994 Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH.
7611730 1995 Mutational analysis of familial and sporadic hyperekplexia.
7518444 1994 Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor.
7506679 1993 Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors.
2155780 1990 Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.
1845981 1991 Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C.
1355335 1992 Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
1334371 1992 Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.