The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system
about
A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor traffickingThe Intracellular Loop of the Glycine Receptor: It's not all about the SizeSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsThe human glycine receptor subunit alpha3. Glra3 gene structure, chromosomal localization, and functional characterization of alternative transcriptsSmall Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle responseAltered inhibitory synaptic transmission in superficial dorsal horn neurones in spastic and oscillator miceMurine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.Glycine receptor mouse mutants: model systems for human hyperekplexiaBehavioral characterization of knockin mice with mutations M287L and Q266I in the glycine receptor α1 subunit.Glycine receptor mutants of the mouse: what are possible routes of inhibitory compensation?A critical role for glycine transporters in hyperexcitability disorders.Structure and functions of inhibitory and excitatory glycine receptors.Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia.Characterization of mice with targeted deletion of glycine receptor alpha 2.Characterization of two mutations, M287L and Q266I, in the α1 glycine receptor subunit that modify sensitivity to alcohols.Intrinsic and synaptic homeostatic plasticity in motoneurons from mice with glycine receptor mutations.New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Distinct phenotypes in zebrafish models of human startle disease.Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains.Single expressed glycine receptor domains reconstitute functional ion channels without subunit-specific desensitization behavior.Glycinergic transmission in the Mammalian retina.Glycinergic inhibition is essential for co-ordinating cranial and spinal respiratory motor outputs in the neonatal rat.Diversity of glycine receptors in the mouse retina: localization of the alpha3 subunit.Conserved high affinity ligand binding and membrane association in the native and refolded extracellular domain of the human glycine receptor alpha1-subunit.A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists.Glycinergic input of widefield, displaced amacrine cells of the mouse retina.Dynamic changes in glottal resistance during exposure to severe hypoxia in neonatal rats in situ.Glycine receptors of A-type ganglion cells of the mouse retina.The role of charged residues in independent glycine receptor folding domains for intermolecular interactions and ion channel function.Genetic ablation of VIAAT in glycinergic neurons causes a severe respiratory phenotype and perinatal death.Impaired Glycine Receptor Trafficking in Neurological Diseases
P2860
Q24295137-F2939AF0-0FA1-4B2B-ACE1-870084528BA6Q26743781-A0B65B1E-3512-4C03-8039-1423E57E015CQ28077671-EFC4CCAA-C697-42CA-9DF1-91D98FAEFE8DQ28119046-3AC74D2A-2852-4A7B-9772-A5D64E5320DCQ28205976-1758CCAD-9482-4EC1-8F82-80651E1F4329Q28511263-DFBC78AB-DB39-449F-81A8-17FAA12AC617Q30372932-F37AE21E-94BD-4C18-8D6D-11939A6A92DBQ30426940-BD8B96D3-67B0-425E-8DF9-30AEBBC6C3B9Q30458706-D30ABC05-A807-4D75-B41C-4BD9635D764EQ30461478-B6841287-6BA3-48C8-9892-0458D7231DDDQ30492982-2BAB25CF-4B49-4EA8-A4D4-A5BEEDF48A68Q33691545-B199D11E-1D5D-4A18-8D6E-46297C7C49B5Q34086321-2DF4FBB6-07FA-4AE8-A175-E7FDE3593137Q34869853-C6825AD8-28CD-4CC9-9E70-620C8417B377Q35071038-DE715D77-595B-4B3E-B06C-2FD3E4997A7DQ35688558-07E627EF-3FF7-448A-A706-F7355F9FCCAEQ36821693-AE20E11E-9072-4CD5-AB2A-B84DBC8BF552Q37333728-1FC57F2F-873A-4B69-8A5F-6BD99BD07017Q37679180-C46DB554-2F72-4ADF-B3A0-AFF236B9F2D0Q38671441-D63DF153-27BF-4215-BBE0-BB45014A142EQ40800719-5B0D5DBD-1C1D-442C-B5F7-E318E6A69639Q41308485-0C101300-DE5D-4D07-9BD5-E888D543E186Q42117968-2797E6BF-41D9-4DEC-927C-61F3F8D0B9B0Q42638319-C5FF039D-1C9A-4F88-9BFF-118461E68DE1Q44121210-C64763A1-54BB-4F16-B3C5-4D26BFC5B3C8Q44585719-794967BB-0B44-4D98-AE26-D7C627B9D96CQ44639270-72A69E25-5066-4867-B54A-F76F82AF8C01Q44832235-5C5E6D1A-677F-4E47-B559-2CF66CC0F034Q45968294-1C247239-C453-48C6-960B-F0A9B4599CFAQ47754316-9CF8B7CF-B5F2-407B-BE55-F389C058DA04Q48146000-2466E3B9-DC16-40FC-8F74-F797E5D8C330Q48250089-EE68DBBB-80E9-4CC1-840C-4A9BBC22A9AEQ48658091-89BA3677-760D-43A6-B592-821BBE6D350DQ58728657-997D523A-A205-43B7-BCD4-9B84C12D49F2
P2860
The frameshift mutation oscillator (Glra1(spd-ot)) produces a complete loss of glycine receptor alpha1-polypeptide in mouse central nervous system
description
1997 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1997
@ast
im Mai 1997 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1997/05/01)
@sk
vědecký článek publikovaný v roce 1997
@cs
wetenschappelijk artikel (gepubliceerd op 1997/05/01)
@nl
наукова стаття, опублікована в травні 1997
@uk
مقالة علمية (نشرت في مايو 1997)
@ar
name
The frameshift mutation oscill ...... n mouse central nervous system
@ast
The frameshift mutation oscill ...... n mouse central nervous system
@en
The frameshift mutation oscill ...... n mouse central nervous system
@nl
type
label
The frameshift mutation oscill ...... n mouse central nervous system
@ast
The frameshift mutation oscill ...... n mouse central nervous system
@en
The frameshift mutation oscill ...... n mouse central nervous system
@nl
prefLabel
The frameshift mutation oscill ...... n mouse central nervous system
@ast
The frameshift mutation oscill ...... n mouse central nervous system
@en
The frameshift mutation oscill ...... n mouse central nervous system
@nl
P2093
P3181
P1433
P1476
The frameshift mutation oscill ...... n mouse central nervous system
@en
P2093
P304
P3181
P356
10.1016/S0306-4522(96)00567-2
P407
P577
1997-05-01T00:00:00Z