Results 11 to 20 of about 2,568 (202)

SPEECH ACT FUNCTIONS OF MPOK ATIEK’S HYPEREKPLEXIA VERBAL REACTION

Jurnal KATA: Penelitian tentang Ilmu Bahasa dan Sastra, 2020
This qualitative descriptive research aims to describe the functions of the verbal reaction or speech utterances that was spoken by MA (Mpok Atiek). The verbal reactions or speech utterances are analyzed through the theory of  Searle (1996) which is ...
Anisa Nurjanah
doaj   +1 more source

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia. [PDF]

PLoS ONE, 2011
Hereditary hyperekplexia, or startle disease, is a neuromotor disorder caused mainly by mutations that either prevent the surface expression of, or modify the function of, the human heteromeric α1 β glycine receptor (GlyR) chloride channel.
Qiang Shan, Lu Han, Joseph W Lynch
doaj   +1 more source

The Intracellular Loop of the Glycine Receptor: It’s not all about the Size [PDF]

, 2016
The family of Cys-loop receptors (CLRs) shares a high degree of homology and sequence identity. The overall structural elements are highly conserved with a large extracellular domain (ECD) harboring an α-helix and 10 β-sheets.
Carmen Villmann, Georg Langlhofer
core   +4 more sources

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease

Frontiers in Molecular Neuroscience, 2021
Startle disease is a rare disorder associated with mutations in GLRA1 and GLRB, encoding glycine receptor (GlyR) α1 and β subunits, which enable fast synaptic inhibitory transmission in the spinal cord and brainstem.
Inken Piro, Anna-Lena Eckes, Vikram Babu Kasaragod, Claudia Sommer, Robert J. Harvey, Robert J. Harvey, Natascha Schaefer, Carmen Villmann   +7 more
doaj   +1 more source

Microarray gene expression profiling of neural tissues in bovine spastic paresis [PDF]

, 2013
: Background: Bovine Spastic Paresis (BSP) is a neuromuscular disorder which affects both male and female cattle. BSP is characterized by spastic contraction and overextension of the gastrocnemious muscle of one or both limbs and is associated with a ...
Bicorgna, S., Bongiorni, S., Bueno, S., Chillemi, Giovanni, Gentile, A., Gruber Ce, Gruber Cem, Pariset, L., Prosperini, G., Valentini, Alessio   +9 more
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Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese, Alongi, Altenmüller, Argyelan, Baird, Baizabal-Carvallo, Berardelli, Black, Bragg, Brakebusch, Breakefield, Brüggemann, Burkhard, Byrnes, Chang, Chang, Charlier, Clemmons, De Lahunta, De Ley, De Vlamynck, Defazio, Deuschl, Deuschl, Di Riso, Draper, Du, Elia, Erro, Evinger, Fahn, Forman, Fremont, Garosi, Garosi, Geiger, Geyer, Gilio, Gill, Gill, Gill, Gittis, Goodchild, Grünberg, Hallett, Hamann, Harcourt-Brown, Harvey, Herrtage, Ikoma, Jankovic, Jankovic, Jankovic, Jinnah, Jinnah, Jinnah, Kaji, Klein, Kuyper, Lohmann, Lowrie, Malone, Martlé, McCall, Meyer-Lindenberg, Meyers, Meyers, Meyers, Meyers, Müller, Nardocci, Nollet, Nollet, Obeso, Ostrander, Ozelius, Packer, Packer, Pariset, Park, Paudel, Penderis, Peters, Peterson, Prudente, Quartarone, Quartarone, Raike, Ramsey, Rascol, Richter, Richter, Richter, Richter, Richter, Ridding, Rothwell, Rothwell, Rusbridge, Sacchetto, Sanger, Shelton, Stoessl, Suls, Testoni, Thenganatt, Tolosa, Urkasemsin, Valberg, Vanhaesebrouck, Wichmann, Wilson, Wissel, Woods, Wright, Wright, Yanagisawa   +116 more
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New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms [PDF]

, 2013
Background: Hyperekplexia mutations have provided much information about glycine receptor structure and function. Results: Weidentified and characterized nine new mutations.
Alfred P. Born, Amanda Krause, Amira Masri, Angelo Keramidas, Anna Bode, Bakker, Beato, Bellini, Brune, Bulent Kara, Butler, Catherine Vincent-Delorme, Chen, Cheney J.G. Drew, Chung, Chung, Corringer, Davies, Elie G. Karam, Elizabeth A. Jones, Emma Hobson, Engel, Estrada-Mondragón, Eswar, Fusun Alehan, Gail E. Graham, Gerald Bannasch, Grace Vassallo, Graham, Grudzinska, Grünberg, Haeger, Hanna Mandel, Harvey, Hibbs, Humeny, Islam, James, Jean-François Vanbellinghen, Jonathan G.L. Mullins, Joseph W. Lynch, Jubran E. Rahme, Kang, Kling, Kruger, Langosch, Lynch, Lynch, Lynch, Marius Bartsch, Mark I. Rees, Michael Freilinger, Miraglia Del Giudice, Notredame, Owain W. Howell, Pettersen, Pless, Pless, Pless, Pons, Rajendra, Rea, Rees, Rees, Rees, Rhys H. Thomas, Ryan, Samuel F. Berkovic, Saul, Seo-Kyung Chung, Sharon Aharoni, Shiang, Shiang, Sian-Elin Wood, Simon, Stephanie Matta, Sue Chatfield, Thomas, Thomas, Thomas D. Cushion, Unterer, Vergouwe, Villmann, Villmann, Vivek Jain, Wang, Wheeler, William O. Pickrell, Yang, Zaid Afawi   +89 more
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Identification of a stereotypic molecular arrangement of endogenous glycine receptors at spinal cord synapses

eLife, 2021
Precise quantitative information about the molecular architecture of synapses is essential to understanding the functional specificity and downstream signaling processes at specific populations of synapses.
Stephanie A Maynard, Philippe Rostaing, Natascha Schaefer, Olivier Gemin, Adrien Candat, Andréa Dumoulin, Carmen Villmann, Antoine Triller, Christian G Specht   +8 more
doaj   +1 more source

Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. [PDF]

, 2015
Recent studies on the pathogenic mechanisms of recessive hyperekplexia indicate disturbances in glycine receptor (GlyR) α1 biogenesis. Here, we examine the properties of a range of novel glycine receptor mutants identified in human hyperekplexia patients
Becker, Cord-Michael, Brockmann, Knut, Hartmann, Stephanie, Kluck, Christoph J, Langlhofer, Georg, Lummis, Sarah CR, Lynch, Bryan, Meiselbach, Heike, Price, Kerry L, Schaefer, Natascha, Schlegel, Nadja, Schulz, Solveig, Schwarzinger, Stephan, Villmann, Carmen, Vornberger, Nadine   +14 more
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A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

BMC Medical Genetics, 2017
Background The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1.
Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu   +4 more
doaj   +1 more source