Genomes and Genes
Gene Symbol: GLRA1
Description: glycine receptor alpha 1
Alias: HKPX1, STHE, glycine receptor subunit alpha-1, glycine receptor 48 kDa subunit, glycine receptor strychnine-binding subunit
Publications185 found, 100 shown here
- Rajendra S, Lynch J, Pierce K, French C, Barry P, Schofield P. Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J Biol Chem. 1994;269:18739-42 pubmed..Thus, startle disease reduces the efficacy of glycinergic inhibitory neurotransmission by producing GlyRs with diminished agonist responsiveness. Our results show that startle disease mutations define a novel receptor activation site. ..
- Laube B, Kuhse J, Betz H. Kinetic and mutational analysis of Zn2+ modulation of recombinant human inhibitory glycine receptors. J Physiol. 2000;522 Pt 2:215-30 pubmed..5. Our data support the view that Zn2+ modulates different steps of the receptor binding and gating cycle via specific allosteric high- and low-affinity binding sites in the extracellular N-terminal region of the GlyR alpha1 subunit. ..
- Moorhouse A, Keramidas A, Zaykin A, Schofield P, Barry P. Single channel analysis of conductance and rectification in cation-selective, mutant glycine receptor channels. J Gen Physiol. 2002;119:411-25 pubmed..These results also further confirm the role of external pore vestibule electrostatics in determining the conductance and rectification properties of the ligand-gated ion channels. ..
- Chung S, Vanbellinghen J, Mullins J, Robinson A, Hantke J, Hammond C, et al. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. J Neurosci. 2010;30:9612-20 pubmed publisher..is primarily caused by inherited mutations in the genes encoding the glycine receptor (GlyR) alpha1 subunit (GLRA1) and the presynaptic glycine transporter GlyT2 (SLC6A5)...
- Shan Q, Han L, Lynch J. Function of hyperekplexia-causing ?1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway. Br J Pharmacol. 2012;165:2113-23 pubmed publisher..Such a strategy makes it possible to design an ideal drug, which only corrects the function of the mutant or modified protein without affecting the WT or naive protein. ..
- Jazebi N, Rodrigo S, Gogia B, Shawagfeh A. Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature. J Neuroimmunol. 2019;332:135-137 pubmed publisher..Our patient was successfully treated with IVIg. On day 14 after starting IVIg treatment, his neurological symptoms started to improve and ultimately returned to baseline. ..
- Rees M, Lewis T, Vafa B, Ferrie C, Corry P, Muntoni F, et al. Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet. 2001;109:267-70 pubmed..Dominant and recessive mutations in GLRA1 subunits have been associated with a proportion of individuals and families with startle disease or hyperekplexia (..
- Rakocevic G, Alexopoulos H, Dalakas M. Quantitative clinical and autoimmune assessments in stiff person syndrome: evidence for a progressive disorder. BMC Neurol. 2019;19:1 pubmed publisher..One of the main findings is that SPS is a progressive disease leading to physical disability over time. ..
- Sprovieri T, Ungaro C, Sivo S, Quintiliani M, Contaldo I, Veredice C, et al. Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report. BMC Med Genet. 2019;20:40 pubmed publisher..based on clinical findings, pathogenic variants in five genes have been reported to cause Hyperekplexia, of which GLRA1 accounts for about 80% of cases...
- Bode A, Wood S, Mullins J, Keramidas A, Cushion T, Thomas R, et al. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. J Biol Chem. 2013;288:33745-59 pubmed publisher..Most hyperekplexia cases are caused by mutations in the ?1 subunit of the human glycine receptor (hGlyR) gene (GLRA1)...
- Smith S, Fu J. Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. J Rehabil Med. 2016;48:639-42 pubmed publisher..Both patients had a reduction in symptom burden and an improvement in motor function as a result of multidisciplinary acute inpatient rehabilitation. ..
- Chéramy M, Hampe C, Ludvigsson J, Casas R. Characteristics of in-vitro phenotypes of glutamic acid decarboxylase 65 autoantibodies in high-titre individuals. Clin Exp Immunol. 2013;171:247-54 pubmed publisher..However, occasional overlap between the groups exists, and caution is indicated when drawing conclusions to health or disease status. ..
- Seven S, FanÃ¸ N. [Stiff person syndrome is a rare autoimmune disorder]. Ugeskr Laeger. 2015;177: pubmed..Stiffness was absent while sleeping. Thorough clinical examination and tests were unable to explain the symptomology until suspicion of SPS was raised, supported by high levels of glutamic acid decarboxylase antibodies. ..
- Spiers H, Hannon E, Wells S, Williams B, Fernandes C, Mill J. Age-associated changes in DNA methylation across multiple tissues in an inbred mouse model. Mech Ageing Dev. 2016;154:20-3 pubmed publisher..We selected four high-confidence aDMPs (located in the vicinity of the ELOVL2, GLRA1, MYOD1 and PDE4C genes) and quantified DNA methylation across these regions in four tissues (blood, lung, ..
- Ruthstein S, Stone K, Cunningham T, Ji M, Cascio M, Saxena S. Pulsed electron spin resonance resolves the coordination site of Cu²(+) ions in α1-glycine receptor. Biophys J. 2010;99:2497-506 pubmed publisher..Intriguingly, the E192/H215 site has been proposed as the potentiating Zn²(+) site. The opposing modulatory actions of these cations at a shared binding site highlight the sensitive allosteric nature of GlyR. ..
- AriÃ±o H, HÃ¶ftberger R, Gresa Arribas N, MartÃnez HernÃ¡ndez E, Armangue T, Kruer M, et al. Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies. JAMA Neurol. 2015;72:874-81 pubmed publisher..The risk for cancer increases with age, male sex, and the presence of coexisting neuronal cell-surface antibodies. ..
- Kaneko J, Kanazawa N, Tominaga N, Kaneko A, Suga H, Usui R, et al. Practical issues in measuring autoantibodies to neuronal cell-surface antigens in autoimmune neurological disorders: 190 cases. J Neurol Sci. 2018;390:26-32 pubmed publisher..NMDAR, LGI1 and GlyR were associated with clinical phenotype. Cell-surface antigens should be determined based on individual phenotype. ..
- Seri M, Bolino A, Galietta L, Lerone M, Silengo M, Romeo G. Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor. Hum Mutat. 1997;9:185-7 pubmed
- Yevenes G, Moraga Cid G, Guzman L, Haeger S, Oliveira L, Olate J, et al. Molecular determinants for G protein betagamma modulation of ionotropic glycine receptors. J Biol Chem. 2006;281:39300-7 pubmed..Our results demonstrate for the first time the sites for G protein betagamma subunit modulation on GlyRs and provide a new framework regarding the ligand-gated ion channel superfamily regulation by intracellular signaling. ..
- Zhang C, Rompani S, Roska B, McCall M. Adeno-associated virus-RNAi of GlyRÎ±1 and characterization of its synapse-specific inhibition in OFF alpha transient retinal ganglion cells. J Neurophysiol. 2014;112:3125-37 pubmed publisher..Comparisons of responses in PV5 RGCs infected with AAV-scrambled-short hairpin RNA (shRNA) or AAV-Glra1-shRNA confirm a role for GlyRÎ±1 in crossover inhibition in cone-driven circuits...
- Taneera J, Fadista J, Ahlqvist E, Atac D, Ottosson Laakso E, Wollheim C, et al. Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia. Hum Mol Genet. 2015;24:1945-55 pubmed publisher..high glucose for 24 h resulted in up-regulation of GNG5 and PPP1R1A expression, whereas the expression of ENO2 and GLRA1 was down-regulated. No effect was seen on the expression of FAM105A and PLCXD3...
- Huang Z, Lian Y, Xu H, Zhang H. Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?. Seizure. 2018;58:6-8 pubmed publisher..HPX is caused mainly by mutations in the GLRA1 gene, and has a good response to clonazepam...
- de Albóniga Chindurza A, Riva E, Jiménez Huete A, Graus F, Franch O. Paraneoplastic stiff person syndrome with small cell carcinoma of the bladder and anti-Ri antibodies. Clin Neurol Neurosurg. 2018;173:194-195 pubmed publisher..Paraneoplastic patients usually present amphiphysin antibodies but the association with anti-Ri antibodies is less known. We present a case report of paraneoplastic SPS, small cell carcinoma of the bladder and anti-Ri antibodies. ..
- Pawar H, Balivada S, Kenney M. Does acute heat stress differentially-modulate expression of ionotropic neurotransmitter receptors in the RVLM of young and aged F344 rats?. Neurosci Lett. 2018;687:223-233 pubmed publisher..heat stress increased the gene expression of RVLM inhibitory receptor subunits in aged (Gabra1, Gabra2, Gabra5, Glra1) and young (Gabra1) F344 rats at mRNA level, with little change in the expression of RVLM excitatory receptor ..
- Milenkovic I, Zimprich A, Gencik M, Platho Elwischger K, Seidel S. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia. J Neural Transm (Vienna). 2018;125:1877-1883 pubmed publisher..All exons in the glycine receptor alpha 1 subunit gene (GLRA1) were sequenced in all four family members. Our index patient harbored a novel nonsense mutation (p...
- Bormann J, Rundström N, Betz H, Langosch D. Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers. EMBO J. 1994;13:1493 pubmed
- Manto M, Mitoma H, Hampe C. Anti-GAD Antibodies and the Cerebellum: Where Do We Stand?. Cerebellum. 2019;18:153-156 pubmed publisher..Internalization of autoantibodies has been also clarified. These studies provide substantial evidence of the pathogenesis of anti-GAD65 Abs in CA. We also discuss methodological problems in the identification of anti-GAD65 Abs. ..
- Gao L, Li C, Yang R, Lian W, Fang J, Pang X, et al. Ameliorative effects of baicalein in MPTP-induced mouse model of Parkinson's disease: A microarray study. Pharmacol Biochem Behav. 2015;133:155-63 pubmed publisher..of gene co-expression networks, the results indicated that the regulation of genes such as LIMK1, SNCA and GLRA1 by baicalein might play central roles in the network...
- Horani S, Stater E, Corringer P, Trudell J, Harris R, Howard R. Ethanol Modulation is Quantitatively Determined by the Transmembrane Domain of Human Î±1 Glycine Receptors. Alcohol Clin Exp Res. 2015;39:962-8 pubmed publisher..This work highlights the relevance of bacterial homologs as valuable model systems for studying ion channel function of human receptors and demonstrates the modularity of these channels across species. ..
- Zhou W, Xia Z, Georgiou G, Shu H. The Distinct Roles of Dorsal and Ventral Visual Systems in Naming of Chinese Characters. Neuroscience. 2018;390:256-264 pubmed publisher..These results suggest that while the dorsal visual system is mainly engaged in eye-movement control, the ventral system is associated more with orthographic processing and orthography-phonology mapping. ..
- Vergouwe M, Tijssen M, Shiang R, van Dijk J, al Shahwan S, Ophoff R, et al. Hyperekplexia-like syndromes without mutations in the GLRA1 gene. Clin Neurol Neurosurg. 1997;99:172-8 pubmed..Linkage analysis mapped a gene for this disorder to chromosome 5q33-q35. Subsequently, mutations in the GLRA1 gene encoding the alpha 1-subunit of the glycine receptor proved to be causally related to the disease...
- Mishra B, Wu T, Belfer I, Hodgkinson C, Cohen L, Kiselycznyk C, et al. Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?. Mol Pain. 2007;3:20 pubmed..Similar methods might be applied a larger set of genes in animal models and human laboratory and clinical studies to understand the causes and prevention of pain-related reduction in movement. ..
- Yim P, Gallos G, Xu D, Zhang Y, Emala C. Novel expression of a functional glycine receptor chloride channel that attenuates contraction in airway smooth muscle. FASEB J. 2011;25:1706-17 pubmed publisher..Messenger RNA for ? (GLRB), ?1 (GLRA1), ?2 (GLRA2), and ?4 (GLRA4) subunits were found in human (Homo sapiens) and guinea pig (Cavia porcellus) tracheal ..
- Fouka P, Alexopoulos H, Akrivou S, Trohatou O, Politis P, Dalakas M. GAD65 epitope mapping and search for novel autoantibodies in GAD-associated neurological disorders. J Neuroimmunol. 2015;281:73-7 pubmed publisher..We conclude that no GAD-specific epitope defines any neurological syndrome but other antibody specificities may account for certain phenotypes. ..
- WELSH B, Todorovic J, Kirson D, Allen H, BAYLY M, Mihic S. Disruption of a putative intersubunit electrostatic bond enhances agonist efficacy at the human Î±1 glycine receptor. Brain Res. 2017;1657:148-155 pubmed publisher..Our findings suggest that the determination of efficacy following ligand binding to the glycine receptor may involve the disruption of an intersubunit electrostatic interaction occurring near the agonist binding site. ..
- Jun H, Yum M, Kim E, Lee Y, Seo J, Ko T. A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. Pediatr Neurol. 2015;53:448-51 pubmed publisher..In children with a malignancy and stiff person syndrome, a paraneoplastic syndrome should be considered and the treatment for the malignancy must be undertaken. ..
- Thomas R, Drew C, Wood S, Hammond C, Chung S, Rees M. Ethnicity can predict GLRA1 genotypes in hyperekplexia. J Neurol Neurosurg Psychiatry. 2015;86:341-3 pubmed publisherHyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance...
- Honorat J, McKeon A. Autoimmune Movement Disorders: a Clinical and Laboratory Approach. Curr Neurol Neurosci Rep. 2017;17:4 pubmed publisher..The antibody specificity may predict the association with cancer and the response to immunotherapy. In this article, we review autoimmune-mediated movement disorders, associated cancers, diagnosis, and treatment. ..
- Liu Z, Ramanoudjame G, Liu D, Fox R, Jayaraman V, Kurnikova M, et al. Overexpression and functional characterization of the extracellular domain of the human alpha1 glycine receptor. Biochemistry. 2008;47:9803-10 pubmed publisher..Thus, GlyBP may be isolated as a soluble or membrane-associated assembly that serves as a structural and functional homologue of the ECD of GlyR. ..
- No S, Im I, Kim D. Stiff Person Syndrome With Evidence of Nonspecific Focal Myositis Secondary to Sustained Muscle Contraction: A Case Report. PM R. 2018;10:1426-1430 pubmed publisher..With immunotherapy, her serum creatinine kinase levels reduced; however, her clinical symptoms progressively worsened. LEVEL OF EVIDENCE: V. ..
- Vale T, Pedroso J, AlquÃ©res R, Dutra L, Barsottini O. Spontaneous downbeat nystagmus as a clue for the diagnosis of ataxia associated with anti-GAD antibodies. J Neurol Sci. 2015;359:21-3 pubmed publisher..The finding of DBN may work as a diagnostic clue in the context of adult-onset non-hereditary ataxias. ..
- Miraglia del Giudice E, Coppola G, Bellini G, Ledaal P, Hertz J, Pascotto A. 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. J Med Genet. 2003;40:e71 pubmed
- Forsyth R, Gika A, Ginjaar I, Tijssen M. A novel GLRA1 mutation in a recessive hyperekplexia pedigree. Mov Disord. 2007;22:1643-5 pubmedWe report 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.
- Tobin W, Lennon V, Komorowski L, Probst C, Clardy S, Aksamit A, et al. DPPX potassium channel antibody: frequency, clinical accompaniments, and outcomes in 20 patients. Neurology. 2014;83:1797-803 pubmed publisher..DPPX-IgG was not detected in any of the stiff-person syndrome patients. DPPX-IgG is a biomarker for an immunotherapy-responsive multifocal neurologic disorder of the central and autonomic nervous systems. ..
- Cassavaugh J, Oravitz T. Multiple anesthetics for a patient with stiff-person syndrome. J Clin Anesth. 2016;31:197-9 pubmed publisher..Unlike several previous reports regarding anesthesia and stiff-person syndrome, the postoperative period for this patient did not require prolonged intubation or result in any residual weakness. ..
- Shiang R, Ryan S, Zhu Y, Hahn A, O Connell P, Wasmuth J. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet. 1993;5:351-8 pubmed..describe the identification of point mutations in the gene encoding the alpha 1 subunit of the glycine receptor (GLRA1) in STHE patients from four different families...
- Esplin N, Stelzer J, Legare T, Ali S. Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity. Case Rep Neurol Med. 2017;2017:2580620 pubmed publisher..It generally presents in the axial musculature but rarely can involve only one limb, typically a lower extremity. In rare cases it can be paraneoplastic which generally resolves on treatment of the underlying neoplasm...
- Masri A, Chung S, Rees M. Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. Brain Dev. 2017;39:306-311 pubmed publisher..3%) patient. The mode of inheritance is autosomal recessive in all 12/12 (100%) families. Mutations in GLRA1 gene was present in 9/16 (56.3%); the most common mutation was in p.G254D (4/9; 44.5%)...
- Chang T, Lang B, Vincent A. Stiff person syndrome in South Asia. BMC Res Notes. 2016;9:468 pubmed..An autoimmune basis lends stiff person syndrome amenable to treatment highlighting the importance of diagnosis. This case adds to map the worldwide distribution of stiff person syndrome. ..
- Dupre M, Broyles J, Mihic S. Effects of a mutation in the TM2-TM3 linker region of the glycine receptor alpha1 subunit on gating and allosteric modulation. Brain Res. 2007;1152:1-9 pubmed..Our 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. ..
- Tohid H. Anti-glutamic acid decarboxylase antibody positive neurological syndromes. Neurosciences (Riyadh). 2016;21:215-22 pubmed publisher..Therefore, it is recommended that more research is conducted on this subject to obtain a better and deeper understanding of these anti-GAD antibody induced neurological syndromes. ..
- Yağan Ö, Ozyilmaz K, Özmaden A, Sayin Ö, Hanci V. Anesthesia in a patient with Stiff Person Syndrome. Braz J Anesthesiol. 2016;66:543-5 pubmed publisher..We think the TIVA technique, a general anesthetic practice which does not require neuromuscular blockage, is suitable for these patients. ..
- Shan Q, Haddrill J, Lynch J. Comparative surface accessibility of a pore-lining threonine residue (T6') in the glycine and GABA(A) receptors. J Biol Chem. 2002;277:44845-53 pubmed..The results also indicate that the GABA(A)R pore structure at the 6' level may vary between different expression systems. ..
- Monani U, Burghes A. Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR. Genome Res. 1996;6:1200-6 pubmed..The structures of the alpha subunit glycine receptor genes in humans are very similar to each other and to the alpha subunit genes in mice. ..
- Ryan S, Dixon M, Nigro M, Kelts K, Markand O, Terry J, et al. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet. 1992;51:1334-43 pubmedHyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to ..
- Grenningloh G, Schmieden V, Schofield P, Seeburg P, Siddique T, Mohandas T, et al. Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J. 1990;9:771-6 pubmed..2-p22.1) of the human X chromosome. In contrast, the alpha 1 subunit gene is autosomally located. These data indicate molecular heterogeneity of the human GlyR at the level of alpha subunit genes. ..
- Nevin S, Cromer B, Haddrill J, Morton C, Parker M, Lynch J. Insights into the structural basis for zinc inhibition of the glycine receptor. J Biol Chem. 2003;278:28985-92 pubmed..The binding of zinc at the interface between adjacent alpha1 subunits could restrict intersubunit movements, providing a feasible mechanism for the inhibition of channel activation by zinc. ..
- Mine J, Taketani T, Yoshida K, Yokochi F, Kobayashi J, Maruyama K, et al. Clinical and genetic investigation of 17 Japanese patients with hyperekplexia. Dev Med Child Neurol. 2015;57:372-7 pubmed publisher..Mutations in the GLRA1 and GLRB genes were identified in 16 patients and one patient respectively...
- Agca S, Houen G, Trier N. Characterization of continuous B-cell epitopes in the N-terminus of glutamate decarboxylase67 using monoclonal antibodies. J Pept Sci. 2014;20:928-34 pubmed publisher..As only limited knowledge is available in relation to antigenic regions of GAD67, this study contributes to characterization of GAD67 epitopes and may be a first step in the development of peptide-based therapeutics against SPS. ..
- Rakocevic G, Floeter M. Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. Muscle Nerve. 2012;45:623-34 pubmed publisher..In this review, we discuss the clinical spectrum, neurophysiological mechanisms, and therapeutic options, including a rationale for agents that modulate B-cell function in SPS. ..
- Carvajal González A, Leite M, Waters P, Woodhall M, Coutinho E, Balint B, et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain. 2014;137:2178-92 pubmed publisher..The presence of glycine receptor antibodies should help to identify a disease that responds to immunotherapies, but these treatments may need to be sustained, relapses can occur and maintenance immunosuppression may be required. ..
- Ganelin Cohen E, Modan Moses D, Hemi R, Kanety H, Ben Zeev B, Hampe C. Epilepsy and behavioral changes, type 1 diabetes mellitus and a high titer of glutamic acid decarboxylase antibodies. Pediatr Diabetes. 2016;17:617-622 pubmed publisher..Careful titration and characterization of GAD65Ab regarding inhibition of enzyme activity and epitope specificity may be helpful in identifying T1D patients at risk for neurological complications. ..
- Brune W, Weber R, Saul B, von Knebel Doeberitz M, Grond Ginsbach C, Kellerman K, et al. A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors. Am J Hum Genet. 1996;58:989-97 pubmedDominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia...
- Noh J, Choi S, Lee J, Betz H, Kim J, Park C, et al. Effects of ginsenosides on glycine receptor alpha1 channels expressed in Xenopus oocytes. Mol Cells. 2003;15:34-9 pubmed..These results indicate that ginsenosides might regulate gylcine receptor expressed in Xenopus oocytes and this regulation might be one of the pharmacological actions of Panax ginseng. ..
- Bellini G, Miceli F, Mangano S, Miraglia del Giudice E, Coppola G, Barbagallo A, et al. Hyperekplexia caused by dominant-negative suppression of glyra1 function. Neurology. 2007;68:1947-9 pubmed
- Siebert L, Staton M, Headrick S, Lewis M, Gillespie B, Young C, et al. Genome-wide association study identifies loci associated with milk leukocyte phenotypes following experimental challenge with Streptococcus uberis. Immunogenetics. 2018;70:553-562 pubmed publisher..have been recognized in relation to infectious processes (ATF7, SGK1, and PACRG), but others less so (TRIO, GLRA1, CELSR2, TIAM2, CPE). Further investigation of these genes and their roles in inflammation (e.g...
- Langosch D, Herbold A, Schmieden V, Borman J, Kirsch J. Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors. FEBS Lett. 1993;336:540-4 pubmed..Thus, residue R219, which corresponds to an arginine/lysine conserved in other ligand-gated ion channel polypeptides, is essential for correct biogenesis of the receptor. ..
- Bray C, Son J, Kumar P, Harris J, Meizel S. A role for the human sperm glycine receptor/Cl(-) channel in the acrosome reaction initiated by recombinant ZP3. Biol Reprod. 2002;66:91-7 pubmed
- Murail S, Wallner B, Trudell J, Bertaccini E, Lindahl E. Microsecond simulations indicate that ethanol binds between subunits and could stabilize an open-state model of a glycine receptor. Biophys J. 2011;100:1642-50 pubmed publisher..Finally, ethanol appears to stabilize the GlyR model built on a presumably open form of the ligand-gated channel. This stabilization could help explain the effects of allosteric ligand binding in Cys-loop receptors. ..
- Tumani H, Brettschneider J. Biochemical markers of autoimmune diseases of the nervous system. Curr Pharm Des. 2012;18:4556-63 pubmed..We provide an overview over the widening field of autoimmune diseases of the central and peripheral nervous system and discuss the current state of biomarker research and its relevance for clinical practice. ..
- Jachiet V, Lainé L, Gendre T, Henry C, Da Silva D, de Montmollin E. Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. Neurocrit Care. 2016;25:455-457 pubmed..Early immunotherapy should be started in such situations, including intravenous immunoglobulins as the first-line treatment. ..
- Lim T. Paraneoplastic autoimmune movement disorders. Parkinsonism Relat Disord. 2017;44:106-109 pubmed publisher..Movement disorders may be a presentation for paraneoplastic autoimmune disorders. Recognition of these disorders and their common phenomenology is important because it may lead to the discovery of an occult malignancy. ..
- Abderrahman H, Al Abdallat I, Idhair A. Age threshold for proper definition of premature coronary artery disease in males. J Forensic Leg Med. 2018;58:45-49 pubmed publisher..b>sThe "turn-interval" was considered as the scientific basis to define the age threshold that differentiates the ..
- Humeny A, Bonk T, Becker K, Jafari Boroujerdi M, Stephani U, Reuter K, et al. A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking. Eur J Hum Genet. 2002;10:188-96 pubmed..Several autosomal dominant and recessive forms of the disorder have been associated with point mutations in GLRA1, the human gene encoding the alpha 1 subunit of the inhibitory glycine receptor...
- Tang P, Mandal P, Xu Y. NMR structures of the second transmembrane domain of the human glycine receptor alpha(1) subunit: model of pore architecture and channel gating. Biophys J. 2002;83:252-62 pubmed..A similar pore architecture and gating mechanism may apply to other channels in the same superfamily, including GABA(A), nACh, and 5-HT(3) receptors. ..
- Mowrey D, Cui T, Jia Y, Ma D, Makhov A, Zhang P, et al. Open-channel structures of the human glycine receptor ?1 full-length transmembrane domain. Structure. 2013;21:1897-904 pubmed publisher..Our structures provide additional templates for identifying potential drug targets in GlyRs and other mammalian pLGICs. ..
- MaludziÅ„ska E, RudziÅ„ska M, StÄ™pieÅ„ A, Szczudlik A. A case report of patient with cerebellar variant of stiff person syndrome. Neurol Neurochir Pol. 2016;50:59-62 pubmed publisher..This cerebellar variant is a distinct subset of SPS with more severe and complex clinical phenotype. We report the clinical, neuropsychological and neuroradiological findings in a 39-year-old female with cerebellar variant of SPS. ..
- Liimatainen S, Honnorat J, Pittock S, McKeon A, Manto M, Radtke J, et al. GAD65 autoantibody characteristics in patients with co-occurring type 1 diabetes and epilepsy may help identify underlying epilepsy etiologies. Orphanet J Rare Dis. 2018;13:55 pubmed publisher..In one group T1D co-occurs with non-autoimmune epilepsy. In the other group GAD65Ab are part of an autoimmune epileptic condition. ..
- Schorderet D, Pescia G, Bernasconi A, Regli F. An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet. 1994;3:1201 pubmed
- Schaefer N, Kluck C, Price K, Meiselbach H, Vornberger N, Schwarzinger S, et al. Disturbed neuronal ER-Golgi sorting of unassembled glycine receptors suggests altered subcellular processing is a cause of human hyperekplexia. J Neurosci. 2015;35:422-37 pubmed publisher..We suggest that loop D/Î²2-3 is an important determinant for GlyR trafficking and functionality, whereas alterations to loop B alter agonist potencies, indicating that residues here are critical elements in ligand binding. ..
- Gu Urban G, Friedman M, Ren P, Torn C, Fex M, Hampe C, et al. Elevated Serum GAD65 and GAD65-GADA Immune Complexes in Stiff Person Syndrome. Sci Rep. 2015;5:11196 pubmed publisher..The proximity ligation assays applied for detection of GAD65 and its immune complexes may thus enable improved diagnosis and better understanding of SPS. ..
- Hall E, Dekker Nitert M, Volkov P, Malmgren S, Mulder H, Bacos K, et al. The effects of high glucose exposure on global gene expression and DNA methylation in human pancreatic islets. Mol Cell Endocrinol. 2018;472:57-67 pubmed publisher..to 19 mM glucose resulted in significantly altered expression of eight genes (FDR<5%), with five of these (GLRA1, RASD1, VAC14, SLCO5A1, CHRNA5) also exhibiting changes in DNA methylation (p < 0.05)...
- Nakajima H, Nakamura Y, Inaba Y, Tsutsumi C, Unoda K, Hosokawa T, et al. Neurologic disorders associated with anti-glutamic acid decarboxylase antibodies: A comparison of anti-GAD antibody titers and time-dependent changes between neurologic disease and type I diabetes mellitus. J Neuroimmunol. 2018;317:84-89 pubmed publisher..Immunotherapy improved neurological disorders and anti-GAD-Ab titers and index provide clinically meaningful information about their diagnostic accuracy. ..