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Glycine receptor, alpha 1

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor. The receptor mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: Alpha-1, ACID, CAN, Tactile, Smad1
Papers on GLRA1
Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood.
Ling et al., Copenhagen, Denmark. In Hum Mol Genet, Aug 2015
Interestingly, many reported epigenetic biomarkers of aging in blood, including ELOVL2, FHL2, KLF14 and GLRA1, also showed significant correlations between adipose tissue DNA methylation and age in our study.
Ameliorative effects of baicalein in MPTP-induced mouse model of Parkinson's disease: A microarray study.
Du et al., Beijing, China. In Pharmacol Biochem Behav, Jun 2015
Based on analysis 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.
Anesthetic management of a parturient with hyperekplexia.
Camann et al., Boston, United States. In A A Case Rep, May 2015
In some cases, a mutation encoding the postsynaptic inhibitory glycine receptors (GLRA1, GLRB) or presynaptic glycine transporter (SLC6A5) resulting in abnormal glycinergic neurotransmission is present.
Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.
Groop et al., Malmö, Sweden. In Hum Mol Genet, May 2015
Exposure of human islets to high glucose for 24 h resulted in up-regulation of GNG5 and PPP1R1A expression, whereas the expression of ENO2 and GLRA1 was down-regulated.
Clinical and genetic investigation of 17 Japanese patients with hyperekplexia.
Yamaguchi et al., Izumo, Japan. In Dev Med Child Neurol, Apr 2015
Mutations in the GLRA1 and GLRB genes were identified in 16 patients and one patient respectively.
Adeno-associated virus-RNAi of GlyRα1 and characterization of its synapse-specific inhibition in OFF alpha transient retinal ganglion cells.
McCall et al., Basel, Switzerland. In J Neurophysiol, 2015
Comparisons of responses in PV5 RGCs infected with AAV-scrambled-short hairpin RNA (shRNA) or AAV-Glra1-shRNA confirm a role for GlyRα1 in crossover inhibition in cone-driven circuits.
Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy.
Ling et al., Malmö, Sweden. In Bmc Med, 2014
RESULTS: We identified differential DNA methylation of 349 CpG sites representing 233 unique genes including TNF, CHI3L1 (also known as YKL-40), CHN2, GIPR, GLRA1, GPX1, AHRR, and BCOR in cases with PDR compared with controls.
Glycine receptor mouse mutants: model systems for human hyperekplexia.
Villmann et al., Würzburg, Germany. In Br J Pharmacol, 2013
Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia.
Chen et al., In Continuum (minneap Minn), 2013
Mutations in the glycine receptor (GlyR) α1-subunit gene (GLRA1) explain the major expression of hyperekplexia, an inherited excessive startle disorder, butnewly identified mutations in GlyR β-subunit (GLRB) and glycine transporter 2 (GlyT2) genes (SLC6A5) account for "minor" forms of this disorder manifested as excessive startle and hypnic jerks.
Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway.
Lynch et al., Brisbane, Australia. In Br J Pharmacol, 2012
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.
Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.
Harvey et al., London, United Kingdom. In Biol Chem, 2012
The primary cause of startle disease is defective inhibitory glycinergic transmission due to mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1).
Characterization of two mutations, M287L and Q266I, in the α1 glycine receptor subunit that modify sensitivity to alcohols.
Harris et al., Austin, United States. In J Pharmacol Exp Ther, 2012
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.
Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.
Al-Yahyaee et al., Muscat, Oman. In Pediatr Neurol, 2012
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.
The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.
Sivilotti et al., London, United Kingdom. In J Neurosci, 2012
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.
β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.
Lynch et al., Brisbane, Australia. In Plos One, 2010
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.
Rees et al., Seattle, United States. In Unknown Journal, 2007
GLRA1, encoding glycine receptor subunit α1, accounts for about 80% of HPX.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Harvey et al., Swansea, United Kingdom. In Nat Genet, 2006
Hyperekplexia is a human neurological disorder characterized by an excessive startle response and is typically caused by missense and nonsense mutations in the gene encoding the inhibitory glycine receptor (GlyR) alpha1 subunit (GLRA1).
Startle syndromes.
Tijssen et al., Amsterdam, Netherlands. In Lancet Neurol, 2006
This form has a genetic basis: mutations in the alpha1 subunit of the glycine receptor gene, GLRA1, or related genes.
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
O'Connell et al., San Antonio, United States. In Nat Genet, 1994
Hereditary hyperekplexia, an autosomal dominant neurologic disorder characterized by an exaggerated startle reflex and neonatal hypertonia, can be caused by mutations in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor (GLRA1).
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
Wasmuth et al., Irvine, United States. In Nat Genet, 1993
Here we 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.
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