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Glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome), also known as GLRA1, is a human gene.
The inhibitory glycine receptor mediates postsynaptic inhibition in the spinal cord and other regions of the central nervous system. It is a pentameric receptor composed of alpha and beta subunits. The GLRB gene (MIM 138492) encodes the beta subunit of the receptor.[supplied by OMIM][1]
See also
References
Further reading
- Ryan SG, Sherman SL, Terry JC, et al. (1992). "Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.". Ann. Neurol. 31 (6): 663–8. doi:. PMID 1355335.
- Ruiz-Gómez A, Vaello ML, Valdivieso F, Mayor F (1991). "Phosphorylation of the 48-kDa subunit of the glycine receptor by protein kinase C.". J. Biol. Chem. 266 (1): 559–66. PMID 1845981.
- Grenningloh G, Schmieden V, Schofield PR, et al. (1990). "Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.". EMBO J. 9 (3): 771–6. PMID 2155780.
- Langosch D, Herbold A, Schmieden V, et al. (1994). "Importance of Arg-219 for correct biogenesis of alpha 1 homooligomeric glycine receptors.". FEBS Lett. 336 (3): 540–4. PMID 7506679.
- Shiang R, Ryan SG, Zhu YZ, et al. (1995). "Mutational analysis of familial and sporadic hyperekplexia.". Ann. Neurol. 38 (1): 85–91. doi:. PMID 7611730.
- Baker E, Sutherland GR, Schofield PR (1995). "Localization of the glycine receptor alpha 1 subunit gene (GLRA1) to chromosome 5q32 by FISH.". Genomics 22 (2): 491–3. doi:. PMID 7806244.
- Rees MI, Andrew M, Jawad S, Owen MJ (1995). "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.". Hum. Mol. Genet. 3 (12): 2175–9. PMID 7881416.
- Ryan SG, Buckwalter MS, Lynch JW, et al. (1994). "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.". Nat. Genet. 7 (2): 131–5. doi:. PMID 7920629.
- Langosch D, Laube B, Rundström N, et al. (1994). "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia.". EMBO J. 13 (18): 4223–8. PMID 7925268.
- Schorderet DF, Pescia G, Bernasconi A, Regli F (1995). "An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.". Hum. Mol. Genet. 3 (7): 1201. PMID 7981700.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
- Bormann J, Rundström N, Betz H, Langosch D (1994). "Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers.". EMBO J. 13 (6): 1493. PMID 8137830.
- Shiang R, Ryan SG, Zhu YZ, et al. (1994). "Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.". Nat. Genet. 5 (4): 351–8. doi:. PMID 8298642.
- Milani N, Dalprá L, del Prete A, et al. (1996). "A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.". Am. J. Hum. Genet. 58 (2): 420–2. PMID 8571969.
- Brune W, Weber RG, Saul B, et al. (1996). "A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.". Am. J. Hum. Genet. 58 (5): 989–97. PMID 8651283.
- Elmslie FV, Hutchings SM, Spencer V, et al. (1996). "Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.". J. Med. Genet. 33 (5): 435–6. PMID 8733061.
- Monani U, Burghes AH (1997). "Structure of the human alpha 2 subunit gene of the glycine receptor--use of vectorette and Alu-exon PCR.". Genome Res. 6 (12): 1200–6. PMID 8973915.
- Seri M, Bolino A, Galietta LJ, et al. (1997). "Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.". Hum. Mutat. 9 (2): 185–7. doi:. PMID 9067762.
- Vergouwe MN, Tijssen MA, Shiang R, et al. (1998). "Hyperekplexia-like syndromes without mutations in the GLRA1 gene.". Clinical neurology and neurosurgery 99 (3): 172–8. PMID 9350397.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
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