| 1 | SLC6A5, SLC6A9, SLC6A9D
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| Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
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| Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN.
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| Am J Hum Genet 99(5):1172-1180. doi: 10.1016/j.ajhg.2016.09.004. 2016
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| 2 | GSK3B, SLC6A5, SLC6A9
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| Glycine transporters GlyT1 and GlyT2 are differentially modulated by glycogen synthase kinase 3β.
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| Jiménez E, Núñez E, Ibáñez I, Zafra F, Aragón C, Giménez C.
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| Neuropharmacology 89:245-54. doi: 10.1016/j.neuropharm.2014.09.023. Epub 2014 Oct 6.
2015
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| 3 | BDNF, NTRK2, SLC6A5, SLC6A9
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| BDNF, via truncated TrkB receptor, modulates GlyT1 and GlyT2 in astrocytes.
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| Aroeira RI, Sebastião AM, Valente CA.
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| Glia 63(12):2181-97. doi: 10.1002/glia.22884.
2015
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| 4 | ATP2B1, SLC6A5, SLC8A1
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| Presynaptic control of glycine transporter 2 (GlyT2) by physical and functional association with plasma membrane Ca2+-ATPase (PMCA) and Na+-Ca2+ exchanger (NCX).
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| de Juan-Sanz J, Núñez E, Zafra F, Berrocal M, Corbacho I, Ibáñez I, Arribas-González E, Marcos D, López-Corcuera B, Mata AM, Aragón C.
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| J Biol Chem 289(49):34308-24. doi: 10.1074/jbc.M114.586966. Epub 2014 Oct 14.
2014
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| 5 | SLC6A5, SLC6A9
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| GlyT1 and GlyT2 in brain astrocytes: expression, distribution and function.
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| Aroeira RI, Sebastião AM, Valente CA.
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| Brain Struct Funct 219(3):817-30. doi: 10.1007/s00429-013-0537-3. Epub 2013 Mar 26.
2014
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| 6 | GLRA1, GLRB, SLC6A5, STHE1, STHE3, STHE4
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| Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
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| Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI.
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| Brain 136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11.
2013
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| 7 | CANX, SLC6A5
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| Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).
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| Arribas-González E, Alonso-Torres P, Aragón C, López-Corcuera B.
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| PLoS One 8(5):e63230. doi: 10.1371/journal.pone.0063230. Print 2013.
2013
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| 8 | SLC6A5, SLC6A9, UCHL1
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| Constitutive endocytosis and turnover of the neuronal glycine transporter GlyT2 is dependent on ubiquitination of a C-terminal lysine cluster.
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| de Juan-Sanz J, Núñez E, López-Corcuera B, Aragón C.
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| PLoS One 8(3):e58863. doi: 10.1371/journal.pone.0058863. Epub 2013 Mar 6.
2013
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| 9 | SLC6A5, STHE3
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| Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
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| Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.
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| J Biol Chem 287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.
2012
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| 10 | SLC6A5, STHE3
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| A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
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| Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B.
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| J Biol Chem 287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29.
2012
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| 11 | SLC6A5, SLC6A9
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| Transport activities and expression patterns of glycine transporters 1 and 2 in the developing murine brain stem and spinal cord.
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| Lall D, Armbruster A, Ruffert K, Betz H, Eulenburg V.
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| Biochem Biophys Res Commun 423(4):661-6. doi: 10.1016/j.bbrc.2012.06.007. Epub 2012 Jun 10.
2012
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| 12 | SLC6A5, SLC6A9
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| An aspartate residue in the external vestibule of GLYT2 (glycine transporter 2) controls cation access and transport coupling.
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| Pérez-Siles G, Núñez E, Morreale A, Jiménez E, Leo-Macías A, Pita G, Cherubino F, Sangaletti R, Bossi E, Ortíz AR, Aragón C, López-Corcuera B.
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| Biochem J 442(2):323-34. doi: 10.1042/BJ20110247.
2012
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| 13 | PRKCA, SLC6A5
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| Endocytosis of the neuronal glycine transporter GLYT2: role of membrane rafts and protein kinase C-dependent ubiquitination.
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| de Juan-Sanz J, Zafra F, López-Corcuera B, Aragón C.
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| Traffic 12(12):1850-67. doi: 10.1111/j.1600-0854.2011.01278.x. Epub 2011 Oct 9.
2011
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| 14 | SLC6A5, SLC6A9
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| Molecular basis of the differential interaction with lithium of glycine transporters GLYT1 and GLYT2.
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| Pérez-Siles G, Morreale A, Leo-Macías A, Pita G, Ortíz AR, Aragón C, López-Corcuera B.
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| J Neurochem 118(2):195-204. doi: 10.1111/j.1471-4159.2011.07309.x. Epub 2011 Jun 2.
2011
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| 15 | SLC6A5
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| Development of synaptic inhibition in glycine transporter 2 deficient mice.
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| Latal AT, Kremer T, Gomeza J, Eulenburg V, Hülsmann S.
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| Mol Cell Neurosci 44(4):342-52. doi: 10.1016/j.mcn.2010.04.005. Epub 2010 May 4.
2010
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| 16 | SLC6A5
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| GlyT-2 mediates the forskolin-induced increase of glycinergic transmission.
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| Nakamura M, Jang IS.
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| Neuroreport 21(6):463-8. doi: 10.1097/WNR.0b013e3283390476.
2010
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| 17 | SLC6A5
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| Extracellular loops 2 and 4 of GLYT2 are required for N-arachidonylglycine inhibition of glycine transport.
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| Edington AR, McKinzie AA, Reynolds AJ, Kassiou M, Ryan RM, Vandenberg RJ.
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| J Biol Chem 284(52):36424-30. doi: 10.1074/jbc.M109.017509. Epub 2009 Oct 29.
2009
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| 18 | SLC6A5
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| Subcellular localization of the neuronal glycine transporter GLYT2 in brainstem.
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| Núñez E, Pérez-Siles G, Rodenstein L, Alonso-Torres P, Zafra F, Jiménez E, Aragón C, López-Corcuera B.
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| Traffic 10(7):829-43. doi: 10.1111/j.1600-0854.2009.00911.x. Epub 2009 Mar 17.
2009
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| 19 | GLRA1, GLRB, GPHN, SLC6A5, STHE1, STHE2, STHE3, STHE4
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| The genetics of hyperekplexia: more than startle!
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| Harvey RJ, Topf M, Harvey K, Rees MI.
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| Trends Genet 24(9):439-47. Epub 2008 Aug 15.
2008
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| 20 | SLC6A5
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| Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia.
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| Deng X, Sagata N, Takeuchi N, Tanaka M, Ninomiya H, Iwata N, Ozaki N, Shibata H, Fukumaki Y.
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| BMC Psychiatry 8:58.PMID: 18638388 2008
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| 21 | SLC6A5, SLC6A9
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| Glycine transporters (glycine transporter 1 and glycine transporter 2) are expressed in retina.
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| Peña-Rangel MT, Riesgo-Escovar JR, Sánchez-Chávez G, Salceda R.
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| Neuroreport 19(13):1295-9.PMID: 18695510 2008
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| 22 | SLC6A5
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| Trafficking properties and activity regulation of the neuronal glycine transporter GLYT2 by protein kinase C.
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| Fornés A, Núñez E, Alonso-Torres P, Aragón C, López-Corcuera B.
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| Biochem J 412(3):495-506.PMID: 18341477 2008
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| 23 | SLC6A5, SLC6A9
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| Mapping of glutathione and its precursor amino acids reveals a role for GLYT2 in glycine uptake in the lens core.
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| Lim J, Li L, Jacobs MD, Kistler J, Donaldson PJ.
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| Invest Ophthalmol Vis Sci 48(11):5142-51. 2007
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| 24 | SLC6A5
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| The C-terminal PDZ-ligand motif of the neuronal glycine transporter GlyT2 is required for efficient synaptic localization.
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| Armsen W, Himmel B, Betz H, Eulenburg V.
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| Mol Cell Neurosci 36(3):369-80. Epub 2007 Aug 1.PMID: 17851090 2007
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| 25 | SLC6A5, STHE3
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| Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
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| Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ.
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| Nat Genet 38(7):801-806. Epub 2006 Jun 4. 2006
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| 26 | SLC6A5
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| Calcium- and syntaxin 1-mediated trafficking of the neuronal glycine transporter GLYT2.
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| Geerlings A, Nunez E, Lopez-Corcuera B, Aragon C.
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| J Biol Chem 276(20):17584-90. 2001
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| 27 | SLC6A5, SLC6A9
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| Regulation of glycine transporters.
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| López-Corcuera B, Aragón C, Geerlings A.
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| Biochem Soc Trans 29(Pt 6):742-5. Review.PMID: 11709067 2001
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| 28 | SLC6A5
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| Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome.
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| Morrow JA, et al.
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| FEBS Lett 439 : 334-340. 1998
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