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Items: 1 to 20 of 109

1.

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

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.

J Biol Chem. 2012 Aug 17;287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29.

2.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

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.

J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.

3.

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.

Arribas-González E, de Juan-Sanz J, Aragón C, López-Corcuera B.

J Biol Chem. 2015 Jan 23;290(4):2150-65. doi: 10.1074/jbc.M114.587055. Epub 2014 Dec 5.

4.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

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.

Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4.

5.

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.

James VM, Gill JL, Topf M, Harvey RJ.

Biol Chem. 2012 Apr;393(4):283-9. doi: 10.1515/bc-2011-232. Review.

PMID:
22114948
6.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.

J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010.

7.

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.

Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Erratum in: Hum Mol Genet. 2013 Jun 15;22(12):2552. Longhardt, Ann-Carolyn [corrected to Longardt, Ann-Carolyn].

PMID:
23184146
8.

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H.

Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26.

PMID:
16884688
9.

The glycinergic system in human startle disease: a genetic screening approach.

Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI.

Front Mol Neurosci. 2010 Mar 23;3:8. doi: 10.3389/fnmol.2010.00008. eCollection 2010.

10.

[Molecular bases of hereditary hyperekplexia].

Giménez C, Zafra F, López-Corcuera B, Aragón C.

Rev Neurol. 2008 Dec 16-31;47(12):648-52. Review. Spanish.

11.

A critical role for glycine transporters in hyperexcitability disorders.

Harvey RJ, Carta E, Pearce BR, Chung SK, Supplisson S, Rees MI, Harvey K.

Front Mol Neurosci. 2008 Mar 28;1:1. doi: 10.3389/neuro.02.001.2008. eCollection 2008.

12.

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.

Gill JL, Capper D, Vanbellinghen JF, Chung SK, Higgins RJ, Rees MI, Shelton GD, Harvey RJ.

Neurobiol Dis. 2011 Jul;43(1):184-9. doi: 10.1016/j.nbd.2011.03.010. Epub 2011 Mar 17.

13.

Presynaptic control of glycine transporter 2 (GlyT2) by physical and functional association with plasma membrane Ca2+-ATPase (PMCA) and Na+-Ca2+ exchanger (NCX).

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.

J Biol Chem. 2014 Dec 5;289(49):34308-24. doi: 10.1074/jbc.M114.586966. Epub 2014 Oct 14.

14.

The genetics of hyperekplexia: more than startle!

Harvey RJ, Topf M, Harvey K, Rees MI.

Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Review.

PMID:
18707791
15.

Na+/K+-ATPase is a new interacting partner for the neuronal glycine transporter GlyT2 that downregulates its expression in vitro and in vivo.

de Juan-Sanz J, Núñez E, Villarejo-López L, Pérez-Hernández D, Rodriguez-Fraticelli AE, López-Corcuera B, Vázquez J, Aragón C.

J Neurosci. 2013 Aug 28;33(35):14269-81. doi: 10.1523/JNEUROSCI.1532-13.2013.

16.

Glycine transporters: essential regulators of synaptic transmission.

Betz H, Gomeza J, Armsen W, Scholze P, Eulenburg V.

Biochem Soc Trans. 2006 Feb;34(Pt 1):55-8. Review.

PMID:
16417482
17.

Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).

Arribas-González E, Alonso-Torres P, Aragón C, López-Corcuera B.

PLoS One. 2013 May 1;8(5):e63230. doi: 10.1371/journal.pone.0063230. Print 2013.

18.

The neuronal glycine transporter 2 interacts with the PDZ domain protein syntenin-1.

Ohno K, Koroll M, El Far O, Scholze P, Gomeza J, Betz H.

Mol Cell Neurosci. 2004 Aug;26(4):518-29.

PMID:
15276154
19.

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA.

Pediatr Neurol. 2012 Feb;46(2):89-93. doi: 10.1016/j.pediatrneurol.2011.11.008.

PMID:
22264702
20.

The glycine transporter GlyT2 controls the dynamics of synaptic vesicle refilling in inhibitory spinal cord neurons.

Rousseau F, Aubrey KR, Supplisson S.

J Neurosci. 2008 Sep 24;28(39):9755-68. doi: 10.1523/JNEUROSCI.0509-08.2008.

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