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Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Mark I Rees, Kirsten Harvey, Brian R Pearce, Seo-Kyung Chung, Ian C Duguid, Philip Thomas, Sarah Beatty, Gail E Graham, Linlea Armstrong, Rita Shiang, Kim J Abbott, Sameer M Zuberi, John B P Stephenson, Michael J Owen, Marina A J Tijssen, Arn M J M van den Maagdenberg, Trevor G Smart, Stéphane Supplisson, Robert J Harvey. Nat Genet 2006
Times Cited: 161






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List of co-cited articles
826 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.
Eloisa Carta, Seo-Kyung Chung, Victoria M James, Angela Robinson, Jennifer L Gill, Nathalie Remy, Jean-François Vanbellinghen, Cheney J G Drew, Sophie Cagdas, Duncan Cameron,[...]. J Biol Chem 2012
59
40
67

The genetics of hyperekplexia: more than startle!
Robert J Harvey, Maya Topf, Kirsten Harvey, Mark I Rees. Trends Genet 2008
144
37
37

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.
Jesús Gomeza, Koji Ohno, Swen Hülsmann, Wencke Armsen, Volker Eulenburg, Diethelm W Richter, Bodo Laube, Heinrich Betz. Neuron 2003
233
37
37

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
R Shiang, S G Ryan, Y Z Zhu, A F Hahn, P O'Connell, J J Wasmuth. Nat Genet 1993
396
31
31

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.
Volker Eulenburg, Kristina Becker, Jesús Gomeza, Bernhard Schmitt, Cord-Michael Becker, Heinrich Betz. Biochem Biophys Res Commun 2006
60
31
51

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
Cecilio Giménez, Gonzalo Pérez-Siles, Jaime Martínez-Villarreal, Esther Arribas-González, Esperanza Jiménez, Enrique Núñez, Jaime de Juan-Sanz, Enrique Fernández-Sánchez, Noemí García-Tardón, Ignacio Ibáñez,[...]. J Biol Chem 2012
32
27
84

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
Mark I Rees, Trevor M Lewis, John B J Kwok, Geert R Mortier, Paul Govaert, Russell G Snell, Peter R Schofield, Michael J Owen. Hum Mol Genet 2002
115
26
26

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
Seo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G L Mullins, Angela Robinson, Janina Hantke, Carrie L Hammond, Daniel F Gilbert, Michael Freilinger, Monique Ryan, Michael C Kruer,[...]. J Neurosci 2010
99
25
25

Inactivation of the glycine transporter 1 gene discloses vital role of glial glycine uptake in glycinergic inhibition.
Jesús Gomeza, Swen Hülsmann, Koji Ohno, Volker Eulenburg, Katalin Szöke, Diethelm Richter, Heinrich Betz. Neuron 2003
238
25
25

The glycine transporter GlyT2 controls the dynamics of synaptic vesicle refilling in inhibitory spinal cord neurons.
France Rousseau, Karin R Aubrey, Stéphane Supplisson. J Neurosci 2008
70
20
28

Molecular structure and function of the glycine receptor chloride channel.
Joseph W Lynch. Physiol Rev 2004
557
18
18

Startle syndromes.
Mirte J Bakker, J Gert van Dijk, Arn M J M van den Maagdenberg, Marina A J Tijssen. Lancet Neurol 2006
167
18
18

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
Kirsten Harvey, Ian C Duguid, Melissa J Alldred, Sarah E Beatty, Hamish Ward, Nicholas H Keep, Sue E Lingenfelter, Brian R Pearce, Johan Lundgren, Michael J Owen,[...]. J Neurosci 2004
193
18
18

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
Mark I Rees, Kirsten Harvey, Hamish Ward, Julia H White, Luc Evans, Ian C Duguid, Cynthia C-H Hsu, Sharon L Coleman, Jan Miller, Kristin Baer,[...]. J Biol Chem 2003
87
17
19

Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters.
Atsuko Yamashita, Satinder K Singh, Toshimitsu Kawate, Yan Jin, Eric Gouaux. Nature 2005
1252
17
17

Glycine transporters are differentially expressed among CNS cells.
F Zafra, C Aragón, L Olivares, N C Danbolt, C Giménez, J Storm-Mathisen. J Neurosci 1995
428
17
17

GLRB is the third major gene of effect in hyperekplexia.
Seo-Kyung Chung, Anna Bode, Thomas D Cushion, Rhys H Thomas, Charlotte Hunt, Sian-Elin Wood, William O Pickrell, Cheney J G Drew, Sumimasa Yamashita, Rita Shiang,[...]. Hum Mol Genet 2013
39
17
43

The beta subunit determines the ligand binding properties of synaptic glycine receptors.
Joanna Grudzinska, Rudolf Schemm, Svenja Haeger, Annette Nicke, Guenther Schmalzing, Heinrich Betz, Bodo Laube. Neuron 2005
281
16
16

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
Rhys H Thomas, Seo-Kyung Chung, Sian E Wood, Thomas D Cushion, Cheney J G Drew, Carrie L Hammond, Jean-Francois Vanbellinghen, Jonathan G L Mullins, Mark I Rees. Brain 2013
51
16
31

Glycine transporters as novel therapeutic targets in schizophrenia, alcohol dependence and pain.
Robert J Harvey, Benjamin K Yee. Nat Rev Drug Discov 2013
125
16
16

The glycinergic system in human startle disease: a genetic screening approach.
Jeff S Davies, Seo-Kyung Chung, Rhys H Thomas, Angela Robinson, Carrie L Hammond, Jonathan G L Mullins, Eloisa Carta, Brian R Pearce, Kirsten Harvey, Robert J Harvey,[...]. Front Mol Neurosci 2010
43
15
34

Neuronal and glial glycine transporters have different stoichiometries.
M J Roux, S Supplisson. Neuron 2000
219
15
15

Glycine transporters: essential regulators of neurotransmission.
Volker Eulenburg, Wencke Armsen, Heinrich Betz, Jesús Gomeza. Trends Biochem Sci 2005
245
15
15

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.
Victoria M James, Anna Bode, Seo-Kyung Chung, Jennifer L Gill, Maartje Nielsen, Frances M Cowan, Mihailo Vujic, Rhys H Thomas, Mark I Rees, Kirsten Harvey,[...]. Neurobiol Dis 2013
42
15
35

Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.
Esther Arribas-González, Jaime de Juan-Sanz, Carmen Aragón, Beatriz López-Corcuera. J Biol Chem 2015
22
15
68

The impact of human hyperekplexia mutations on glycine receptor structure and function.
Anna Bode, Joseph W Lynch. Mol Brain 2014
83
14
16

Startle disease: an avoidable cause of sudden infant death.
F Vigevano, M Di Capua, B Dalla Bernardina. Lancet 1989
73
13
17

Novel mutation in GLRB in a large family with hereditary hyperekplexia.
M Al-Owain, D Colak, A Al-Bakheet, N Al-Hashmi, T Shuaib, A Al-Hemidan, H Aldhalaan, Z Rahbeeni, M Al-Sayed, B Al-Younes,[...]. Clin Genet 2012
28
13
46

Glycine transporter inhibitors as a novel drug discovery strategy for neuropathic pain.
Toshihiro Dohi, Katsuya Morita, Tomoya Kitayama, Naoyo Motoyama, Norimitsu Morioka. Pharmacol Ther 2009
80
13
16

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.
Jennifer L Gill, Deborah Capper, Jean-François Vanbellinghen, Seo-Kyung Chung, Robert J Higgins, Mark I Rees, G Diane Shelton, Robert J Harvey. Neurobiol Dis 2011
31
12
38

Hyperekplexia: a treatable neurogenetic disease.
Lan Zhou, Kipp L Chillag, Michael A Nigro. Brain Dev 2002
78
12
15

GlyR alpha3: an essential target for spinal PGE2-mediated inflammatory pain sensitization.
Robert J Harvey, Ulrike B Depner, Heinz Wässle, Seifollah Ahmadi, Cornelia Heindl, Heiko Reinold, Trevor G Smart, Kirsten Harvey, Burkhard Schütz, Osama M Abo-Salem,[...]. Science 2004
440
12
12

Startle disease or hyperekplexia: further delineation of the syndrome.
F Andermann, D L Keene, E Andermann, L F Quesney. Brain 1980
167
11
11

A critical role for glycine transporters in hyperexcitability disorders.
Robert J Harvey, Eloisa Carta, Brian R Pearce, Seo-Kyung Chung, Stéphane Supplisson, Mark I Rees, Kirsten Harvey. Front Mol Neurosci 2008
29
11
37

Localization of the GLYT1 glycine transporter at glutamatergic synapses in the rat brain.
Beatriz Cubelos, Cecilio Giménez, Francisco Zafra. Cereb Cortex 2005
224
11
11

Endocytosis of the neuronal glycine transporter GLYT2: role of membrane rafts and protein kinase C-dependent ubiquitination.
Jaime de Juan-Sanz, Francisco Zafra, Beatriz López-Corcuera, Carmen Aragón. Traffic 2011
29
11
37

P2Y purinergic regulation of the glycine neurotransmitter transporters.
Esperanza Jiménez, Francisco Zafra, Raquel Pérez-Sen, Esmerilda G Delicado, Maria Teresa Miras-Portugal, Carmen Aragón, Beatriz López-Corcuera. J Biol Chem 2011
36
11
30

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, Yan Li, Santosh R Mordekar, Philip Jardine, Neil V Morgan, Esther Meyer, Louise Tee, Shanaz Pasha,[...]. J Clin Invest 2009
136
11
11

X-ray structure of dopamine transporter elucidates antidepressant mechanism.
Aravind Penmatsa, Kevin H Wang, Eric Gouaux. Nature 2013
399
11
11

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.
M I Rees, M Andrew, S Jawad, M J Owen. Hum Mol Genet 1994
118
10
10

Glycinergic neurons expressing enhanced green fluorescent protein in bacterial artificial chromosome transgenic mice.
Hanns Ulrich Zeilhofer, Barbara Studler, Dimitrula Arabadzisz, Claude Schweizer, Seifollah Ahmadi, Beate Layh, Michael R Bösl, Jean-Marc Fritschy. J Comp Neurol 2005
238
10
10

Native glycine receptor subtypes and their physiological roles.
Joseph W Lynch. Neuropharmacology 2009
256
10
10

Structure, function and regulation of glycine neurotransporters.
Carmen Aragón, Beatriz López-Corcuera. Eur J Pharmacol 2003
104
10
10

Glial glycine transporter 1 function is essential for early postnatal survival but dispensable in adult mice.
Volker Eulenburg, Marina Retiounskaia, Theofilos Papadopoulos, Jesús Gomeza, Heinrich Betz. Glia 2010
35
10
28

The glycinergic inhibitory synapse.
P Legendre. Cell Mol Life Sci 2001
403
10
10

Spinal antiallodynia action of glycine transporter inhibitors in neuropathic pain models in mice.
Katsuya Morita, Naoyo Motoyama, Tomoya Kitayama, Norimitsu Morioka, Koki Kifune, Toshihiro Dohi. J Pharmacol Exp Ther 2008
101
10
10

Subcellular localization of the neuronal glycine transporter GLYT2 in brainstem.
Enrique Núñez, Gonzalo Pérez-Siles, Lara Rodenstein, Pablo Alonso-Torres, Francisco Zafra, Esperanza Jiménez, Carmen Aragón, Beatriz López-Corcuera. Traffic 2009
26
9
34

Glycine transporters: crucial roles of pharmacological interest revealed by gene deletion.
Carmen Aragón, Beatriz López-Corcuera. Trends Pharmacol Sci 2005
91
9
9

Calcium- and syntaxin 1-mediated trafficking of the neuronal glycine transporter GLYT2.
A Geerlings, E Núñez, B López-Corcuera, C Aragón. J Biol Chem 2001
87
9
10

Regional distribution and developmental variation of the glycine transporters GLYT1 and GLYT2 in the rat CNS.
F Zafra, J Gomeza, L Olivares, C Aragón, C Giménez. Eur J Neurosci 1995
230
9
9


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.

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