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Group by: Item Type | Date | No Grouping
2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002
Number of items: 37.

2012

Patrizi, A., Viltono, L., Frola, E., Harvey, K., Harvey, R.J. and Sassoè-Pognetto, M. (2012) Selective localization of collybistin at a subset of inhibitory synapses in brain circuits. Journal of Comparative Neurology, 520 (1). pp. 130-141. 10.1002/cne.22702.

Stephenson, J.B.P., Harvey, K., Harvey, R.J. and Rees, M.I. (2012) Hyperekplexia: a glycinergic disorder. In: Channelopathies of the nervous system in childhood. MacKeith Press. (In Press)

2011

Tretter, V., Kerschner, B., Milenkovic, I., Ramsden, S.L., Ramerstorfer, J., Saiepour, L., Maric, H-M., Moss, S.J., Schindelin, H., Harvey, R.J., Sieghart, W. and Harvey, K. (2011) Molecular basis of the GABAA receptor {alpha}3 subunit interaction with gephyrin. Journal of Biological Chemistry . 10.1074/jbc.M111.291336 .

Berwick, D.C. and Harvey, K. (2011) LRRK2 signaling pathways: the key to unlocking neurodegeneration? Trends in Cell Biology . 10.1016/j.tcb.2011.01.001.

Tyagarajan, S.K., Ghosh, H., Harvey, K. and Fritschy, J-M. (2011) Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses. Journal of Cell Science, 124 (16). pp. 2786-2796. 10.1242/jcs.086199.

Chiou, T-T., Bonhomme, B., Jin, H., Miralles, C.P., Xiao, H., Fu, Z., Harvey, R.J., Harvey, K., Vicini, S. and De Blas, A.L. (2011) Differential regulation of the postsynaptic clustering of γ-aminobutyric acid type A (GABAA) receptors by collybistin isoforms. Journal of Biological Chemistry, 286 (25). pp. 22456-22468. 10.1074/jbc.M111.236190.

Patrizi, A., Viltono, L., Frola, E., Harvey, K., Harvey, R.J. and Sassoè-Pognetto, M. (2011) Selective localization of collybistin at a subset of inhibitory synapses in brain circuits. Journal of Comparative Neurology . 10.1002/cne.22702.

Kriebel, M., Metzger, J., Trinks, S., Chugh, D., Harvey, R.J., Harvey, K. and Volkmer, H. (2011) The cell adhesion molecule neurofascin stabilizes axo-axonic GABAergic terminals at the axon initial segment. Journal of Biological Chemistry, 286 (27). pp. 24385-24393. 10.1074/jbc.M110.212191 .

2010

Kumar, R.A., Pilz, D.T., Babatz, T.D., Cushion, T.D., Harvey, K., Topf, M., Yates, L., Robb, S., Uyanik, G., Mancini, G.M.S., Rees, M.I., Harvey, R.J. and Dobyns, W.B. (2010) TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human Molecular Genetics, 19 (14). pp. 2817-2827. 10.1093/hmg/ddq182 .

Davies, J.S., Chung, S-K., Thomas, R.H., Robinson, A., Hammond, C.L., Mullins, J.G., Carta, E., Pearce, B.R., Harvey, K., Harvey, R.J. and Rees, M.I. (2010) The glycinergic system in human startle disease: a genetic screening approach. Frontiers in Molecular Neuroscience, 3 . p. 8. 10.3389/fnmol.2010.00008.

Melzer, N., Villman, C., Becker, K., Harvey, K., Harvey, R.J., Vogel, N., Kluck, C.J., Kneussel, M. and Becker, C.M. (2010) Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting. Journal of Biological Chemistry, 285 (6). pp. 3730-3739. 10.1074/jbc.M109.030460 .

Tretter, V., Kerschner, B., Ramsden, S., Saiepour, L., Harvey, R.J., Moss, S.J., Sieghart, W. and Harvey, K. (2010) Characterization of the binding site between the GABAA receptor3 subunit and gephyrin. In: 7th Forum of European Neuroscience Meeting, 3-7 July 2010, Amsterdam.

Saiepour, L., Fuchs, C., Patrizi, A., Sassoe-Pognetto, M., Harvey, R.J. and Harvey, K. (2010) Complex Role of Collybistin and Gephyrin in GABAA Receptor Clustering. Journal of Biological Chemistry, 285 (38). pp. 29623-29631. 10.1074/jbc.M110.121368.

Daniëls, V., Vancraenenbroeck, R., Law, B.M.H., Greggio, E., Lobbestael, E., Gao, F., De Maeyer, M., Cookson, M.R., Harvey, K., Baekelandt, V. and Taymans, J-M. (2010) Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant. Journal of Neurochemistry, 116 (2). pp. 304-315. 10.1111/j.1471-4159.2010.07105.x.

Daniëls, V., Vancraenenbroeck, R., Law, B.M.H., Greggio, E., Lobbestael, E., Gao, F., De Maeyer, M., Cookson, M.R., Harvey, K., Baekelandt, V. and Taymans, J-M. (2010) Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant. Journal of Neurochemistry, 116 (2). pp. 304-315. 10.1111/j.1471-4159.2010.07105.x.

Chung, S-K., Vanbellinghen, J-F., Mullins, J.G., Robinson, A., Hantke, J., Hammond, C.L., Gilbert, D.F., Freilinger, M., Ryan, M., Kruer, M.C., Masri, A., Gurses, C., Ferrie, C., Harvey, K., Shiang, R., Christodoulou, J., Andermann, F., Andermann, E., Thomas, R.H., Harvey, R.J., Lynch, J.W. and Rees, M.I. (2010) Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. Journal of Neuroscience, 30 (28). pp. 9612-9620. 10.1523/JNEUROSCI.1763-10.2010.

2009

Poulopoulos, A., Aramuni, G., Meyer, G., Soykan, T., Hoon, M., Papadopoulos, T., Zhang, M., Paarmann, I., Fuchs, C., Harvey, K., Jedlicka, P., Schwarzacher, S.W., Betz, H., Harvey, R.J., Brose, N., Zhang, W. and Varoqueaux, F. (2009) Neuroligin 2 drives postsynaptic assembly at perisomatic inhibitory synapses through gephyrin and collybistin. Neuron, 63 (5). pp. 628-642. 10.1016/j.neuron.2009.08.023.

Sancho, R.M., Law, B.M.H. and Harvey, K. (2009) Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways. Human Molecular Genetics, 18 (20). pp. 3955-3568. 10.1093/hmg/ddp337.

Kalscheuer, V.M., Musante, L., Fang, C., Hoffmann, K., Fuchs, C., Carta, E., Deas, E., Venkateswarlu, K., Menzel, C., Ullmann, R., Tommerup, N., Dalpra, L., Tzschach, A., Selicorni, A., Luescher, B., Ropers, H.H., Harvey, K. and Harvey, R.J. (2009) A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression and mental retardation. Human Mutation, 30 (1). pp. 61-68. 10.1002/humu.20814.

2008

Harvey, R.J., Topf, M., Harvey, K. and Rees, M.I. (2008) The genetics of hyperekplexia: more than startle! Trends in Genetics, 24 (9). pp. 439-447. 10.1016/j.tig.2008.06.005.

Charlier, C., Coppieters, W., Rollin, F., Desmecht, D., Agerholm, J.S., Cambisano, N., Carta, E., Dardano, S., Dive, M., Fasquelle, C., Frennet, J-C., Hanset, R., Hubin, X., Jorgensen, C., Karim, L., Kent, M., Harvey, K., Pearce, B.R., Simon, P., Tama, N., Nie, H., Vandeputte, S., Lien, S., Longeri, M., Fredholm, M., Harvey, R.J. and Georges, M. (2008) Highly effective SNP-based association mapping and management of recessive defects in livestock. Nature Genetics, 40 . pp. 449-454. 10.1038/ng.96.

Harvey, R.J., Carta, E., Pearce, B.R., Chung, S-K., Supplisson, S., Rees, M.I. and Harvey, K. (2008) A critical role for glycine transporters in hyperexcitability disorders. Frontiers in Molecular Neuroscience, 1 (1). 10.3389/neuro.02.001.2008.

2007

Plun-Favreau, H., Klupsch, K., Moisoi, N., Gandhi, S., Kjaer, S., Frith, D., Harvey, K., Deas, E., Harvey, R.J., McDonald, N., Wood, N.W., Martins, L.M. and Downward, J. (2007) The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nature Cell Biology, 9 (11). pp. 1243-1252. 10.1038/ncb1644.

Papadopoulos, T., Korte, M., Eulenburg, V., Kubota, H., Retiounskaia, M., Harvey, R.J., Harvey, K., O'Sullivan, G.A., Laube, B., Hulsmann, S., Geiger, J.R. and Betz, H. (2007) Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice. EMBO Journal, 26 (17). pp. 3888-3899. 10.1038/sj.emboj.7601819.

2006

Abou-Sleiman, P.M., Muqit, M.M.K., McDonald, N.Q., Gandhi, S., Healy, D.G., Harvey, K., Harvey, R.J., Bhatia, K., Quinn, N., Lees, A.J., Latchman, D.S. and Wood, N.W. (2006) A heterozygous effect for PINK1 mutations in Parkinson's disease; low frequency low penetrance? Annals of Neurology, 60 (4). pp. 414-419. 10.1002/ana.20960.

Rees, M.I., Harvey, K., Chung, S-K., Duguid, I.C., Thomas, P., Beatty, S., Graham, G., Armstrong, L., Shiang, R., Abbott, K.J., Zuberi, S., Stephenson, S., Owen, M.J., Tijssen, M.A.J., van den Maagdenberg, A.M.J.M., Smart, T.G., Supplisson, S. and Harvey, R.J. (2006) Mutations in the human GlyT2 gene define a presynaptic component of human startle disease. Nature Genetics, 38 . pp. 801-806. 10.1038/ng1814.

Muqit, M.M.K., Abou-Sleiman, P.M., Saurin, A.T., Harvey, K., Gandhi, S., Deas, E., Eaton, S., Payne Smith, M.D., Venner, K., Matilla, A., Healy, D.G., Gilks, W.P., Lees, A.J., Holton, J., Revesz, T., Parker, P.J., Harvey, R.J., Wood, N.W. and Latchman, D.S. (2006) Altered cleavage and localisation of PINK1 to aggresomes in the presence of proteasomal stress. Journal of Neurochemistry, 98 . pp. 156-159. 10.1111/j.1471-4159.2006.03845.x.

Greggio, E., Jain, S., Kingsbury, A.E., Bandopadhyay, R., Kaganovich, A., Lewis, P., van der Brug, M.P., Beilina, A., Blackinton, J., Thomas, K.J., Ahmad, R., Miller, D.W., Lees, A., Harvey, R.J., Harvey, K. and Cookson, M.R. (2006) Kinase activity is required for dominant effects of mutant dardarin. Neurobiology of Disease, 23 . pp. 329-341. 10.1016/j.nbd.2006.04.001 .

Rees, M.I., Harvey, K., Pearce, B.R., Chung, S-K., Duguid, I.C., Thomas, P., Beatty, S., Graham, G.E., Armstrong, L., Shiang, R., Abbott, K.J., Zuberi, S.M., Stephenson, J.B.P., Owen, M.J., Tijssen, M.A.J., van den Maagdenberg, A.M.J.M., Smart, T.G., Supplisson, S. and Harvey, R.J. (2006) Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics, 38 (7). pp. 801-806. 10.1038/ng1814.

2005

Bandopadhyay, R., Kingsbury, A.E., Muqit, M.M.K., Harvey, K., Reid, A.R., Engelender, S., Schlossmacher, M.G., Wood, N.W., Latchman, D.S., Harvey, R.J. and Lees, A.J. (2005) Synphilin-1 and Parkin show overlapping distribution patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiology of Disease, 20 . pp. 401-411. 10.1016/j.nbd.2005.03.021.

2004

Harvey, K., Duguid, I.C., Alldred, M.J., Beatty, S.E., Ward, H., Keep, N.H., Lingenfelter, S.E., Pearce, B.R., Lundgren, J., Owen, M.J., Smart, T.G., Luscher, B., Rees, M.I. and Harvey, R.J. (2004) The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. Journal of Neuroscience, 24 (25). pp. 5816-5826. 10.1523/JNEUROSCI.1184-04.2004.

Gaitatzis, A., Kartsounis, L.D., Gacinovic, S., Costa, D.C., Harvey, K., Harvey, R.J. and Silva, R.N. (2004) Frontal lobe dysfunction in sporadic hyperekplexia - case study and literature review. Journal of Neurology, 251 . pp. 91-98. 10.1007/s00415-004-0288-4.

Harvey, R.J., Depner, U.B., Wassle, H., Ahmadi, S., Heindl, C., Reinold, H., Smart, T.G., Harvey, K., Schutz, B., Abo-Salem, O.M., Zimmer, A., Poisbeau, P., Welzl, H., Wolfer, D.P., Betz, H., Zeilhofer, H.U. and Muller, U. (2004) GlyR alpha3:an essential target for spinal PGE2-mediated inflammatory pain sensitization. Science, 304 . pp. 884-887. 10.1126/science.1094925.

Valente, E.M., Abou-Sleiman, P.M., Caputo, V., Muqit, M.M.K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A.R., Healy, D.G., Albanese, A., Nussbaum, R., Gonzalez-Maldonado, R., Deller, T., Salvi, S., Cortelli, P., Gilks, W.P., Latchman, D.S., Harvey, R.J., Dallapiccola, B., Auburger, G. and Wood, N.W. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 304 . 1158 -1160. 10.1126/science.1096284.

2003

Haverkamp, S., Muller, U., Harvey, K., Harvey, R.J., Betz, H. and Wassle, H. (2003) Diversity of glycine receptors in the mouse retina: localization of the alpha3 subunit. Journal of Comparative Neurology, 465 (4). pp. 524-539. 10.1002/cne.10852.

Rees, M.I., Harvey, K., Ward, H., White, J.H., Evans, L., Duguid, I.C., Hsu, C.C., Coleman, S.L., Miller, J., Baer, K., Waldvogel, H.J., Gibbon, F., Smart, T.G., Owen, M.J., Harvey, R.J. and Snell, R.G. (2003) Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor and mutation analysis in hyperekplexia. Journal of Biological Chemistry, 278 . pp. 24688-24696. 10.1074/jbc.M301070200.

2002

Dunne, E.L., Hosie, A.M., Wooltorton, J.R.A., Duguid, I.C., Harvey, K., Moss, S.J., Harvey, R.J. and Smart, T.G. (2002) N-terminal histidine regulates zinc inhibition on the murine GABA-A receptor beta3 subunit. British Journal of Pharmacology, 137 . pp. 29-38. 10.1038/sj.bjp.0704835.

This list was generated on Sun Sep 14 16:48:06 2014 BST.