Works matching AU Harvey, Kirsten

Results: 50
    1

    Lysosomal TPC2 channels disrupt Ca<sup>2+</sup> entry and dopaminergic function in models of LRRK2-Parkinson's disease.

    Published in:
    Journal of Cell Biology, 2025, v. 224, n. 6, p. 1, doi. 10.1083/jcb.202412055
    By:
    • Gregori, Martina;
    • Pereira, Gustavo J. S.;
    • Allen, Robert;
    • West, Nicholas;
    • Kai-Yin Chau;
    • Xinjiang Cai;
    • Bostock, Matthew P.;
    • Bolsover, Stephen R.;
    • Keller, Marco;
    • Chiao-Yin Lee;
    • Si Hang Lei;
    • Harvey, Kirsten;
    • Bracher, Franz;
    • Grimm, Christian;
    • Hasan, Gaiti;
    • Gegg, Matthew E.;
    • Schapira, Anthony H. V.;
    • Sweeney, Sean T.;
    • Patel, Sandip
    Publication type:
    Article
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    A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

    Published in:
    Human Mutation, 2009, v. 30, n. 1, p. 61, doi. 10.1002/humu.20814
    By:
    • Kalscheuer, Vera M.;
    • Musante, Luciana;
    • Fang, Cheng;
    • Hoffmann, Kirsten;
    • Fuchs, Celine;
    • Carta, Eloisa;
    • Deas, Emma;
    • Venkateswarlu, Kanamarlapudi;
    • Menzel, Corinna;
    • Ullmann, Reinhard;
    • Tommerup, Niels;
    • Dalprà, Leda;
    • Tzschach, Andreas;
    • Selicorni, Angelo;
    • Lüscher, Bernhard;
    • Ropers, Hans-Hilger;
    • Harvey, Kirsten;
    • Harvey, Robert J.
    Publication type:
    Article
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    Highly effective SNP-based association mapping and management of recessive defects in livestock.

    Published in:
    Nature Genetics, 2008, v. 40, n. 4, p. 449, doi. 10.1038/ng.96
    By:
    • Charlier, Carole;
    • Coppieters, Wouter;
    • Rollin, Frédéric;
    • Desmecht, Daniel;
    • Agerholm, Jorgen S.;
    • Cambisano, Nadine;
    • Carta, Eloisa;
    • Dardano, Sabrina;
    • Dive, Marc;
    • Fasquelle, Corinne;
    • Frennet, Jean-Claude;
    • Hanset, Roger;
    • Hubin, Xavier;
    • Jorgensen, Claus;
    • Karim, Latifa;
    • Kent, Matthew;
    • Harvey, Kirsten;
    • Pearce, Brian R.;
    • Simon, Patricia;
    • Tama, Nico
    Publication type:
    Article
    8

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

    Published in:
    Nature Genetics, 2006, v. 38, n. 7, p. 801, doi. 10.1038/ng1814
    By:
    • Rees, Mark I.;
    • Harvey, Kirsten;
    • Pearce, Brian R.;
    • Seo-Kyung Chung;
    • Duguid, Ian C.;
    • Thomas, Philip;
    • Beatty, Sarah;
    • Graham, Gail E.;
    • Armstrong, Linlea;
    • Shiang, Rita;
    • Abbott, Kim J.;
    • Zuberi, Sameer M.;
    • Stephenson, John B. P.;
    • Owen, Michael J.;
    • Tijssen, Marina A. J.;
    • van den Maagdenberg, Arn M. J. M.;
    • Smart, Trevor G.;
    • Supplisson, Stéphane;
    • Harvey, Robert J.
    Publication type:
    Article
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    A heterozygous effect for PINK1 mutations in Parkinson's disease?

    Published in:
    Annals of Neurology, 2006, v. 60, n. 4, p. 414
    By:
    • Patrick M. Abou‐Sleiman;
    • Miratul M. K. Muqit;
    • Neil Q. McDonald;
    • Yan Xiang Yang;
    • Sonia Gandhi;
    • Daniel G. Healy;
    • Kirsten Harvey;
    • Robert J. Harvey;
    • Emma Deas;
    • Kailash Bhatia;
    • Niall Quinn;
    • Andrew Lees;
    • David S. Latchman;
    • Nicholas W. Wood
    Publication type:
    Article
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    Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress.

    Published in:
    Journal of Neurochemistry, 2006, v. 98, n. 1, p. 156, doi. 10.1111/j.1471-4159.2006.03845.x
    By:
    • Muqit, Miratul M. K.;
    • Abou-Sleiman, Patrick M.;
    • Saurin, Adrian T.;
    • Harvey, Kirsten;
    • Gandhi, Sonia;
    • Deas, Emma;
    • Eaton, Simon;
    • Smith, Martin D. Payne;
    • Venner, Kerrie;
    • Matilla, Antoni;
    • Healy, Daniel G.;
    • Gilks, William P.;
    • Lees, Andrew J.;
    • Holton, Janice;
    • Revesz, Tamas;
    • Parker, Peter J.;
    • Harvey, Robert J.;
    • Wood, Nicholas W.;
    • Latchman, David S.
    Publication type:
    Article
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    Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant.

    Published in:
    Journal of Neurochemistry, 2011, v. 116, n. 2, p. 304, doi. 10.1111/j.1471-4159.2010.07105.x
    By:
    • Daniëls, Veronique;
    • Vancraenenbroeck, Renée;
    • Law, Bernard M. H.;
    • Greggio, Elisa;
    • Lobbestael, Evy;
    • Gao, Fangye;
    • De Maeyer, Marc;
    • Cookson, Mark R.;
    • Harvey, Kirsten;
    • Baekelandt, Veerle;
    • Taymans, Jean-Marc
    Publication type:
    Article
    32

    Correction: Mutations in LRRK2 linked to Parkinson disease sequester Rab8a to damaged lysosomes and regulate transferrin-mediated iron uptake in microglia.

    Published in:
    2022
    By:
    • Mamais, Adamantios;
    • Kluss, Jillian H.;
    • Bonet-Ponce, Luis;
    • Landeck, Natalie;
    • Langston, Rebekah G.;
    • Smith, Nathan;
    • Beilina, Alexandra;
    • Kaganovich, Alice;
    • Ghosh, Manik C.;
    • Pellegrini, Laura;
    • Kumaran, Ravindran;
    • Papazoglou, Ioannis;
    • Heaton, George R.;
    • Harvey, Kirsten;
    • Bandopadhyay, Rina;
    • Maio, Nunziata;
    • Kim, Changyoun;
    • LaVoie, Matthew J.;
    • Gershlick, David C.;
    • Cookson, Mark R.
    Publication type:
    Correction Notice
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    Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43820-4
    By:
    • Granno, Simone;
    • Nixon-Abell, Jonathon;
    • Berwick, Daniel C.;
    • Tosh, Justin;
    • Heaton, George;
    • Almudimeegh, Sultan;
    • Nagda, Zenisha;
    • Rain, Jean-Christophe;
    • Zanda, Manuela;
    • Plagnol, Vincent;
    • Tybulewicz, Victor L. J.;
    • Cleverley, Karen;
    • Wiseman, Frances K.;
    • Fisher, Elizabeth M. C.;
    • Harvey, Kirsten
    Publication type:
    Article
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    The role of LRRK2 in cell signalling.

    Published in:
    Biochemical Society Transactions, 2019, v. 47, n. 1, p. 197, doi. 10.1042/BST20180464
    By:
    • Harvey, Kirsten;
    • Outeiro, Tiago F.
    Publication type:
    Article
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    Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia.

    Published in:
    Journal of Neuroscience, 2010, v. 30, n. 28, p. 9612, doi. 10.1523/JNEUROSCI.1763-10.2010
    By:
    • Seo-Kyung Chung;
    • Vanbellinghen, Jean-François;
    • Mullins, Jonathan G. L.;
    • Robinson, Angela;
    • Hantke, Janina;
    • Hammond, Carrie L.;
    • Gilbert, Daniel F.;
    • Freilinger, Michael;
    • Ryan, Monique;
    • Kruer, Michael C.;
    • Masri, Amira;
    • Gurses, Candan;
    • Ferrie, Colin;
    • Harvey, Kirsten;
    • Shiang, Rita;
    • Christodoulou, John;
    • Andermann, Frederick;
    • Andermann, Eva;
    • Thomas, Rhys H.;
    • Harvey, Robert J.
    Publication type:
    Article
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