Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Autor: Mina Ryten, Daniah Trabzuni, J. Ding, Bart Post, Albert Hofman, Jean-Charles Lambert, Olaf Riess, Michele T.M. Hu, Andrew B. Singleton, Stephen Sawcer, X. Huang, Caroline H. Williams-Gray, H. R. Zielke, C Smith, Peter Lichtner, B.P.C. van de Warrenburg, Bernard Ravina, F. Durif, Ellen Sidransky, Mike A. Nalls, Karen E. Morrison, J. R. Gibbs, Robert L. Johnson, Peter Heutink, David J. Burn, Michael Bonin, Sarah Edkins, T. Gasser, Luigi Ferrucci, H. Chau, Sampath Arepalli, Chris C. A. Spencer, Yoav Ben-Shlomo, Honglei Chen, Caroline M. Tanner, Zoltán Bochdanovits, Ruth Chia, Heiko Huber, Kari Stefansson, Dena G. Hernandez, Jean-Marc Taymans, Veerle Baekelandt, Iakov N. Rudenko, Evy Lobbestael, Huw R. Morris, A. Goate, C. Moorby, Lois E. Greene, Manu Sharma, Emma Gray, Ira Shoulson, Janet Brooks, Juan C. Troncoso, K. Shaw, Laura Civiero, Alessandra Biffi, Hans Scheffer, Matthew Moore, Alan B. Zonderman, S. Sveinbjornsdottir, Avazeh Tashakkori-Ghanbaria, Jean-Christophe Corvol, Vincent Plagnol, H. Petursson, Alice Kaganovich, M M Wickremaratchi, Nigel Williams, Thomas Foltynie, Henk W. Berendse, P. Damier, A. Strange, J. M. Cooper, Simon C. Potter, Patricia Limousin, Jiali Gao, Sophie Winder-Rhodes, M. Van Der Brug, Marie Vidailhet, Elisa Greggio, Nicholas W. Wood, Kevin Talbot, M. R. Cookson, Johanna Huttenlocher, J.J. van Hilten, Dan L. Longo, Alisdair McNeill, François Tison, K.D. van Dijk, David N. Hauser, Allissa Dillman, Suneil K. Kalia, Lorraine V. Kalia, Patrick F. Chinnery, Alexis Brice, Kelechi Ndukwe, J. F. Dartigues, M. Gardner, Mohamad Saad, Palmi V. Jonsson, Kailash P. Bhatia, Roger A. Barker, André G. Uitterlinden, Maria Martinez, R. Walker, Elisa Majounie, Fernando Rivadeneira, Joel S. Perlmutter, Panagiotis Deloukas, Bryan J. Traynor, Ese E. Mudanohwo, Grisel Lopez, UM Sheerin, Joanne D. Stockton, Thomas Illig, Andres M. Lozano, Rita Guerreiro, David T. Dexter, Andrew J. Lees, Sean Chong, Gavin Hudson, Cordelia Langford, Günther Deuschl, Ravindran Kumaran, Janice L. Holton, Tamas Revesz, B.R. Bloem, Alexandra Beilina, Clare Elizabeth Harris, Daniela Berg, Anthony H.V. Schapira, Suzanne Lesage, Sean S. O'Sullivan, Albert R. Hollenbeck, James A. Pearson, R. M. A. de Bie, Delia Lorenz, Sarah E. Hunt, Richard O'Brien, Gavin Charlesworth, Maciej B. Olszewski, Stacy Steinberg, Kathrin Brockmann, Carl E Clarke, Patrizia Rizzu, Claudia Schulte, Hreinn Stefansson, Daan C. Velseboer, Omar Gustafsson, Jonathan R. Evans, Alexandra Durr, Javier Simón-Sánchez, Pierre Pollak, H. Z. Munchen, Jose Bras, Carl Counsell, John Hardy

Publikováno v: Proceedings of the National Academy of Sciences, 111(7), 2626-2631
Proceedings of the National Academy of Sciences USA, 111, 2626-31
Proceedings of the National Academy of Sciences of the United States of America, 111(7), 2626-2631. National Academy of Sciences
Proc. Natl. Acad. Sci. U.S.A. 111, 2626-2631 (2014)
Proceedings of the National Academy of Sciences USA, 111, 7, pp. 2626-31

Item does not contain fulltext Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD. Using protein-protein interaction arrays, we identified BCL2-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f039110c8ce3d814891d0913e28b739c
https://doi.org/10.1073/pnas.1318306111

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

Autor: John Hardy, Philip L. Beales, Sanjay M. Sisodiya, Justyna Osinska, Sebahattin Cirak, Julie Williams, Veronica A. Kinsler, Donna S. Mackay, Jane C. Sowden, Gian Paolo Tonini, John Anderson, John C. Achermann, Francesco Lescai, UM Sheerin, David P. Kelsell, Tom Vulliamy, Mike Hubank, Denise Harold, Henry Houlden, Silvia Bonfiglio, Aoife M. Waters, Khalid Hussain, Robert Kleta, Elia Stupka, Estelle Chanudet, Dalia Kasperavičiūtė, Richard D. Williams, Nicholas W. Wood, Chiara Bacchelli, Tony Brooks

Publikováno v: PLoS ONE; Vol 7
PLoS ONE
PLoS ONE, Vol 7, Iss 12, p e51292 (2012)
Lescai, F, Bonfiglio, S, Bacchelli, C, Chanudet, E, Waters, A, Sisodiya, S M, Kasperavičiūtė, D, Williams, J, Harold, D, Hardy, J, Kleta, R, Cirak, S, Williams, A R, Achermann, J C, Anderson, J, Kelsell, D, Vulliamy, T, Houlden, H, Wood, N, Sheerin, U, Tonini, G P, Mackay, D, Hussain, K, Sowden, J, Kinsler, V, Osinska, J, Brooks, T, Hubank, M, Beales, P & Stupka, E 2012, ' Characterisation and validation of insertions and deletions in 173 patient exomes ', P L o S One, vol. 7, no. 12, pp. e51292 . https://doi.org/10.1371/journal.pone.0051292

Recent advances in genomics technologies have spurred unprecedented efforts in genome and exome re-sequencing aiming to unravel the genetic component of rare and complex disorders. While in rare disorders this allowed the identification of novel caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9969b5a192f2db09dca0fa9ae9eac055

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.

Autor: Giri A; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Mok KY; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Jansen I; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany; Department of Clinical Genetics, VU University Medical Center, Amsterdam, the Netherlands., Sharma M; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany., Tesson C; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Mangone G; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Lesage S; Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06, UMR S 1127, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Bras JM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Shulman JM; Departments of Neurology and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sheerin UM; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK., Díez-Fairen M; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain., Pastor P; Movement Disorders Unit, Department of Neurology, Hospital Universitari Mutua de Terrassa, Barcelona, Spain., Martí MJ; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Ezquerra M; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Tolosa E; Movement Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Barcelona, Spain; Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain., Correia-Guedes L; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal., Ferreira J; Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Amin N; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., van Duijn CM; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands., van Rooij J; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Uitterlinden AG; Department of Neurosciences, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Kraaij R; Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands; Department of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands; Netherlands Consortium for Healthy Ageing (NCHA), Rotterdam, the Netherlands., Nalls M; Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA., Simón-Sánchez J; Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address: javier.simon-sanchez@dzne.de.

Publikováno v: Neurobiology of aging [Neurobiol Aging] 2017 Feb; Vol. 50, pp. 167.e11-167.e13. Date of Electronic Publication: 2016 Oct 11.

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.

Autor: Abbas MM; Parkinson's and Ageing Research Foundation Bangalore India., Govindappa ST; Parkinson's and Ageing Research Foundation Bangalore India., Sheerin UM; Department of Molecular Neuroscience UCL Institute of Neurology University College London London United Kingdom., Bhatia KP; UCL Institute of Neurology National Hospital for Neurology and Neurosurgery London United Kingdom., Muthane UB; Parkinson's and Ageing Research Foundation Bangalore India.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2016 Apr 26; Vol. 4 (1), pp. 132-135. Date of Electronic Publication: 2016 Apr 26 (Print Publication: 2017).

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.

Autor: Tsika E; Laboratory of Molecular Neurodegenerative Research., Glauser L; Laboratory of Molecular Neurodegenerative Research., Moser R; Laboratory of Molecular Neurodegenerative Research., Fiser A; Laboratory of Molecular Neurodegenerative Research., Daniel G; Laboratory of Molecular Neurodegenerative Research., Sheerin UM; Department of Molecular Neuroscience., Lees A; Queen Square Brain Bank for Neurological Disorders, University College London Institute of Neurology, London WC1N 3BG, UK., Troncoso JC; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Lewis PA; Department of Molecular Neuroscience School of Pharmacy, University of Reading, Reading RG6 6AP, UK., Bandopadhyay R; Reta Lila Weston Institute of Neurological Studies, University College London Institute of Neurology, London WC1N 1PJ, UK., Schneider BL; Neurodegenerative Disease Laboratory, Brain Mind Institute, School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015 Lausanne, Switzerland., Moore DJ; Laboratory of Molecular Neurodegenerative Research Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, MI 49503, USA darren.moore@vai.org.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2014 Sep 01; Vol. 23 (17), pp. 4621-38. Date of Electronic Publication: 2014 Apr 15.