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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Autor: Jansen, Iris E, Ye, Hui, Gibbs, J Raphael, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lungu, Codrin, Nalls, Mike A, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Ryten, Mina, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Sawcer, Stephen, Botia, Juan A, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Vandrovcova, Jana, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Simon Sanchez, Javier, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Castillo Lizardo, Melissa Gissel, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K, Heetveld, Sasja, Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M, Consortium, International Parkinson’s Disease Genetics, David, Della C, Nollen, Ellen A, Lechler, Marie C, Jain, Shushant, Shulman, Joshua M, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, SimónSánchez, Javier, Schulte, Claudia, Michels, Helen, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Seinstra, Renée I, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Lubbe, Steven, Price, Ryan, Lubbe, Steven J, Nicolas, Aude, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Drouet, Valérie, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna

Publikováno v: Genome Biology, 18:22
Genome Biology, 18, 1, pp. 22
Genome Biology, 18(22). BMC
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S J, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, (IPGDC), I P D G C, Morris, H R, Brice, A, David, D C, Singleton, A B, Nollen, E A, Jain, S, Shulman, J M, Heutink, P, Burn, D J, Walker, R & Morrison, K 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome biology, vol. 18, no. 22, pp. 1-26 . https://doi.org/10.1186/s13059-017-1147-9
Genome Biology
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, Morris, H R, Brice, A, Singleton, A B, David, D C, Nollen, E A, Jain, S, Shulman, J M, Heutink, P & International Parkinson's Disease Genetics Consortium (IPGDC) 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome Biology, vol. 18, no. 1, 22 . https://doi.org/10.1186/s13059-017-1147-9
Genome Biology, 18
Genome biology 18(1), 22 (2017). doi:10.1186/s13059-017-1147-9
Genome Biology, 18, 22
Genome Biology, 18(1):22. BioMed Central Ltd.
Genome biology, 18(1):22. BioMed Central
Jansen, I E, Ye, H, Heetveld, S, Lechler, M C, Michels, H, Seinstra, R I, Lubbe, S J, Drouet, V, Lesage, S, Majounie, E, Gibbs, J R, Nalls, M A, Ryten, M, Botia, J A, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, A K, Li, Y, Yogi, P, Amin, N, van Duijn, C M, Morris, H R, Brice, A, Singleton, A B, David, D C, Nollen, E A, Jain, S, Shulman, J M, Heutink, P, Hernandez, D G, Arepalli, S, Brooks, J, Price, R, Nicolas, A, Chong, S, Cookson, M R, Dillman, A, Moore, M, Traynor, B J, Singleton, A B, Plagnol, V, Nicholas W Wood, W W, Sheerin, U M, Jose M Bras, M B, Charlesworth, G, Gardner, M, Guerreiro, R, Trabzuni, D, Hardy, J, Sharma, M, Saad, M, Javier Simón-Sánchez, S-S, Schulte, C, Corvol, J C, Dürr, A, Vidailhet, M, Sveinbjörnsdóttir, S, Barker, R, Caroline H Williams-Gray, H W-G, Ben-Shlomo, Y, Berendse, H W, van Dijk, K D, Berg, D, Brockmann, K, Wurster, I, Mätzler, W, Gasser, T, Martinez, M, de Bie, R M A, Biffi, A, Velseboer, D, Bloem, B, Post, B, Wickremaratchi, M, van de Warrenburg, B, Bochdanovits, Z, Bonin, M, Pétursson, H, Riess, O, Burn, D J, Lubbe, S, Cooper, J M, McNeill, A, Schapira, A, Lungu, C, Chen, H, Dong, J, Chinnery, P F, Hudson, G, Clarke, C E, Moorby, C, Counsell, C, Damier, P, Dartigues, J F, Deloukas, P, Edkins, S, Hunt, S E, Tashakkori-Ghanbaria, A, Deuschl, G, Lorenz, D, Dexter, D T, Durif, F, Evans, J R, Langford, C, Foltynie, T, Goate, A, Harris, C, van Hilten, J J, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Illig, T, Jónsson, P V, Lambert, J C, O'Sullivan, S S, Revesz, T, Shaw, K, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Escott-Price, V, Pearson, J, Williams, N, Mudanohwo, E, Perlmutter, J S, Pollak, P, Rivadeneira, F, Uitterlinden, A G, Sawcer, S, Scheffer, H, Shoulson, I, Shulman, J, Smith, C, Walker, R, Spencer, C C A, Strange, A, Stefánsson, H, Bettella, F, Stefánsson, K, Stockton, J D, Talbot, K, Tanner, C M, Tison, F, Winder-Rhodes, S & Bhatia, K 2017, ' Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing ', Genome Biology, vol. 18, no. 1, 22 . https://doi.org/10.1186/s13059-017-1147-9

Background Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson’s disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c42a710738d9cbe1ee9c6b9ed4f6a6b
https://pure.eur.nl/en/publications/63c9bb9a-9584-428c-9489-1bbc459ac75d

The redistribution of Drosophila vesicular monoamine transporter mutants from synaptic vesicles to large dense-core vesicles impairs amine-dependent behaviors

Autor: Grygoruk, Anna, Chen, Audrey, Martin, Ciara A, Lawal, Hakeem O, Fei, Hao, Gutierrez, Gabriel, Biedermann, Traci, Najibi, Rod, Hadi, Richard, Chouhan, Amit K, Murphy, Niall P, Schweizer, Felix E, Macleod, Gregory T, Maidment, Nigel T, Krantz, David E

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 34, iss 20

Monoamine neurotransmitters are stored in both synaptic vesicles (SVs), which are required for release at the synapse, and large dense-core vesicles (LDCVs), which mediate extrasynaptic release. The contributions of each type of vesicular release to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::82476aec999f52c1be018a5269108b82
https://escholarship.org/uc/item/2cc9b5f4

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca²⁺-permeable AMPA receptor-mediated excitotoxicity.

Autor: Selvaraj, Bhuvaneish T., Livesey, Matthew R., Chen Zhao, Gregory, Jenna M., James, Owain T., Cleary, Elaine M., Chouhan, Amit K., Gane, Angus B., Perkins, Emma M., Dando, Owen, Lillico, Simon G., Youn-Bok Lee, Nishimura, Agnes L., Poreci, Urjana, Thankamony, Sai, Pray, Meryll, Vasistha, Navneet A., Magnani, Dario, Borooah, Shyamanga, Burr, Karen

Publikováno v: Nature Communications; 1/24/2018, Vol. 9 Issue 1, p1-14, 14p