Truncating mutations in RBM12 are associated with psychosis

Autor: Kari Stefansson, Hreinn Stefansson, Johanna Huttenlocher, Augustine Kong, Tiina Paunio, Jaana Suvisaari, Engilbert Sigurdsson, Sunna Arnarsdottir, Gardar Sveinbjornsson, Daniel F. Gudbjartsson, Thorgeir E. Thorgeirsson, Magnús Haraldsson, Oddur Ingimarsson, Gudrun A. Jonsdottir, Thorarinn Tyrfingsson, Steinunn Gudmundsdottir, Gudmundur L. Norddahl, Michael L. Frigge, Minna Torniainen-Holm, Stacy Steinberg

Publikováno v: Nature genetics. 49(8)

Kari Stefansson and colleagues identify a nonsense mutation in RBM12 segregating with psychosis in an extended Icelandic pedigree and an independent frameshift mutation in RBM12 segregating with psychosis in a Finnish family. They further show that c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e1d795e5a883d6cf805abc10add21c
https://pubmed.ncbi.nlm.nih.gov/28628109

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Autor: Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier-Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude-Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Basar Bilgic, Murat Emre, Nihan Erginel-Unaltuna, Gamze Guven, François Tison, Christine Tranchant, Marie Vidailhet, Jean-Christophe Corvol, Paul Krack, Anne-Louise Leutenegger, Michael A. Nalls, Dena G. Hernandez, Peter Heutink, J. Raphael Gibbs, John Hardy, Nicholas W. Wood, Thomas Gasser, Alexandra Durr, Jean-François Deleuze, Meriem Tazir, Alain Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, Alexandra Dürr, Franck Durif, Stephan Klebe, Maria Martinez, Pierre Pollak, Olivier Rascol, Marc Vérin, François Viallet, Jean Christophe Corvol, Sampath Arepalli, Roger A. Barker, Yoav Ben-Shlomo, Daniela Berg, Francesco Bettella, Kailash Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bastiaan R. Bloem, Zoltan Bochdanovits, Michael Bonin, Jose M. Bras, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E. Clarke, Mark R. Cookson, Carl Counsell, Jean-François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, Jing Dong, Frank Durif, Sarah Edkins, Valentina Escott-Price, Jonathan R. Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert Hollenbeck, Peter Holmans, Janice Holton, Michèle Hu, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah E. Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Laura L. Kilarski, Iris E. Jansen, Jean-Charles Lambert, Cordelia Langford, Andrew Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Steven Lubbe, Codrin Lungu, María Martinez, Walter Mätzler, Alisdair McNeill, Catriona Moorby, Matthew Moore, Karen E. Morrison, Ese Mudanohwo, Sean S. O’Sullivan, Michael J. Owen, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Vincent Plagnol, Bart Post, Simon Potter, Bernard Ravina, Tamas Revesz, Olaf Riess, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Mohamad Saad, Javier Simón-Sánchez, Stephen Sawcer, Anthony Schapira, Hans Scheffer, Claudia Schulte, Manu Sharma, Karen Shaw, Una-Marie Sheerin, Ira Shoulson, Joshua Shulman, Ellen Sidransky, Chris C.A. Spencer, Hreinn Stefánsson, Kári Stefánsson, Joanna D. Stockton, Amy Strange, Kevin Talbot, Carlie M. Tanner, Avazeh Tashakkori-Ghanbaria, Daniah Trabzuni, Bryan J. Traynor, André G. Uitterlinden, Daan Velseboer, Robert Walker, Bart van de Warrenburg, Mirdhu Wickremaratchi, Caroline H. Williams-Gray, Sophie Winder-Rhodes, Isabel Wurster, Nigel Williams, Huw R. Morris, Andrew B. Singleton

Publikováno v: Lesage, S, Drouet, V, Majounie, E, Bochdanovits, Z & Brice, A 2016, ' Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. ', American Journal of Human Genetics, no. 98, 3, pp. 500-513 . https://doi.org/10.1016/j.ajhg.2016.01.014
American Journal of Human Genetics, 98, 3, pp. 500-13
American Journal of Human Genetics, 500-513. Cell Press
ISSUE=98;STARTPAGE=500;ENDPAGE=513;ISSN=0002-9297;TITLE=American Journal of Human Genetics
American Journal of Human Genetics, 98, 500-13
American journal of human genetics, 98(3), 500-513. Cell Press
American Journal of Human Genetics, Vol. 98, No 3 (2016) pp. 500-513
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
American Journal of Human Genetics, 98(3), 500-513
The American journal of human genetics 98(3), 500-513 (2016). doi:10.1016/j.ajhg.2016.01.014

Contains fulltext : 167923.pdf (Publisher’s version ) (Open Access) Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f98d0bf818bad4fd1d6a8e74a6b556
https://hdl.handle.net/1871.1/2b5c412d-ee54-4a85-a9c6-fb0fef858cc4

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts

Autor: Johanna, Huttenlocher, Rejko, Krüger, Philipp, Capetian, Katja, Lohmann, Kathrin, Brockmann, Ilona, Csoti, Christine, Klein, Daniela, Berg, Thomas, Gasser, Michael, Bonin, Olaf, Riess, Peter, Bauer

Publikováno v: Journal of medical genetics 52(1), 37-41 (2014). doi:10.1136/jmedgenet-2014-102570

Missense mutations in the eukaryotic translation initiation factor 4-γ 1 (EIF4G1) gene have previously been implicated in familial Parkinson's disease (PD). A large PD family with autosomal-dominant segregation showed a heterozygous missense mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3866545d977a855248fc06bbd64727da

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts: Table1

Autor: Johanna Huttenlocher, Rejko Krüger, Philipp Capetian, Daniela Berg, Olaf Riess, Michael Bonin, Peter Bauer, Katja Lohmann, Thomas Gasser, Christine Klein, Ilona Csoti, Kathrin Brockmann

Publikováno v: Journal of Medical Genetics

Background Missense mutations in the eukaryotic translation initiation factor 4-γ 1 ( EIF4G1 ) gene have previously been implicated in familial Parkinson's disease (PD). A large PD family with autosomal-dominant segregation showed a heterozygous mis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ed34ceb0e0b45a0ae04dde8208f375

Atypical juvenile parkinsonism in a consanguineous SPG15 family

Autor: Peter Bauer, Matthias Reimold, Ludger Schöls, Hjörvar Pétursson, Julia Schicks, Matthis Synofzik, Johanna Huttenlocher

Publikováno v: Movement Disorders. 26:565-566

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cbb8192d4596175647aec324f66eb47
https://doi.org/10.1002/mds.23472