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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

NATURE COMMUNICATIONS 10 巻 2019-07-12 発行

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タイトル	AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
著者	Salpietro Vincenzo Dixon Christine L. Guo Hui Bello Oscar D. Vandrovcova Jana Efthymiou Stephanie Maroofian Reza Heimer Gali Burglen Lydie Valence Stephanie Torti Erin Hacke Moritz Rankin Julia Tariq Huma Colin Estelle Procaccio Vincent Striano Pasquale Mankad Kshitij Lieb Andreas Chen Sharon Pisani Laura Bettencourt Conceicao Mannikko Roope Manole Andreea Brusco Alfredo Grosso Enrico Ferrero Giovanni Battista Armstrong-Moron Judith Gueden Sophie Bar-Yosef Omer Tzadok Michal Monaghan Kristin G. Santiago-Sim Teresa Person Richard E. Cho Megan T. Willaert Rebecca Yoo Yongjin Chae Jong-Hee Quan Yingting Wu Huidan Wang Tianyun Bernier Raphael A. Xia Kun Blesson Alyssa Jain Mahim Motazacker Mohammad M. Jaeger Bregje Schneider Amy L. Boysen Katja Muir Alison M. Myers Candace T. Gavrilova Ralitza H. Gunderson Lauren Schultz-Rogers Laura Klee Eric W. Dyment David Osmond Matthew Parellada Mara Llorente Cloe Gonzalez-Penas Javier Carracedo Angel Van Haeringen Arie Ruivenkamp Claudia Nava Caroline Heron Delphine Nardello Rosaria Iacomino Michele Minetti Carlo Skabar Aldo Fabretto Antonella Chez Michael Tsai Anne Fassi Emily Shinawi Marwan Constantino John N. De Zorzi Rita Fortuna Sara Kok Fernando Keren Boris Bonneau Dominique Choi Murim Benzeev Bruria Zara Federico Mefford Heather C. Scheffer Ingrid E. Clayton-Smith Jill Macaya Alfons Rothman James E. Eichler Evan E. Kullmann Dimitri M. Houlden Henry Raspall-Chaure Miquel Hanna Michael G. Bugiardini Enrico Hostettler Isabel O'Callaghan Benjamin Khan Alaa Cortese Andrea O'Connor Emer Yau Wai Y. Bourinaris Thomas Kaiyrzhanov Rauan Chelban Viorica Madej Monika Diana Maria C. Vari Maria S. Pedemonte Marina Bruno Claudio Balagura Ganna Scala Marcello Fiorillo Chiara Nobili Lino Malintan Nancy T. Zanetti Maria N. Krishnakumar Shyam S. Lignani Gabriele Jepson James E. C. Broda Paolo Baldassari Simona Rossi Pia Fruscione Floriana Madia Francesca Traverso Monica De-Marco Patrizia Perez-Duenas Belen Munell Francina Kriouile Yamna El-Khorassani Mohamed Karashova Blagovesta Avdjieva Daniela Kathom Hadil Tincheva Radka Van-Maldergem Lionel Nachbauer Wolfgang Boesch Sylvia Gagliano Antonella Amadori Elisabetta Goraya Jatinder S. Sultan Tipu Kirmani Salman Ibrahim Shahnaz Jan Farida Mine Jun Banu Selina Veggiotti Pierangelo Zuccotti Gian V Ferrari Michel D. Van Den Maagdenberg Arn M. J. Verrotti Alberto Marseglia Gian L. Savasta Salvatore Soler Miguel A. Scuderi Carmela Borgione Eugenia Chimenz Roberto Gitto Eloisa Dipasquale Valeria Sallemi Alessia Fusco Monica Cuppari Caterina Cutrupi Maria C. Ruggieri Martino Cama Armando Capra Valeria Mencacci Niccolo E. Boles Richard Gupta Neerja Kabra Madhulika Papacostas Savvas Zamba-Papanicolaou Eleni Dardiotis Efthymios Maqbool Shazia Rana Nuzhat Atawneh Osama Lim Shen Y. Shaikh Farooq Koutsis George Breza Marianthi Coviello Domenico A. Dauvilliers Yves A. AlKhawaja Issam AlKhawaja Mariam Al-Mutairi Fuad Stojkovic Tanya Ferrucci Veronica Zollo Massimo Alkuraya Fowzan S. Kinali Maria Sherifa Hamed Benrhouma Hanene Turki Ilhem B. Y. Tazir Meriem Obeid Makram Bakhtadze Sophia Saadi Nebal W. Zaki Maha S. Triki Chahnez C. Benfenati Fabio Gustincich Stefano Kara Majdi Belcastro Vincenzo Specchio Nicola Capovilla Giuseppe Karimiani Ehsan G. Salih Ahmed M. Okubadejo Njideka U. Ojo Oluwadamilola O. Oshinaike Olajumoke O. Oguntunde Olapeju Wahab Kolawole Bello Abiodun H. Abubakar Sanni Obiabo Yahaya Nwazor Ernest Ekenze Oluchi Williams Uduak Iyagba Alagoma Taiwo Lolade Komolafe Morenikeji Senkevich Konstantin Shashkin Chingiz Zharkynbekova Nazira Koneyev Kairgali Manizha Ganieva Isrofilov Maksud Guliyeva Ulviyya Salayev Kamran Khachatryan Samson Rossi Salvatore Silvestri Gabriella Haridy Nourelhoda Ramenghi Luca A. Xiromerisiou Georgia David Emanuele Aguennouz Mhammed Fidani Liana Spanaki Cleanthe Tucci Arianna
収録物名	NATURE COMMUNICATIONS
巻	10
収録物識別子	ISSN 2041-1723
言語	英語
資源タイプ	学術雑誌論文
出版者	NATURE PUBLISHING GROUP
発行日	2019-07-12
アクセス権	メタデータのみ
関連情報	[DOI] 10.1038/s41467-019-10910-w [PMID] 31300657
備考	We gratefully acknowledge all the families for their enthusiastic participation to this study. Further acknowledgements can be found in Supplementary Note 29. This study was supported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children's Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union's Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.) and the US National Institutes of Health (NIH grant R01MH101221 to E.E.E). E.E.E. is an investigator of the Howard Hughes Medical Institute. We acknowledge the CINECA Awards N. HP10BTJPER, 2017 (to SF), for the availability of high performance computing resources and support. We are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). We are grateful to M. Farrant and S. Cull-Candy for helpful suggestions and the stargazin plasmid. We also acknowledge the University of Washington Center for Mendelian Genomics.