AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.


Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
12 07 2019
Historique:
received: 30 07 2018
accepted: 22 05 2019
entrez: 14 7 2019
pubmed: 14 7 2019
medline: 28 10 2019
Statut: epublish

Résumé

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca

Identifiants

pubmed: 31300657
doi: 10.1038/s41467-019-10910-w
pii: 10.1038/s41467-019-10910-w
pmc: PMC6626132
doi:

Substances chimiques

Receptors, AMPA 0
glutamate receptor ionotropic, AMPA 2 P6W5IXV8V9

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Video-Audio Media

Langues

eng

Sous-ensembles de citation

IM

Pagination

3094

Subventions

Organisme : NICHD NIH HHS
ID : U54 HD083091
Pays : United States
Organisme : Medical Research Council
ID : G0801316
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0900613
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L01095X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0400136
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S006753/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0600368
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0400627
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH101221
Pays : United States
Organisme : Medical Research Council
ID : G116/147
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0601440
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0802760
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1001253
Pays : United Kingdom
Organisme : Medical Research Council
ID : G108/638
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R01 NS069605
Pays : United States
Organisme : Medical Research Council
ID : G0200373
Pays : United Kingdom
Organisme : The Dunhill Medical Trust
ID : R605/0717
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S01165X/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 209807/Z/17/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 212285/Z/18/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : G9805989
Pays : United Kingdom

Investigateurs

Michael G Hanna (MG)
Enrico Bugiardini (E)
Isabel Hostettler (I)
Benjamin O'Callaghan (B)
Alaa Khan (A)
Andrea Cortese (A)
Emer O'Connor (E)
Wai Y Yau (WY)
Thomas Bourinaris (T)
Rauan Kaiyrzhanov (R)
Viorica Chelban (V)
Monika Madej (M)
Maria C Diana (MC)
Maria S Vari (MS)
Marina Pedemonte (M)
Claudio Bruno (C)
Ganna Balagura (G)
Marcello Scala (M)
Chiara Fiorillo (C)
Lino Nobili (L)
Nancy T Malintan (NT)
Maria N Zanetti (MN)
Shyam S Krishnakumar (SS)
Gabriele Lignani (G)
James E C Jepson (JEC)
Paolo Broda (P)
Simona Baldassari (S)
Pia Rossi (P)
Floriana Fruscione (F)
Francesca Madia (F)
Monica Traverso (M)
Patrizia De-Marco (P)
Belen Pérez-Dueñas (B)
Francina Munell (F)
Yamna Kriouile (Y)
Mohamed El-Khorassani (M)
Blagovesta Karashova (B)
Daniela Avdjieva (D)
Hadil Kathom (H)
Radka Tincheva (R)
Lionel Van-Maldergem (L)
Wolfgang Nachbauer (W)
Sylvia Boesch (S)
Antonella Gagliano (A)
Elisabetta Amadori (E)
Jatinder S Goraya (JS)
Tipu Sultan (T)
Salman Kirmani (S)
Shahnaz Ibrahim (S)
Farida Jan (F)
Jun Mine (J)
Selina Banu (S)
Pierangelo Veggiotti (P)
Gian V Zuccotti (GV)
Michel D Ferrari (MD)
Arn M J Van Den Maagdenberg (AMJ)
Alberto Verrotti (A)
Gian L Marseglia (GL)
Salvatore Savasta (S)
Miguel A Soler (MA)
Carmela Scuderi (C)
Eugenia Borgione (E)
Roberto Chimenz (R)
Eloisa Gitto (E)
Valeria Dipasquale (V)
Alessia Sallemi (A)
Monica Fusco (M)
Caterina Cuppari (C)
Maria C Cutrupi (MC)
Martino Ruggieri (M)
Armando Cama (A)
Valeria Capra (V)
Niccolò E Mencacci (NE)
Richard Boles (R)
Neerja Gupta (N)
Madhulika Kabra (M)
Savvas Papacostas (S)
Eleni Zamba-Papanicolaou (E)
Efthymios Dardiotis (E)
Shazia Maqbool (S)
Nuzhat Rana (N)
Osama Atawneh (O)
Shen Y Lim (SY)
Farooq Shaikh (F)
George Koutsis (G)
Marianthi Breza (M)
Domenico A Coviello (DA)
Yves A Dauvilliers (YA)
Issam AlKhawaja (I)
Mariam AlKhawaja (M)
Fuad Al-Mutairi (F)
Tanya Stojkovic (T)
Veronica Ferrucci (V)
Massimo Zollo (M)
Fowzan S Alkuraya (FS)
Maria Kinali (M)
Hamed Sherifa (H)
Hanene Benrhouma (H)
Ilhem B Y Turki (IBY)
Meriem Tazir (M)
Makram Obeid (M)
Sophia Bakhtadze (S)
Nebal W Saadi (NW)
Maha S Zaki (MS)
Chahnez C Triki (CC)
Fabio Benfenati (F)
Stefano Gustincich (S)
Majdi Kara (M)
Vincenzo Belcastro (V)
Nicola Specchio (N)
Giuseppe Capovilla (G)
Ehsan G Karimiani (EG)
Ahmed M Salih (AM)
Njideka U Okubadejo (NU)
Oluwadamilola O Ojo (OO)
Olajumoke O Oshinaike (OO)
Olapeju Oguntunde (O)
Kolawole Wahab (K)
Abiodun H Bello (AH)
Sanni Abubakar (S)
Yahaya Obiabo (Y)
Ernest Nwazor (E)
Oluchi Ekenze (O)
Uduak Williams (U)
Alagoma Iyagba (A)
Lolade Taiwo (L)
Morenikeji Komolafe (M)
Konstantin Senkevich (K)
Chingiz Shashkin (C)
Nazira Zharkynbekova (N)
Kairgali Koneyev (K)
Ganieva Manizha (G)
Maksud Isrofilov (M)
Ulviyya Guliyeva (U)
Kamran Salayev (K)
Samson Khachatryan (S)
Salvatore Rossi (S)
Gabriella Silvestri (G)
Nourelhoda Haridy (N)
Luca A Ramenghi (LA)
Georgia Xiromerisiou (G)
Emanuele David (E)
Mhammed Aguennouz (M)
Liana Fidani (L)
Cleanthe Spanaki (C)
Arianna Tucci (A)

Commentaires et corrections

Type : CommentIn

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Auteurs

Vincenzo Salpietro (V)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.

Christine L Dixon (CL)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Hui Guo (H)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.

Oscar D Bello (OD)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Jana Vandrovcova (J)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Stephanie Efthymiou (S)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Reza Maroofian (R)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Gali Heimer (G)

Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.

Lydie Burglen (L)

Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France.

Stephanie Valence (S)

Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France.

Erin Torti (E)

GeneDx, Gaithersburg, MD, 20877, USA.

Moritz Hacke (M)

Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany.

Julia Rankin (J)

Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK.

Huma Tariq (H)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Estelle Colin (E)

Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.

Vincent Procaccio (V)

Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.

Pasquale Striano (P)

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.

Kshitij Mankad (K)

Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.

Andreas Lieb (A)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Sharon Chen (S)

Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.

Laura Pisani (L)

Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.

Conceicao Bettencourt (C)

Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.

Roope Männikkö (R)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Andreea Manole (A)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Alfredo Brusco (A)

Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.

Enrico Grosso (E)

Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.

Giovanni Battista Ferrero (GB)

Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy.

Judith Armstrong-Moron (J)

Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain.

Sophie Gueden (S)

Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France.

Omer Bar-Yosef (O)

Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.

Michal Tzadok (M)

Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.

Kristin G Monaghan (KG)

GeneDx, Gaithersburg, MD, 20877, USA.

Teresa Santiago-Sim (T)

GeneDx, Gaithersburg, MD, 20877, USA.

Richard E Person (RE)

GeneDx, Gaithersburg, MD, 20877, USA.

Megan T Cho (MT)

GeneDx, Gaithersburg, MD, 20877, USA.

Rebecca Willaert (R)

GeneDx, Gaithersburg, MD, 20877, USA.

Yongjin Yoo (Y)

Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.

Jong-Hee Chae (JH)

Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea.

Yingting Quan (Y)

Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.

Huidan Wu (H)

Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.

Tianyun Wang (T)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.

Raphael A Bernier (RA)

Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA.

Kun Xia (K)

Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.

Alyssa Blesson (A)

Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.

Mahim Jain (M)

Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.

Mohammad M Motazacker (MM)

Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands.

Bregje Jaeger (B)

Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands.

Amy L Schneider (AL)

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.

Katja Boysen (K)

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.

Alison M Muir (AM)

Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.

Candace T Myers (CT)

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.

Ralitza H Gavrilova (RH)

Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.

Lauren Gunderson (L)

Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.

Laura Schultz-Rogers (L)

Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.

Eric W Klee (EW)

Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.

David Dyment (D)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.

Matthew Osmond (M)

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.
Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada.
Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada.

Mara Parellada (M)

Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain.

Cloe Llorente (C)

Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain.

Javier Gonzalez-Peñas (J)

Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain.

Angel Carracedo (A)

Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain.
Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain.

Arie Van Haeringen (A)

Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.

Claudia Ruivenkamp (C)

Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.

Caroline Nava (C)

Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.

Delphine Heron (D)

Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.

Rosaria Nardello (R)

Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro", University of Palermo, 90133, Palermo, Italy.

Michele Iacomino (M)

Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy.

Carlo Minetti (C)

Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.

Aldo Skabar (A)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy.

Antonella Fabretto (A)

Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy.

Miquel Raspall-Chaure (M)

Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.

Michael Chez (M)

Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA.

Anne Tsai (A)

Department of Genetics and Inherited Metabolic diseases, Children's Hospital Colorado, Aurora, CO, 80045, USA.

Emily Fassi (E)

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.

Marwan Shinawi (M)

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.

John N Constantino (JN)

William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.

Rita De Zorzi (R)

Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.

Sara Fortuna (S)

Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.

Fernando Kok (F)

Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil.
Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil.

Boris Keren (B)

Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.

Dominique Bonneau (D)

Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.
MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.

Murim Choi (M)

Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.

Bruria Benzeev (B)

Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.

Federico Zara (F)

Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy.

Heather C Mefford (HC)

Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.

Ingrid E Scheffer (IE)

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.

Jill Clayton-Smith (J)

Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK.
Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK.

Alfons Macaya (A)

Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.

James E Rothman (JE)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA.

Evan E Eichler (EE)

Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA.

Dimitri M Kullmann (DM)

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. d.kullmann@ucl.ac.uk.

Henry Houlden (H)

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.

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