Abstract
| Lingua originale | Inglese |
|---|---|
| pagine (da-a) | 3094-N/A |
| Rivista | Nature Communications |
| Volume | 10 |
| DOI | |
| Stato di pubblicazione | Pubblicato - 2019 |
Keywords
- AMPA receptor
- Adolescent
- Adult
- Brain
- Child
- Child, Preschool
- Cohort Studies
- Female
- Heterozygote
- Humans
- Infant
- Intellectual Disability
- Loss of Function Mutation
- Magnetic Resonance Imaging
- Male
- Neurodevelopmental Disorders
- Receptors, AMPA
- Young Adult
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In: Nature Communications, Vol. 10, 2019, pag. 3094-N/A.
Risultato della ricerca: Contributo in rivista › Articolo
TY - JOUR
T1 - AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AU - Salpietro, Vincenzo
AU - Dixon, Christine L.
AU - Guo, Hui
AU - Bello, Oscar D.
AU - Vandrovcova, Jana
AU - Efthymiou, Stephanie
AU - Maroofian, Reza
AU - Heimer, Gali
AU - Burglen, Lydie
AU - Valence, Stephanie
AU - Torti, Erin
AU - Hacke, Moritz
AU - Rankin, Julia
AU - Tariq, Huma
AU - Colin, Estelle
AU - Procaccio, Vincent
AU - Striano, Pasquale
AU - Mankad, Kshitij
AU - Lieb, Andreas
AU - Chen, Sharon
AU - Pisani, Laura
AU - Bettencourt, Conceicao
AU - Männikkö, Roope
AU - Manole, Andreea
AU - Brusco, Alfredo
AU - Grosso, Enrico
AU - Ferrero, Giovanni Battista
AU - Armstrong-Moron, Judith
AU - Gueden, Sophie
AU - Bar-Yosef, Omer
AU - Tzadok, Michal
AU - Monaghan, Kristin G.
AU - Santiago-Sim, Teresa
AU - Person, Richard E.
AU - Cho, Megan T.
AU - Willaert, Rebecca
AU - Yoo, Yongjin
AU - Chae, Jong-Hee
AU - Quan, Yingting
AU - Wu, Huidan
AU - Wang, Tianyun
AU - Bernier, Raphael A.
AU - Xia, Kun
AU - Blesson, Alyssa
AU - Jain, Mahim
AU - Motazacker, Mohammad M.
AU - Jaeger, Bregje
AU - Schneider, Amy L.
AU - Boysen, Katja
AU - Muir, Alison M.
AU - Myers, Candace T.
AU - Gavrilova, Ralitza H.
AU - Gunderson, Lauren
AU - Schultz-Rogers, Laura
AU - Klee, Eric W.
AU - Dyment, David
AU - Osmond, Matthew
AU - Parellada, Mara
AU - Llorente, Cloe
AU - Gonzalez-Peñas, Javier
AU - Carracedo, Angel
AU - Van Haeringen, Arie
AU - Ruivenkamp, Claudia
AU - Nava, Caroline
AU - Heron, Delphine
AU - Nardello, Rosaria
AU - Iacomino, Michele
AU - Minetti, Carlo
AU - Skabar, Aldo
AU - Fabretto, Antonella
AU - Hanna, Michael G.
AU - Bugiardini, Enrico
AU - Hostettler, Isabel
AU - O’Callaghan, Benjamin
AU - Khan, Alaa
AU - Cortese, Andrea
AU - O’Connor, Emer
AU - Yau, Wai Y.
AU - Bourinaris, Thomas
AU - Kaiyrzhanov, Rauan
AU - Chelban, Viorica
AU - Madej, Monika
AU - Diana, Maria C.
AU - Vari, Maria S.
AU - Pedemonte, Marina
AU - Bruno, Claudio
AU - Balagura, Ganna
AU - Scala, Marcello
AU - Fiorillo, Chiara
AU - Nobili, Lino
AU - Malintan, Nancy T.
AU - Zanetti, Maria N.
AU - Krishnakumar, Shyam S.
AU - Lignani, Gabriele
AU - Jepson, James E. C.
AU - Broda, Paolo
AU - Baldassari, Simona
AU - Rossi, Pia
AU - Fruscione, Floriana
AU - Madia, Francesca
AU - Traverso, Monica
AU - De-Marco, Patrizia
AU - Pérez-Dueñas, Belen
AU - Munell, Francina
AU - Kriouile, Yamna
AU - El-Khorassani, Mohamed
AU - Karashova, Blagovesta
AU - Avdjieva, Daniela
AU - Kathom, Hadil
AU - Tincheva, Radka
AU - Van-Maldergem, Lionel
AU - Nachbauer, Wolfgang
AU - Boesch, Sylvia
AU - Gagliano, Antonella
AU - Amadori, Elisabetta
AU - Goraya, Jatinder S.
AU - Sultan, Tipu
AU - Kirmani, Salman
AU - Ibrahim, Shahnaz
AU - Jan, Farida
AU - Mine, Jun
AU - Banu, Selina
AU - Veggiotti, Pierangelo
AU - Zuccotti, Gian V.
AU - Ferrari, Michel D.
AU - Van Den Maagdenberg, Arn M. J.
AU - Verrotti, Alberto
AU - Marseglia, Gian L.
AU - Savasta, Salvatore
AU - Soler, Miguel A.
AU - Scuderi, Carmela
AU - Borgione, Eugenia
AU - Chimenz, Roberto
AU - Gitto, Eloisa
AU - Dipasquale, Valeria
AU - Sallemi, Alessia
AU - Fusco, Monica
AU - Cuppari, Caterina
AU - Cutrupi, Maria C.
AU - Ruggieri, Martino
AU - Cama, Armando
AU - Capra, Valeria
AU - Mencacci, Niccolò E.
AU - Boles, Richard
AU - Gupta, Neerja
AU - Kabra, Madhulika
AU - Papacostas, Savvas
AU - Zamba-Papanicolaou, Eleni
AU - Dardiotis, Efthymios
AU - Maqbool, Shazia
AU - Rana, Nuzhat
AU - Atawneh, Osama
AU - Lim, Shen Y.
AU - Shaikh, Farooq
AU - Koutsis, George
AU - Breza, Marianthi
AU - Coviello, Domenico A.
AU - Dauvilliers, Yves A.
AU - Alkhawaja, Issam
AU - Alkhawaja, Mariam
AU - Al-Mutairi, Fuad
AU - Stojkovic, Tanya
AU - Ferrucci, Veronica
AU - Zollo, Massimo
AU - Alkuraya, Fowzan S.
AU - Kinali, Maria
AU - Sherifa, Hamed
AU - Benrhouma, Hanene
AU - Turki, Ilhem B. Y.
AU - Tazir, Meriem
AU - Obeid, Makram
AU - Bakhtadze, Sophia
AU - Saadi, Nebal W.
AU - Zaki, Maha S.
AU - Triki, Chahnez C.
AU - Benfenati, Fabio
AU - Gustincich, Stefano
AU - Kara, Majdi
AU - Belcastro, Vincenzo
AU - Specchio, Nicola
AU - Capovilla, Giuseppe
AU - Karimiani, Ehsan G.
AU - Salih, Ahmed M.
AU - Okubadejo, Njideka U.
AU - Ojo, Oluwadamilola O.
AU - Oshinaike, Olajumoke O.
AU - Oguntunde, Olapeju
AU - Wahab, Kolawole
AU - Bello, Abiodun H.
AU - Abubakar, Sanni
AU - Obiabo, Yahaya
AU - Nwazor, Ernest
AU - Ekenze, Oluchi
AU - Williams, Uduak
AU - Iyagba, Alagoma
AU - Taiwo, Lolade
AU - Komolafe, Morenikeji
AU - Senkevich, Konstantin
AU - Shashkin, Chingiz
AU - Zharkynbekova, Nazira
AU - Koneyev, Kairgali
AU - Manizha, Ganieva
AU - Isrofilov, Maksud
AU - Guliyeva, Ulviyya
AU - Salayev, Kamran
AU - Khachatryan, Samson
AU - Rossi, Salvatore
AU - Silvestri, Gabriella
AU - Haridy, Nourelhoda
AU - Ramenghi, Luca A.
AU - Xiromerisiou, Georgia
AU - David, Emanuele
AU - Aguennouz, Mhammed
AU - Fidani, Liana
AU - Spanaki, Cleanthe
AU - Tucci, Arianna
AU - Raspall-Chaure, Miquel
AU - Chez, Michael
AU - Tsai, Anne
AU - Fassi, Emily
AU - Shinawi, Marwan
AU - Constantino, John N.
AU - De Zorzi, Rita
AU - Fortuna, Sara
AU - Kok, Fernando
AU - Keren, Boris
AU - Bonneau, Dominique
AU - Choi, Murim
AU - Benzeev, Bruria
AU - Zara, Federico
AU - Mefford, Heather C.
AU - Scheffer, Ingrid E.
AU - Clayton-Smith, Jill
AU - Macaya, Alfons
AU - Rothman, James E.
AU - Eichler, Evan E.
AU - Kullmann, Dimitri M.
AU - Houlden, Henry
PY - 2019
Y1 - 2019
N2 - 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 Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
AB - 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 Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.
KW - AMPA receptor
KW - Adolescent
KW - Adult
KW - Brain
KW - Child
KW - Child, Preschool
KW - Cohort Studies
KW - Female
KW - Heterozygote
KW - Humans
KW - Infant
KW - Intellectual Disability
KW - Loss of Function Mutation
KW - Magnetic Resonance Imaging
KW - Male
KW - Neurodevelopmental Disorders
KW - Receptors, AMPA
KW - Young Adult
KW - AMPA receptor
KW - Adolescent
KW - Adult
KW - Brain
KW - Child
KW - Child, Preschool
KW - Cohort Studies
KW - Female
KW - Heterozygote
KW - Humans
KW - Infant
KW - Intellectual Disability
KW - Loss of Function Mutation
KW - Magnetic Resonance Imaging
KW - Male
KW - Neurodevelopmental Disorders
KW - Receptors, AMPA
KW - Young Adult
UR - http://hdl.handle.net/10807/170970
U2 - 10.1038/s41467-019-10910-w
DO - 10.1038/s41467-019-10910-w
M3 - Article
SN - 2041-1723
VL - 10
SP - 3094-N/A
JO - Nature Communications
JF - Nature Communications
ER -