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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_67fdcf82e84544e095b6c7c81e0bd8ff

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

About this item

Full title

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Author / Creator

SYNAPS Study Group , 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 , Männikkö, 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-Peñas, Javier , Carracedo, Angel , Van Haeringen, Arie , Ruivenkamp, Claudia , Nava, Caroline , Heron, Delphine , Nardello, Rosaria , Iacomino, Michele , Minetti, Carlo , Skabar, Aldo , Fabretto, Antonella , Raspall-Chaure, Miquel , 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. and Houlden, Henry

Publisher

London: Nature Publishing Group UK

Journal title

Nature communications, 2019-07, Vol.10 (1), p.3094-16, Article 3094

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

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
2+
-impermeable, with a linear relationship between current and...

Alternative Titles

Full title

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Authors, Artists and Contributors

Author / Creator

SYNAPS Study Group
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
Männikkö, 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-Peñas, Javier
Carracedo, Angel
Van Haeringen, Arie
Ruivenkamp, Claudia
Nava, Caroline
Heron, Delphine
Nardello, Rosaria
Iacomino, Michele
Minetti, Carlo
Skabar, Aldo
Fabretto, Antonella
Raspall-Chaure, Miquel
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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_67fdcf82e84544e095b6c7c81e0bd8ff

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_67fdcf82e84544e095b6c7c81e0bd8ff

Other Identifiers

ISSN

2041-1723

E-ISSN

2041-1723

DOI

10.1038/s41467-019-10910-w

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