AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transpor...
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Nature Portfolio
2019
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oai:doaj.org-article:67fdcf82e84544e095b6c7c81e0bd8ff2021-12-02T15:35:33ZAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders10.1038/s41467-019-10910-w2041-1723https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff2019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10910-whttps://doaj.org/toc/2041-1723Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”Vincenzo SalpietroChristine L. DixonHui GuoOscar D. BelloJana VandrovcovaStephanie EfthymiouReza MaroofianGali HeimerLydie BurglenStephanie ValenceErin TortiMoritz HackeJulia RankinHuma TariqEstelle ColinVincent ProcaccioPasquale StrianoKshitij MankadAndreas LiebSharon ChenLaura PisaniConceicao BettencourtRoope MännikköAndreea ManoleAlfredo BruscoEnrico GrossoGiovanni Battista FerreroJudith Armstrong-MoronSophie GuedenOmer Bar-YosefMichal TzadokKristin G. MonaghanTeresa Santiago-SimRichard E. PersonMegan T. ChoRebecca WillaertYongjin YooJong-Hee ChaeYingting QuanHuidan WuTianyun WangRaphael A. BernierKun XiaAlyssa BlessonMahim JainMohammad M. MotazackerBregje JaegerAmy L. SchneiderKatja BoysenAlison M. MuirCandace T. MyersRalitza H. GavrilovaLauren GundersonLaura Schultz-RogersEric W. KleeDavid DymentMatthew OsmondMara ParelladaCloe LlorenteJavier Gonzalez-PeñasAngel CarracedoArie Van HaeringenClaudia RuivenkampCaroline NavaDelphine HeronRosaria NardelloMichele IacominoCarlo MinettiAldo SkabarAntonella FabrettoSYNAPS Study GroupMiquel Raspall-ChaureMichael ChezAnne TsaiEmily FassiMarwan ShinawiJohn N. ConstantinoRita De ZorziSara FortunaFernando KokBoris KerenDominique BonneauMurim ChoiBruria BenzeevFederico ZaraHeather C. MeffordIngrid E. SchefferJill Clayton-SmithAlfons MacayaJames E. RothmanEvan E. EichlerDimitri M. KullmannHenry HouldenNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-16 (2019) |
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DOAJ |
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DOAJ |
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EN |
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Science Q |
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Science Q Vincenzo Salpietro Christine L. Dixon Hui Guo Oscar D. Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G. Monaghan Teresa Santiago-Sim Richard E. Person Megan T. Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A. Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M. Motazacker Bregje Jaeger Amy L. Schneider Katja Boysen Alison M. Muir Candace T. Myers Ralitza H. Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W. Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto SYNAPS Study Group Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N. Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C. Mefford Ingrid E. Scheffer Jill Clayton-Smith Alfons Macaya James E. Rothman Evan E. Eichler Dimitri M. Kullmann Henry Houlden AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| description |
Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.” |
| format |
article |
| author |
Vincenzo Salpietro Christine L. Dixon Hui Guo Oscar D. Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G. Monaghan Teresa Santiago-Sim Richard E. Person Megan T. Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A. Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M. Motazacker Bregje Jaeger Amy L. Schneider Katja Boysen Alison M. Muir Candace T. Myers Ralitza H. Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W. Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto SYNAPS Study Group Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N. Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C. Mefford Ingrid E. Scheffer Jill Clayton-Smith Alfons Macaya James E. Rothman Evan E. Eichler Dimitri M. Kullmann Henry Houlden |
| author_facet |
Vincenzo Salpietro Christine L. Dixon Hui Guo Oscar D. Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G. Monaghan Teresa Santiago-Sim Richard E. Person Megan T. Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A. Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M. Motazacker Bregje Jaeger Amy L. Schneider Katja Boysen Alison M. Muir Candace T. Myers Ralitza H. Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W. Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto SYNAPS Study Group Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N. Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C. Mefford Ingrid E. Scheffer Jill Clayton-Smith Alfons Macaya James E. Rothman Evan E. Eichler Dimitri M. Kullmann Henry Houlden |
| author_sort |
Vincenzo Salpietro |
| title |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_short |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_full |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_fullStr |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_full_unstemmed |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders |
| title_sort |
ampa receptor glua2 subunit defects are a cause of neurodevelopmental disorders |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff |
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