Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

The R138Q mutation in the Fragile X Mental Retardation 1 (FMR1) gene has been associated with Fragile X syndrome (FXS). Here, the authors present a Fmr1 R138Q Knock-In mouse model and show that R138Q mutation results in impaired long-term potentiation and socio-cognitive performance in these mice.

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Autores principales:	Marta Prieto, Alessandra Folci, Gwénola Poupon, Sara Schiavi, Valeria Buzzelli, Marie Pronot, Urielle François, Paula Pousinha, Norma Lattuada, Sophie Abelanet, Sara Castagnola, Magda Chafai, Anouar Khayachi, Carole Gwizdek, Frédéric Brau, Emmanuel Deval, Maura Francolini, Barbara Bardoni, Yann Humeau, Viviana Trezza, Stéphane Martin
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/1f547051b6104cb2ae2a8dd5047148af
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spelling	oai:doaj.org-article:1f547051b6104cb2ae2a8dd5047148af2021-12-02T13:33:01ZMissense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice10.1038/s41467-021-21820-12041-1723https://doaj.org/article/1f547051b6104cb2ae2a8dd5047148af2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-21820-1https://doaj.org/toc/2041-1723The R138Q mutation in the Fragile X Mental Retardation 1 (FMR1) gene has been associated with Fragile X syndrome (FXS). Here, the authors present a Fmr1 R138Q Knock-In mouse model and show that R138Q mutation results in impaired long-term potentiation and socio-cognitive performance in these mice.Marta PrietoAlessandra FolciGwénola PouponSara SchiaviValeria BuzzelliMarie PronotUrielle FrançoisPaula PousinhaNorma LattuadaSophie AbelanetSara CastagnolaMagda ChafaiAnouar KhayachiCarole GwizdekFrédéric BrauEmmanuel DevalMaura FrancoliniBarbara BardoniYann HumeauViviana TrezzaStéphane MartinNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Marta Prieto Alessandra Folci Gwénola Poupon Sara Schiavi Valeria Buzzelli Marie Pronot Urielle François Paula Pousinha Norma Lattuada Sophie Abelanet Sara Castagnola Magda Chafai Anouar Khayachi Carole Gwizdek Frédéric Brau Emmanuel Deval Maura Francolini Barbara Bardoni Yann Humeau Viviana Trezza Stéphane Martin Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
description	The R138Q mutation in the Fragile X Mental Retardation 1 (FMR1) gene has been associated with Fragile X syndrome (FXS). Here, the authors present a Fmr1 R138Q Knock-In mouse model and show that R138Q mutation results in impaired long-term potentiation and socio-cognitive performance in these mice.
format	article
author	Marta Prieto Alessandra Folci Gwénola Poupon Sara Schiavi Valeria Buzzelli Marie Pronot Urielle François Paula Pousinha Norma Lattuada Sophie Abelanet Sara Castagnola Magda Chafai Anouar Khayachi Carole Gwizdek Frédéric Brau Emmanuel Deval Maura Francolini Barbara Bardoni Yann Humeau Viviana Trezza Stéphane Martin
author_facet	Marta Prieto Alessandra Folci Gwénola Poupon Sara Schiavi Valeria Buzzelli Marie Pronot Urielle François Paula Pousinha Norma Lattuada Sophie Abelanet Sara Castagnola Magda Chafai Anouar Khayachi Carole Gwizdek Frédéric Brau Emmanuel Deval Maura Francolini Barbara Bardoni Yann Humeau Viviana Trezza Stéphane Martin
author_sort	Marta Prieto
title	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
title_short	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
title_full	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
title_fullStr	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
title_full_unstemmed	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
title_sort	missense mutation of fmr1 results in impaired ampar-mediated plasticity and socio-cognitive deficits in mice
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/1f547051b6104cb2ae2a8dd5047148af
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Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

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