Nature Communications (Mar 2021)
Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice
- 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
Affiliations
- Marta Prieto
- Université Côte d’Azur, CNRS, IPMC
- Alessandra Folci
- Université Côte d’Azur, CNRS, IPMC
- Gwénola Poupon
- Université Côte d’Azur, CNRS, IPMC
- Sara Schiavi
- RomaTre University, Dept. Science
- Valeria Buzzelli
- RomaTre University, Dept. Science
- Marie Pronot
- Université Côte d’Azur, CNRS, IPMC
- Urielle François
- University of Bordeaux, CNRS, IINS
- Paula Pousinha
- Université Côte d’Azur, CNRS, IPMC
- Norma Lattuada
- Università degli Studi di Milano, Dept. of Medical Biotechnology and Translational Medicine
- Sophie Abelanet
- Université Côte d’Azur, CNRS, IPMC
- Sara Castagnola
- Université Côte d’Azur, CNRS, IPMC
- Magda Chafai
- Université Côte d’Azur, CNRS, IPMC
- Anouar Khayachi
- Université Côte d’Azur, CNRS, IPMC
- Carole Gwizdek
- Université Côte d’Azur, CNRS, IPMC
- Frédéric Brau
- Université Côte d’Azur, CNRS, IPMC
- Emmanuel Deval
- Université Côte d’Azur, CNRS, IPMC
- Maura Francolini
- Università degli Studi di Milano, Dept. of Medical Biotechnology and Translational Medicine
- Barbara Bardoni
- Université Côte d’Azur, Inserm, CNRS, IPMC
- Yann Humeau
- University of Bordeaux, CNRS, IINS
- Viviana Trezza
- RomaTre University, Dept. Science
- Stéphane Martin
- Université Côte d’Azur, Inserm, CNRS, IPMC
- DOI
- https://doi.org/10.1038/s41467-021-21820-1
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
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.
