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

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. CGG-repeat expansion in the FMR1 gene leads to FMR1 silencing, loss-of-expression of the Fragile X Mental Retardation Protein (FMRP), and is a common cause of FXS...

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Udgivet i:Nat Commun
Main Authors: Prieto, Marta, Folci, Alessandra, Poupon, Gwénola, Schiavi, Sara, Buzzelli, Valeria, Pronot, Marie, François, Urielle, Pousinha, Paula, Lattuada, Norma, Abelanet, Sophie, Castagnola, Sara, Chafai, Magda, Khayachi, Anouar, Gwizdek, Carole, Brau, Frédéric, Deval, Emmanuel, Francolini, Maura, Bardoni, Barbara, Humeau, Yann, Trezza, Viviana, Martin, Stéphane
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7946954/
https://ncbi.nlm.nih.gov/pubmed/33692361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-21820-1
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