Benvenuti nell'Anagrafe della Ricerca d'Ateneo
La valutazione delle attività di ricerca che si svolgono nelle università ha assunto un'importanza rilevante sia per l'intero sistema universitario sia all'interno di ogni singolo ateneo. Roma Tre si è quindi dotata di idonei strumenti informativi in grado di supportare al meglio le azioni di monitoraggio e di valutazione delle attività di ricerca svolte nei propri dipartimentied ha realizzato una Anagrafe della Ricerca di Ateneo.
EnglishFragile 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. Missense mutations in the FMR1 gene were also identified in FXS patients, including the recurrent FMRP-R138Q mutation. To investigate the mechanisms underlying FXS caused by this mutation, we generated a knock-in mouse model (Fmr1R138Q) expressing the FMRP-R138Q protein. We demonstrate that, in the hippocampus of the Fmr1R138Q mice, neurons show an increased spine density associated with synaptic ultrastructural defects and increased AMPA receptor-surface expression. Combining biochemical assays, high-resolution imaging, electrophysiological recordings, and behavioural testing, we also show that the R138Q mutation results in impaired hippocampal long-term potentiation and socio-cognitive deficits in mice. These findings reveal the functional impact of the FMRP-R138Q mutation in a mouse model of FXS.
Prieto, M., Folci, A., Poupon, G., Schiavi, S., Buzzelli, V., Pronot, M., et al. (2021). Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice. NATURE COMMUNICATIONS, 12(1), 1557 [10.1038/s41467-021-21820-1].
| Titolo: | Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice | |
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| Data di pubblicazione: | 2021 | |
| Rivista: | ||
| Citazione: | Prieto, M., Folci, A., Poupon, G., Schiavi, S., Buzzelli, V., Pronot, M., et al. (2021). Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice. NATURE COMMUNICATIONS, 12(1), 1557 [10.1038/s41467-021-21820-1]. | |
| Handle: | http://hdl.handle.net/11590/385977 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| Prieto et al Nat Comm 2021.pdf | Versione Editoriale (PDF) | DRM non definito | Open Access Visualizza/Apri |
http://hdl.handle.net/11590/385977
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