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BUZZELLI , Valeria

Last name: BUZZELLI

First name: Valeria

December 14, 2020 (v1)

Publication

Metadata-only

Abnormal AMPAR-mediated synaptic plasticity, cognitive and autistic-like behaviors in a missense Fmr1 mutant mouse model of Fragile X syndrome

Prieto, Marta Folci, Alessandra Poupon, Gwénola

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. FXS is usually caused by a CGG-repeat expansion in the FMR1 gene leading to its silencing and the loss-of-expression of the Fragile X Mental Retardation Protein (FMRP). Missense mutations were also identified...

Uploaded on: December 4, 2022
March 10, 2021 (v1)

Journal article

Metadata-only

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

Prieto, Marta Folci, Alessandra Poupon, Gwénola

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. Missense mutations in the FMR1 gene were...

Uploaded on: December 4, 2022