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

2020-04-19

Abstract excerpt

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 in FXS patients, including the recurrent FMRP-R138Q mutation. To inve...

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Literature Corpus work
a9fde285-b632-595e-931a-41bad83ad517
DOI
10.1101/2020.04.19.048819
Open publication

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Abnormal AMPAR-mediated synaptic plasticity, cognitive and autistic-like behaviors in a missense <i>Fmr1</i> mutant mouse model of Fragile X syndromeDOI 10.1101/2020.04.19.048819
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