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New Insights Into the Role of Cav2 Protein Family in Calcium Flux Deregulation in Fmr1-KO Neurons

Archive ouverte | Castagnola, Sara | CCSD

International audience. Fragile X syndrome (FXS), the most common form of inherited intellectual disability (ID) and a leading cause of autism, results from the loss of expression of the Fmr1 gene which encodes the ...

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

Archive ouverte | Drozd, Malgorzata | CCSD

International audience. Fragile X-associated tremor ataxia syndrome (FXTAS) is a rare disorder associated to the presence of the fragile X premutation, a 55-200 CGG repeat expansion in the 5' UTR of the FMR1 gene. T...

Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome

Archive ouverte | Maurin, Thomas | CCSD

International audience. The fragile X mental retardation protein (FMRP) is an RNA-binding protein involved in translational regulation of mRNAs that play key roles in synaptic morphology and plasticity. The function...

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