Early Retinal Defects in Fmr1−/y Mice: Toward a Critical Role of Visual Dys-Sensitivity in the Fragile X Syndrome Phenotype?
نویسندگان
چکیده
Genetic Department, Centre Hospitalier Régional d’Orléans, Orléans, France, UMR7355, Immunologie et Neurogénétique Expérimentales et Moléculaires (INEM), Centre National de la Recherche Scientifique, Orléans, France, Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France, IRMB, University of Montpellier, INSERM, Montpellier, France, KeyObs, CRO Pharmacology, Orléans, France, Laboratory of Sensorial Biophysical, INSERM UMR1107 Equipe Biophysique Neurosensorielle, University of Clermont 1, Clermont-Ferrand, France
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Fragile X syndrome (FXS), the most common inherited from of autism and mental impairment, is caused by transcriptional silencing of the Fmr1 gene, resulting in the loss of the RNA-binding protein FMRP. Dendritic spines of cortical pyramidal neurons in affected individuals are abnormally immature and in Fmr1 knockout (KO) mice they are also abnormally unstable. This could result in defects in sy...
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Silencing of fragile X mental retardation 1 (FMR1) gene and loss of fragile X mental retardation protein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disability and autistic behaviors. FMRP is an mRNA-binding protein regulating neuronal translation of target mRNAs. Abnormalities in actin-rich dendritic spines are major neuronal features in FXS, but the...
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تاریخ انتشار 2018