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• W2073466970 abstract "Fragile X syndrome (FXS) – the leading cause of inherited mental retardation – is an X-linked disease caused by loss of expression of the FMR1 (fragile X mental retardation 1) gene. In addition to impairment of higher-cognitive functions, FXS patients show a variety of physical and other mental abnormalities. FMRP, the protein encoded by the FMR1 gene, is thought to play a key role in translation, trafficking and targeting of mRNA in neurons. To better understand FMRP's functions, the protein partners and mRNA targets that interact with FMRP have been sought. These and functional studies have revealed links with processes such as cytoskeleton remodelling via the RhoGTPase pathway and mRNA processing via the RNA interference pathway. In this review, we focus on recent insights into the function of FMRP and speculate on how the absence of FMRP might cause the clinical phenotypes seen in FXS patients. Finally, we explore potential therapies for FXS." @default.
• W2073466970 created "2016-06-24" @default.
• W2073466970 creator A5006759989 @default.
• W2073466970 creator A5013587879 @default.
• W2073466970 creator A5069985497 @default.
• W2073466970 creator A5073522238 @default.
• W2073466970 date "2006-04-21" @default.
• W2073466970 modified "2023-09-25" @default.
• W2073466970 title "The fragile X syndrome: exploring its molecular basis and seeking a treatment" @default.
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