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Wednesday, 28 June 2017
Fragile-X Syndrome

Fragile X syndrome, FraX or FXS, is a frequent cause (In fact, the most important inherited form) of mental retardation resulting from the absence of the Fragile X Mental Retardation Protein (FMRP), encoded by the fmr1.
FMRP contains RNA-binding motifs (KH and RGG box), and both a nuclear location signal (NLS) and a nuclear export signal (NES). The presence of these motifs suggested that FMRP might have a function in transport of the RNA from the nucleus to the cytoplasm. Some studies show that FMRP could be involved in the translation of some mRNA, mainly at synapses. gene at Xq27.3. The disease is caused by an expanded CGG repeat in the 5’ untranslated region.

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Molecular Modeling
FMRP Function and Gene Transcription Regulation
 
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