The Fragile X Syndrome, the most common form of inherited mental retardation, is due to the absence of FMRP (Fragile X Mental Retardation Protein). FMRP is a quasi ubiquitous protein with high expression levels in neurones and spermatogonia. It is endowed of a nuclear localisation signal (NLS), a nuclear export signal (NES), RNA binding motives...
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March 7, 2008 (v1)PublicationUploaded on: December 4, 2022
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July 15, 2008 (v1)Journal article
The Fragile X Mental Retardation-Related 1 (FXR1) gene belongs to the Fragile X Related family, that also include the Fragile X Mental retardation (FMR1) gene involved in Fragile X syndrome, the most common form of inherited mental retardation. While the absence of FMRP impairs cognitive functions, inactivation of FXR1 has been reported to have...
Uploaded on: December 4, 2022 -
2007 (v1)Journal article
Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of expression of the Fragile X Mental Retardation Protein (FMRP), an RNA binding protein with high specificity for G-quartet RNA structure. FMRP is involved in several steps of mRNA metabolism: nucleocytoplasmic trafficking, translational control...
Uploaded on: February 28, 2023 -
January 20, 2009 (v1)Journal article
Fragile X syndrome, the most frequent form of inherited mental retardation, is due to the absence of Fragile X Mental Retardation Protein (FMRP), an RNA-binding protein involved in several steps of RNA metabolism. To date, two RNA motifs have been found to mediate FMRP/RNA interaction, the G-quartet and the "kissing complex," which both induce...
Uploaded on: December 3, 2022