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• W2036338927 abstract "Fragile X syndrome is the result of transcriptional suppression of the gene FMR1 as a result of a trinucleotide repeat expansion mutation. The normal function of the FMR1 protein (FMRP) and the mechanism by which its absence leads to mental retardation are unknown. Ribonucleoprotein particle (RNP) domains were identified within FMRP, and RNA was shown to bind in stoichiometric ratios, which suggests that there are two RNA binding sites per FMRP molecule. FMRP was able to bind to its own message with high affinity (dissociation constant = 5.7 nM) and interacted with approximately 4 percent of human fetal brain messages. The absence of the normal interaction of FMRP with a subset of RNA molecules might result in the pleiotropic phenotype associated with fragile X syndrome." @default.
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• W2036338927 date "1993-10-22" @default.
• W2036338927 modified "2023-10-12" @default.
• W2036338927 title "<i>FMR1</i> Protein: Conserved RNP Family Domains and Selective RNA Binding" @default.
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• W2036338927 doi "https://doi.org/10.1126/science.7692601" @default.
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