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• W1998846172 abstract "Regulation of post-transcriptional gene expression is a cellular process that is accomplished through the activity of multiple mRNP (messenger RiboNucleoProtein) complexes which are composed of mRNA-binding proteins and RNA molecules interacting with those proteins. The specificity of these interactions is mediated by the ability of the RNA-binding proteins to precisely recognize and bind RNA sequences or structures. Alterations of their function may have some dramatic consequences, resulting in different pathologies. An increasing body of data is emerging showing the impact of a G-quadruplex forming structure in the maturation and expression of some RNA molecules. We review here the role of the G-quadruplex RNA structure in the regulation of translation and splicing, when it interacts with two RNA-binding proteins: FMRP (Fragile X Mental Retardation Protein) and FMR2P (Fragile X Mental Retardation 2 protein). Impaired expression of these proteins causes two forms of intellectual disability: the Fragile X Mental Retardation syndrome (FXS) and the FRAXE-associated mental retardation (FRAXE), respectively. FMRP is involved in different steps of RNA metabolism and, in particular, in translational regulation. FMR2P has been initially described as a transcription factor and we recently showed also its role in regulation of alternative splicing. By the study of the functional significance of the interaction of both FMRP and FMR2P with a G-quadruplex forming RNA we were able to show an impact of this structure in translational regulation and also in splicing, behaving as an Exonic Splicing Enhancer." @default.
• W1998846172 created "2016-06-24" @default.
• W1998846172 creator A5013587879 @default.
• W1998846172 creator A5074210810 @default.
• W1998846172 date "2010-08-01" @default.
• W1998846172 modified "2023-10-18" @default.
• W1998846172 title "The role of G-quadruplex in RNA metabolism: Involvement of FMRP and FMR2P" @default.
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• W1998846172 doi "https://doi.org/10.1016/j.biochi.2010.05.018" @default.
• W1998846172 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20570707" @default.
• W1998846172 hasPublicationYear "2010" @default.
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