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Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
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Brain Sci. 2019, 9(2), 39; https://doi.org/10.3390/brainsci9020039
Received: 12 January 2019 / Revised: 7 February 2019 / Accepted: 8 February 2019 / Published: 12 February 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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Abstract

More than ~200 CGG repeats in the 5′ untranslated region of the FMR1 gene results in transcriptional silencing and the absence of the FMR1 encoded protein, FMRP. FMRP is an RNA-binding protein that regulates the transport and translation of a variety of brain mRNAs in an activity-dependent manner. The loss of FMRP causes dysregulation of many neuronal pathways and results in an intellectual disability disorder, fragile X syndrome (FXS). Currently, there is no effective treatment for FXS. In this review, we discuss reactivation of the FMR1 gene as a potential approach for FXS treatment with an emphasis on the use of small molecules to inhibit the pathways important for gene silencing. View Full-Text
Keywords: fragile X syndrome; gene reactivation; RNA:DNA hybrid; FMRP; histone methylation; DNA methylation; FMR1; PRC2 fragile X syndrome; gene reactivation; RNA:DNA hybrid; FMRP; histone methylation; DNA methylation; FMR1; PRC2
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Kumari, D.; Gazy, I.; Usdin, K. Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome. Brain Sci. 2019, 9, 39.

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