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Review

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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Author to whom correspondence should be addressed.
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)
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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MDPI and ACS Style

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. https://doi.org/10.3390/brainsci9020039

AMA Style

Kumari D, Gazy I, Usdin K. Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome. Brain Sciences. 2019; 9(2):39. https://doi.org/10.3390/brainsci9020039

Chicago/Turabian Style

Kumari, Daman, Inbal Gazy, and Karen Usdin. 2019. "Pharmacological Reactivation of the Silenced FMR1 Gene as a Targeted Therapeutic Approach for Fragile X Syndrome" Brain Sciences 9, no. 2: 39. https://doi.org/10.3390/brainsci9020039

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