| Autor: |
Daman Kumari, Inbal Gazy, Karen Usdin |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Brain Sciences, Vol 9, Iss 2, p 39 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2076-3425 |
| DOI: |
10.3390/brainsci9020039 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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