Fragile X Syndrome: From molecular pathology to therapy
| Autor: | Thomas Maurin, Barbara Bardoni, Samantha Zongaro |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Cognitive Neuroscience RNA-binding protein Biology Fragile X Mental Retardation Protein Behavioral Neuroscience Polysome microRNA Translational regulation medicine Humans Gene silencing Molecular Targeted Therapy Cytoskeleton Models Genetic Translation (biology) medicine.disease Phenotype nervous system diseases Cell biology Fragile X syndrome MicroRNAs Oxidative Stress Neuropsychology and Physiological Psychology Gene Expression Regulation Fragile X Syndrome |
| Zdroj: | Neuroscience & Biobehavioral Reviews. 46:242-255 |
| ISSN: | 0149-7634 |
| Popis: | Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability due to the silencing of the FMR1 gene encoding FMRP (Fragile X Mental Retardation Protein), an RNA-binding protein involved in different steps of RNA metabolism. Of particular interest is the key role of FMRP in translational regulation. Since the first functional characterizations of FMRP, its role has been underlined by its association with actively translating polyribosomes. Furthermore, a plethora of mRNA targets of FMRP have been identified. In the absence of FMRP the deregulation of translation/transport/stability of these mRNAs has a cascade effect on many pathways, resulting into the final phenotype. We review here a set of targets of FMRP (mRNAs and proteins) that may have an impact on the FXS phenotype by deregulating some key cellular processes, such as translation, cytoskeleton remodeling and oxidative stress. The manipulation of these abnormal pathways by specific drugs may represent new therapeutic opportunities for FXS patients. |
| Databáze: | OpenAIRE |
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