Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1) in both males and females with a full mutation. The subsequent lack of FMR1 protein FMRP leads to the dysregulation of hundreds of proteins that affect synaptic plasticity and connectivity in the developing brain leading to intellectual disability (ID) and other clinical features of the syndrome. FXS is one of the most common hereditary mental retardation disorders, accounting for 40% percent of patients with X-linked mental retardation, and currently, there is no effective treatment against FXS, so drugs are limited to control associated symptoms. It is known to lie in the ability of the FMRP to bind to RNA and proteins. However, the exact biological mechanism responsible for the presentation of FXS is not known. This has led many researchers involved in neurological diseases to carry out various research projects on FXS.
Creative Biolabs provides our clients around the world with multiple in vitro disease models to support your research on the pathogenesis of FXS, the development of new drugs, and the screening of new targets.
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