Publications by authors named "Mika Nakamoto-Kinoshita"
Article Synopsis
- Fragile X syndrome, an inherited intellectual disability, is linked to the loss of the fragile X mental retardation protein (FMRP), which mainly helps regulate protein translation crucial for synaptic function.
- Research identifies FMRP as a chromatin-binding protein that plays a role in the DNA damage response (DDR) by binding to chromatin both in vitro and in vivo.
- FMRP's involvement in the DDR is particularly significant during mouse spermatogenesis, suggesting it regulates genomic stability and may influence developmental processes related to fragile X syndrome.
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of FMR1, only a single missense mutation (p.
View Article and Find Full Text PDFFragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, results from the transcriptional silencing of FMR1 and loss of the mRNA translational repressor protein fragile X mental retardation protein (FMRP). Patients with FXS exhibit changes in neuronal dendritic spine morphology, a pathology associated with altered synaptic function. Studies in the mouse model of fragile X have shown that loss of FMRP causes excessive synaptic protein synthesis, which results in synaptic dysfunction and altered spine morphology.
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