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Changes in Acute Stress Response in Cells of Patients Affected with Fragile X Syndrome Public

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Fragile X Syndrome is characterized by loss of function of FMRP, which causes autism spectrum disorders and mental retardation. Stress granules (SGs) are dynamic aggregations of stalled mRNA and protein formed during the cellular stress response to halt their translation and promote cell survival. FMRP reversibly halts translation in cells, and loss of function may result in upregulated translation in FXS-affected cells. Therefore, we hypothesized that FXS cells would form SGs at a faster rate, and/or at a lower level of environmental stressor, than wild type cells. We used fluorescent microscopy to quantify SG formation in wild type and FXS-affected human B lymphocytes. Our results suggest that loss of FMRP does not contribute to higher stress sensitivity in FXS-affected cells.

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  • E-project-051620-224912
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  • 2020
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  • 2020-05-16
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