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• W1979762144 startingPage "949" @default.
• W1979762144 abstract "Significance Although loss of fragile X mental retardation protein 1 (FMRP) causes a wide range of abnormalities in both pre- and postsynaptic compartments, the link between various FMRP functions and specific phenotypes in patients has been difficult to establish. Through the study of a novel fragile X mental retardation 1 ( FMR1 ) missense mutation, c.413G > A (R138Q), recently identified in a patient with a partial fragile X syndrome (FXS) phenotype (intellectual disability and seizures), we found that pre- and postsynaptic functions of FMRP are independent. Our findings suggest that loss of a presynaptic, translation-independent function of FMRP is linked with a specific subset of FXS clinical features. Our study thus provides a major step in teasing out the domain-specific functions of FMRP in pre- and postsynaptic compartments, and their contribution to various elements of FXS pathophysiology." @default.
• W1979762144 created "2016-06-24" @default.
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• W1979762144 date "2015-01-05" @default.
• W1979762144 modified "2023-10-12" @default.
• W1979762144 title "Independent role for presynaptic FMRP revealed by an <i>FMR1</i> missense mutation associated with intellectual disability and seizures" @default.
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• W1979762144 doi "https://doi.org/10.1073/pnas.1423094112" @default.
• W1979762144 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4313821" @default.
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