IndraLab

Statements


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"Supporting this hypothesis, a missense mutation (I304N), known to alter the KH2 mediated RNA binding properties of FMRP, abolishes the localization of human FMRP ISO6 to Cajal bodies."

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"The I304N mutation causes defective KH2 mediated RNA binding in neurons, and decreased FMRP levels, particularly in younger animals."

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"Chemical shift perturbation data confirm that RNA binding is mediated by the canonical RNA binding grooves of KH2 and KH3."

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"These data suggest that loss of FMRP function, particularly in KH2 mediated RNA binding and in synaptic plasticity, play critical roles in pathogenesis of the Fragile X Syndrome and establish a new model for studying the disorder."