Fragile X Tremor/Ataxia Syndrome: Blame the Messenger!

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Fragile X Tremor/Ataxia Syndrome: Blame the Messenger! Maurice S. Swanson, Harry T. Orr Neuron Volume 55, Issue 4, Pages 535-537 (August 2007) DOI: 10.1016/j.neuron.2007.07.032 Copyright © 2007 Elsevier Inc. Terms and Conditions

Figure 1 FMR1 mRNA and Its Relationship to FRAXA and FXTAS FRAXA (lower gray oval) is due to the loss of FMR1 expression and the resulting absence of its gene product FMRP, an RNA-binding protein involved in regulating translation at the synapse. In contrast, FXTAS (upper gray oval) is caused by overexpression of premutant FMR1 mRNA (center), which results in the sequestration of several RNA-binding proteins, including Pur α and the heterodimer hnRNP A2/CUGBP1, which are normally required for transcription, splicing, mRNA trafficking, and translation. Neuron 2007 55, 535-537DOI: (10.1016/j.neuron.2007.07.032) Copyright © 2007 Elsevier Inc. Terms and Conditions