ALS Compendium

Title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

Year Published: 2011

Observation: GGGGCC repeat affects C9ORF72 expression in a transcript specific manner. The GGGGCC repeat forms nuclear RNA foci in affected CNS regions of mutation carriers

Comment: The GGGGCC repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci

Citation: DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., … Rademakers, R. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72(2), 245–56. doi:10.1016/j.neuron.2011.09.011

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