Article
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Neuron - 20 Feb 2013
Ash Peter E A, Bieniek Kevin F, Gendron Tania F, Caulfield Thomas, Lin Wen-Lang, Dejesus-Hernandez Mariely, van Blitterswijk Marka M, Jansen-West Karen, Paul Joseph W, Rademakers Rosa, Boylan Kevin B, Dickson Dennis W, Petrucelli Leonard
Abstract excerpt
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological overlap. Hexanucleotide (GGGGCC) repeat expansions in a noncoding region of C9ORF72 are the major genetic cause of FTD and ALS (c9FTD/ALS). The RNA structure of GGGGCC repeats renders these transcripts susceptible to an unconventional mechanism of...
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