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Article

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

27 May 2014

Abstract excerpt

GGGGCC repeat expansions of C9orf72 represent the most common genetic variant of amyotrophic lateral sclerosis and frontotemporal degeneration, but the mechanism of pathogenesis is unclear. Recent reports have suggested that the transcribed repeat might form toxic RNA foci that sequester various RNA processing proteins. Consensus as to the identity of the binding partners is missing and whole neuronal proteome...

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PMID: 24866055
DOI: 10.1093/brain/awu120

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