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Article

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model

6 Mar 2018

Abstract excerpt

Large expansions of hexanucleotide GGGGCC (G4C2) repeats (hundreds to thousands) in the first intron of the chromosome 9 open reading frame 72 (C9orf72) locus are the strongest known genetic factor associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Different hypotheses exist about the underlying disease mechanism including loss of function by haploinsufficiency, toxicity arising...

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PMID: 29528390
DOI: 10.1093/hmg/ddy083

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