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Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

15 Feb 2019

Abstract excerpt

A G 4 C 2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlying c9FTD/ALS include toxicity from sense G 4 C 2 and antisense G 2 C 4 repeat-containing RNA, and from dipeptide repeat (DPR) proteins unconventionally translated from these RNA products....

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PMID: 30767771
DOI: 10.1186/s13024-019-0310-z

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