Article
Nuclear localized C9orf72-associated arginine-containing dipeptides exhibit age-dependent toxicity in C. elegans.
Human molecular genetics - 15 Dec 2017
Rudich Paige, Snoznik Carley, Watkins Simon C, Monaghan John, Pandey Udai Bhan, Lamitina S Todd
Abstract excerpt
A hexanucleotide repeat expansion mutation in the C9orf72 gene represents a prevalent genetic cause of several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Non-canonical translation of this repeat gives rise to several distinct dipeptide protein species that could play pathological roles in disease. Here, we show in the model system Caenorhabditis elegans...
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