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Published in 2019 at "Nature neuroscience"
DOI: 10.1038/s41593-019-0455-7
Abstract: Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We…
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Keywords:
translation c9orf72;
rps25 required;
nucleotide repeat;
ran translation ... See more keywords
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Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-02041-4
Abstract: A nucleotide repeat expansion (NRE), (G4C2)n, located in a classically noncoding region of C9orf72 (C9), is the most common genetic mutation associated with ALS/FTD. There is increasing evidence that nucleic acid structures formed by the…
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Keywords:
dna;
hypermethylation;
repeat expansion;
nucleotide repeat ... See more keywords