Articles with "nucleotide repeat" as a keyword



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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

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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… read more here.

Keywords: translation c9orf72; rps25 required; nucleotide repeat; ran translation ... See more keywords
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The effects of molecular crowding and CpG hypermethylation on DNA G-quadruplexes formed by the C9orf72 nucleotide repeat expansion

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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… read more here.

Keywords: dna; hypermethylation; repeat expansion; nucleotide repeat ... See more keywords