Bañez-Coronel et al. investigated the pathogenic mechanism of expanded CAG triplet repeats in the huntingtin gene. They focused on repeats of more than 40 triplets that are associated with complete penetrance of the disease. Expression of these repeats corresponded with an increase in 21-nucleotide-long CAG-repeat small RNAs, whichare processed in a Dicer-dependent manner and have neurotoxic activity. These RNAs were able to repress the expression of CTG-containing genes that are down-regulated in Huntington's disease.
ORIGINAL RESEARCH PAPER
Bañez-Coronel, M. et al. A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet. 23 Feb 2012 (doi:10.1371/journal.pgen.1002481)
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Stower, H. Small RNAs in Huntington's disease. Nat Rev Genet 13, 223 (2012). https://doi.org/10.1038/nrg3212
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DOI: https://doi.org/10.1038/nrg3212
