Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich’s ataxia: DNA triplexes and RNA/DNA hybrids
Sign Up to like & getrecommendations! Published in 2020 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkaa665
Abstract: Abstract Expansion of the GAA/TTC repeats in the first intron of the FXN gene causes Friedreich’s ataxia. Non-canonical structures are linked to this expansion. DNA triplexes and R-loops are believed to arrest transcription, which results… read more here.
Keywords: friedreich ataxia; dna triplexes; gaa ttc; dna ... See more keywords
GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform one
Sign Up to like & getrecommendations! Published in 2018 at "Nucleic Acids Research"
DOI: 10.1093/nar/gky143
Abstract: Abstract DNA repeat expansion underlies dozens of progressive neurodegenerative disorders. While the mechanisms driving repeat expansion are not fully understood, increasing evidence suggests a central role for DNA mismatch repair. The mismatch repair recognition complex… read more here.
Keywords: repeat expansion; mlh3 isoform; gaa ttc; expansion ... See more keywords