The role of R-loops in the pathology of trinucleotide expansion diseases

Matthias Groh, Natalia Gromak (Supervisor), Thesis, ORA Oxford University Research Archive

Friedreich ataxia and fragile X syndrome are among 40 human diseases associated with expansion of repeated DNA sequences. In both disorders repeat expansion leads to gene silencing, the molecular mechanism of which is not well understood.

  The role of R-loops in the pathology of trinucleotide expansion diseases