Repeat instability as the basis for human diseases and as a potential target for therapy

Nature Reviews Molecular Cell Biology 11, 165-170 (March 2010) | doi:10.1038/nrm2854

Arturo López Castel1, John D. Cleary1,2 & Christopher E. Pearson1,2
1. Arturo López Castel, John D. Cleary and Christopher E. Pearson are at the Program of Genetics & Genome Biology, The Hospital for Sick Children, 101 College Avenue, East Tower 15-312, TMDT Toronto, Ontario, Canada, M5G 1L7.
2. John D. Cleary and Christopher E. Pearson are also at the Department of Molecular Genetics, University of Toronto, Canada.

Keywords: Expansions of repetitive DNA sequences, neurological, neuromuscular diseases, DNA replication, repair, recombination, transcription, epigenetics, therapeutic strategies,Huntington's disease (HD), myotonic dystrophy (DM1), fragile X syndrome type A (FRAXA), Friedreich's ataxia (FRDA), spinocerebellar ataxias (SCAs)