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Review
. 2010 Mar;11(3):165-70.
doi: 10.1038/nrm2854.

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

Arturo López Castel  1 , John D Cleary, Christopher E Pearson
Affiliations
Review

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

Arturo López Castel et al. Nat Rev Mol Cell Biol. 2010 Mar.

Abstract

Expansions of repetitive DNA sequences cause numerous human neurological and neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease progression and severity. As pathogenesis is connected to repeat length, a potential therapeutic avenue is to modulate disease by manipulating repeat expansion size--targeting DNA, the root-cause of symptoms. How repeat instability is mediated by DNA replication, repair, recombination, transcription and epigenetics may explain its contribution to pathogenesis and give insights into therapeutic strategies to block expansions or induce contractions.

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References

    1. Science. 2009 May 29;324(5931):1213-6 - PubMed
    1. Hum Mol Genet. 2010 Apr 15;19(8):1399-412 - PubMed
    1. Nat Rev Genet. 2005 Oct;6(10):729-42 - PubMed
    1. Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3467-72 - PubMed
    1. Nucleic Acids Res. 2004 May 20;32(9):2865-72 - PubMed

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