Journal
NATURE REVIEWS MOLECULAR CELL BIOLOGY
Volume 11, Issue 3, Pages 165-170Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrm2854
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Funding
- Canadian Institutes of Health Research Funding Source: Medline
- NINDS NIH HHS [U54NS48843] Funding Source: Medline
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [U54NS048843] Funding Source: NIH RePORTER
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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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