Abstract：
:More than fifteen genetic diseases, including Huntington's disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progression. DNA damage and base excision repair (BER) are involved in repeat instability and might contribute to the tissue selectivity of the process. In this review, we will discuss the mechanisms of trinucleotide repeat instability, focusing more specifically on the role of BER.
journal_name
Genes (Basel)journal_title
Genesauthors
Goula AV,Merienne Kdoi
10.3390/genes4030375subject
Has Abstractpub_date
2013-07-25 00:00:00pages
375-87issue
3issn
2073-4425pii
genes4030375journal_volume
4pub_type
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