Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1980074 | DNA Repair | 2015 | 10 Pages |
Abstract
DNA repair normally protects the genome against mutations that threaten genome integrity and thus cell viability. However, growing evidence suggests that in the case of the Repeat Expansion Diseases, disorders that result from an increase in the size of a disease-specific microsatellite, the disease-causing mutation is actually the result of aberrant DNA repair. A variety of proteins from different DNA repair pathways have thus far been implicated in this process. This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion.
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Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Xiao-Nan Zhao, Karen Usdin,