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- W2126892015 abstract "DNA mismatch repair is a conserved antimutagenic pathway that maintains genomic stability through rectification of DNA replication errors and attenuation of chromosomal rearrangements. Paradoxically, mutagenic action of mismatch repair has been implicated as a cause of triplet repeat expansions that cause neurological diseases such as Huntington disease and myotonic dystrophy. This mutagenic process requires the mismatch recognition factor MutSβ and the MutLα (and/or possibly MutLγ) endonuclease, and is thought to be triggered by the transient formation of unusual DNA structures within the expanded triplet repeat element. This review summarizes the current knowledge of DNA mismatch repair involvement in triplet repeat expansion, which encompasses in vitro biochemical findings, cellular studies, and various in vivo transgenic animal model experiments. We present current mechanistic hypotheses regarding mismatch repair protein function in mediating triplet repeat expansions and discuss potential therapeutic approaches targeting the mismatch repair pathway." @default.
- W2126892015 created "2016-06-24" @default.
- W2126892015 creator A5022973306 @default.
- W2126892015 creator A5025998924 @default.
- W2126892015 creator A5040500435 @default.
- W2126892015 creator A5062765373 @default.
- W2126892015 date "2015-06-02" @default.
- W2126892015 modified "2023-09-26" @default.
- W2126892015 title "DNA Triplet Repeat Expansion and Mismatch Repair" @default.
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