IndraLab

Statements

Mutated ATXN3 activates DNA Damage. 6 / 6
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"Discovery of the mechanism by which mutant ATXN3 induces DNA damage and amplifies the pro death signaling pathways provides a molecular basis for neurodegeneration due to PNKP inactivation in SCA3, and for the first time offers a possible approach to treatment."
25590633
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"Mutant ATXN3 induces genomic DNA damage in SCA3."
25590633
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"Knockdown of normal ATXN3 or PNKP, or expression of mutant ATXN3 increased the accumulation of DNA damage and persistent activation of the ATM and p53 dependent DNA repair pathway, suggesting ATXN3 may be a key regulator of PNKP dependent DNA repair."
31669734
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"In conclusion, our current study provides compelling evidence of how mutant ATXN3 impedes the enzymatic activity of PNKP, and induces DNA damage that manifests with activation of the pro apoptotic signaling pathways in SCA3."
25590633
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"Recent studies have shown elevated levels of DNA damage and strand breaks in peripheral blood lymphocytes in SCA3 patients [XREF_BIBR], indicating that mutant ATXN3 can induce DNA damage."
25590633
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"Since mutant ATXN3 interacts with and inactivates PNKP, we next investigated whether ectopic expression of mutant ATXN3 induces DNA damage."
25590633