Article
Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants.
Nucleic acids research - 20 Mar 2025
Vasquez Carlos A, Osgood Nicola R B, Zepeda Marcanthony U, Sandel Dominika K, Cowan Quinn T, Peiris Malalage N, Donoghue Daniel J, Komor Alexis C
Abstract excerpt
Functional characterization of genetic variants has the potential to advance the field of precision medicine by enhancing the efficacy of current therapies and accelerating the development of new approaches to combat genetic diseases. MUTYH is a DNA repair enzyme that recognizes and repairs oxidatively damaged guanines [8-oxoguanine (8-oxoG)] mispaired with adenines (8-oxoG·A). While some mutations in the MUTYH...
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