A FAN1 point mutation associated with accelerated Huntington’s disease progression alters its PCNA-mediated assembly on DNA
Abstract FAN1 is an endo- and exo-nuclease involved in DNA and interstrand crosslink repair. Genome-wide association studies of people with Huntington’s disease revealed a strong association between the FAN1 R507H mutation and early disease onset, however the underlying mechanism(s) remains unclear....
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| Main Authors: | Jonas Aretz, Gayathri Jeyasankar, Anna Salerno-Kochan, Maren Thomsen, Gabriel Thieulin-Pardo, Tasir Haque, Edith Monteagudo, Dan Felsenfeld, Michael Finley, Thomas F. Vogt, Julien Boudet, Brinda C. Prasad |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-05-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-025-59324-x |
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