A FAN1 point mutation associated with accelerated Huntington’s disease progression alters its PCNA-mediated assembly on DNA

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
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59324-x
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https://doi.org/10.1038/s41467-025-59324-x

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