Article

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

2024-10-11

Abstract excerpt

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. FAN1 has previously been implicated in modulating triplet repeat expansion in a PCNA dependent manner. To examine the role of...

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Literature Corpus work: 453ca95c-2270-5fc2-95b3-5e1e3d84560d
DOI: 10.1101/2024.10.09.617442

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