Article

Structural and molecular basis of FAN1 defects in promoting Huntington's disease

2024-11-04

Abstract excerpt

<title>Abstract</title> <p>FAN1 is a DNA dependent nuclease whose proper function is essential for maintaining human health. For example, a genetic variant in FAN1, Arg507 to His hastens onset of Huntington’s disease, a repeat expansion disorder for which there is no cure. How the Arg507His mutation affects FAN1 structure and enzymatic function is unknown. Using cryo-EM and biochemistry, we have discovered that F...

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Literature Corpus work: 05df59e0-c07e-59b6-aeb6-ec6b4f6ab3c9
DOI: 10.21203/rs.3.rs-5205153/v1

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