Article

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

2024-10-07

Abstract excerpt

<h4>ABSTRACT</h4> 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 FAN1 argin...

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Literature Corpus work: a658a64b-fee6-5980-9d98-0d41cb8c1a6f
DOI: 10.1101/2024.10.07.617005

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