Article

Cryo-EM structure of human Nup155 reveals the biochemical basis for atrial fibrillation linked genetic mutation R391H

2021-10-06

Abstract excerpt

<h4>Summary</h4> Human nuclear pore complexes are composed of ∼32 distinct nucleoporins to facilitate bidirectional nucleo-cytoplasmic transport. Many of them have been associated with various human diseases such as an inherited mutation (R391H) in Nup155 is shown as the clinical cause of atrial fibrillation and sudden cardiac arrest. Due to the lack of structural knowledge and mechanistic insights, the roles of...

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Literature Corpus work: ef57eef8-52f9-5cb3-ae52-670b943f28e6
DOI: 10.1101/2021.10.05.463194

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