Article

<i>Pus7</i> mutation links tRNA dysregulation to aggressive behavior through activation of the integrated stress response and glycolytic reprogramming

2025-05-12

Abstract excerpt

<h4>Summary</h4> Pseudouridine (Ψ) is a prevalent RNA modification found in multiple RNA species. It is deposited by Ψ synthases (Pus) and it can stabilize RNA structures. Patients carrying alterations in the Pus7 gene suffer from developmental delay, intellectual disability, microcephaly, hyperactivity and increased aggression levels. Here we show that the Pus7 mutation in human patient cells and in a Drosoph...

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Literature Corpus work: f29fdf5a-d174-5ed1-9e9e-bf5aec10c5f6
DOI: 10.1101/2025.05.12.653498

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