Summary 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 ...
Stock M +21 more
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Abstract Pseudouridines are abundant mRNA modifications that can impact splicing, translation, and stability to tune gene expression. PUS7 is one of the major mRNA pseudouridine synthase whose dysregulation leads to neurodevelopmental disorders and cancer, underscoring the critical function of PUS7-dependent pseudouridines.
Rebecca Rodell +7 more
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Mottram TJ +3 more
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