Associated Papers
The molecular basis of tRNA selectivity by human pseudouridine synthase 3.
Lin TY et al.
Molecular Cell, 2024
The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Keszthelyi TM et al.
Biologia Futura, 2023
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Nøstvik M et al.
Clinical Genetics, 2021
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
de Paiva ARB et al.
Neurology. Genetics, 2019
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