Outputs (2)

Destabilization of mutated human PUS3 protein causes intellectual disability (2022)
Journal Article
Lin, T., Smigiel, R., Kuzniewska, B., Chmielewska, J. J., Kosińska, J., Biela, M., …Glatt, S. (2022). Destabilization of mutated human PUS3 protein causes intellectual disability. Human Mutation: Variation, Informatics and Disease, 43(12), 2063-2078. https://doi.org/10.1002/humu.24471

Pseudouridine (Ψ) is an RNA base modification ubiquitously found in many types of RNAs. In humans, the isomerization of uridine is catalyzed by different stand-alone pseudouridine synthases (PUS). Genomic mutations in the human pseudouridine synthase... Read More about Destabilization of mutated human PUS3 protein causes intellectual disability.

ACEing premature codon termination using anticodon-engineered sup-tRNA-based therapy (2022)
Journal Article
Lin, T., & Glatt, S. (2022). ACEing premature codon termination using anticodon-engineered sup-tRNA-based therapy. Molecular Therapy - Nucleic Acids, 29, 368-369. https://doi.org/10.1016/j.omtn.2022.07.019