Destabilization of mutated human PUS3 protein causes intellectual disability

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 3 gene (PUS3) have been identified in patients wi...

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Detalles Bibliográficos
Autores principales: Lin, Ting‐Yu, Smigiel, Robert, Kuzniewska, Bozena, Chmielewska, Joanna J., Kosińska, Joanna, Biela, Mateusz, Biela, Anna, Kościelniak, Anna, Dobosz, Dominika, Laczmanska, Izabela, Chramiec‐Głąbik, Andrzej, Jeżowski, Jakub, Nowak, Jakub, Gos, Monika, Rzonca‐Niewczas, Sylwia, Dziembowska, Magdalena, Ploski, Rafał, Glatt, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092196/
https://www.ncbi.nlm.nih.gov/pubmed/36125428
http://dx.doi.org/10.1002/humu.24471

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