Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

Introns of human transfer RNA precursors (pre-tRNAs) are excised by the tRNA splicing endonuclease TSEN in complex with the RNA kinase CLP1. Mutations in TSEN/CLP1 occur in patients with pontocerebellar hypoplasia (PCH), however, their role in the disease is unclear. Here, we show that intron excisi...

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Detalles Bibliográficos
Autores principales: Sekulovski, Samoil, Devant, Pascal, Panizza, Silvia, Gogakos, Tasos, Pitiriciu, Anda, Heitmeier, Katharina, Ramsay, Ewan Phillip, Barth, Marie, Schmidt, Carla, Tuschl, Thomas, Baas, Frank, Weitzer, Stefan, Martinez, Javier, Trowitzsch, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479045/
https://www.ncbi.nlm.nih.gov/pubmed/34584079
http://dx.doi.org/10.1038/s41467-021-25870-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8479045/
https://www.ncbi.nlm.nih.gov/pubmed/34584079
http://dx.doi.org/10.1038/s41467-021-25870-3

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