BiochemistrybioRxiv
Assembly defects of the human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
S. Sekulovski, P. Devant, S. Panizza…·S. Trowitzsch
This study shows that TSEN assembly defects in PCH patients impair pre-tRNA processing by reducing cleavage activity despite normal endonuclease activity.
DOI 10.1038/s41467-021-25870-3