Assembly defects of the human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
S. Sekulovski, P. Devant, S. Panizza, T. Gogakos, A. Pitiriciu, K. Heitmeier, E. P. Ramsay, M. Barth, C. Schmidt, S. Weitzer, T. Tuschl, F. Baas, J. Martinez, S. Trowitzsch
This study shows that TSEN assembly defects in PCH patients impair pre-tRNA processing by reducing cleavage activity despite normal endonuclease activity.
bioRxiv · Aug 3, 2020Biochemistry