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

ABSTRACT: Our work defines the molecular principles of intron excision in humans and provides evidence that destabilized TSEN contributes to a PCH phenotype by impairing tRNA splicing at the intron-excision step.

ORGANISM(S): Homo sapiens

PROVIDER: GSE151236 | GEO | 2021/06/18

REPOSITORIES: GEO