Open access
Jul 2026
Human-specific sequence features in HTT exon 1 promote toxic misprocessing via splicing factor SRSF7
It is shown that the proline‑rich domain regulates HTT1a transcript production via mRNA structure and SRSF7 binding, revealing sequence context-dependent control of toxic HTT generation.
Camilla Maffezzini, R. Iennaco, Andrea Scolz et al.
· Nature Communications · 0 citations