Author

Dan P. Felsenfeld

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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

Open access Jul 2026

Structure-function dissection of huntingtin exon 1 identifies a PRD-driven modifier of neuronal toxicity in Huntington’s disease

These findings highlight the PRD’s contribution to HD toxicity and point to MKL2/MRTFB and the cytoskeleton and transcriptional coactivator MKL2/MRTFB and the cytoskeleton as candidate mediators.

R. Iennaco, Camilla Maffezzini, Simone Maestri et al. · bioRxiv · 1 citation