Marta Biagioli

This study shows that CHD8 suppression reduces H3K36me3 levels and alters alternative splicing of ~2000 genes, linking CHD8 to RNA processing and ASD.

The paper shows that CAG repeat expansion in Huntington's disease disrupts splicing, reducing circular RNA production and affecting neural progenitors and striatum before symptoms appear.

This study investigates the developmental effects of hypomorphic mutations in the mouse HD gene orthologue, revealing varying degrees of lethality and developmental abnormalities depending on mutation severity.