Marta Giannini

This study investigates how SETX mutations in ALS4 lead to RNA dysregulation and neuronal dysfunction through TGF-β signaling activation and R-loop metabolism disruption.

The paper identifies a phosphorylation event that modulates Sen1-mediated termination of non-coding transcription in budding yeast, leading to repression of downstream gene expression.

The paper compares RNA profiles in plasma-derived large and small extracellular vesicles from neurodegenerative disease patients and healthy controls, identifying disease-specific miRNA signatures.

This study shows that TDP-43 deficiency leads to R-loop accumulation and DNA damage, linking ALS pathology to R-loop homeostasis.