Pasquale Bianco

The distinct role of actin isoforms on mechanosensing-based maturation of hiPSC-derived neurons unveiled by isoform-specific mutations

This study investigates the role of beta- and gamma-actin isoforms in neuronal mechanotransduction using mutations linked to BWCFF syndrome, revealing distinct functional consequences.

The Baraitser-Winter Cerebrofrontofacial Syndrome recurrent R196H variant in cytoplasmic β-actin impairs its cellular polymerization and stability

This study investigates the R196H mutation in β-actin, showing it reduces F-actin content and cell stiffness, weakens actin-membrane attachment, and impairs cofilin interaction.

An integrated picture of the structural pathways controlling the heart performance

The paper revises the mechanosensing hypothesis of heart function using X-ray diffraction data and cryo-EM structures, identifying structural changes in thick filaments that modulate motor activation and heart performance.