Serena Santangelo

This study investigates how NEK1 haploinsufficiency affects C9ORF72 pathology in patient-derived iPSC-motoneurons, finding increased DNA damage but no additional ciliogenesis defects.

This study shows that NEK1 haploinsufficiency in human iPSC-derived motoneurons and brain organoids impairs ciliogenesis, linking NEK1 mutations to ALS through reduced primary cilium formation.

This study identifies altered nuclear envelope homeostasis as a key pathogenic event in C9ORF72-linked ALS/FTD, showing that restoring NE tensional homeostasis can rescue NPC injury and reduce DNA damage.