NEK1 haploinsufficiency worsens DNA damage but not defective ciliogenesis in C9ORF72 patient-derived iPSC-motoneurons
Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Ratti
This study investigates how NEK1 haploinsufficiency affects C9ORF72 pathology in patient-derived iPSC-motoneurons, finding increased DNA damage but no additional ciliogenesis defects.
Human Molecular Genetics · Sep 2, 2024Peer-reviewedNeuroscience