NeuroscienceHuman Molecular GeneticsPeer-reviewed
NEK1 haploinsufficiency worsens DNA damage but not defective ciliogenesis in C9ORF72 patient-derived iPSC-motoneurons
Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce…·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.
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