NEK1haploinsufficiency worsens DNA damage but not defective ciliogenesis inC9ORF72patient-derived iPSC-motoneurons
Serena Santangelo,
Sabrina Invernizzi,
Marta Nice Sorce
et al.
Abstract:A hexanucleotide G4C2 repeat expansion (HRE) in C9ORF72 gene is the major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leading to both loss- and gain-of-function pathomechanisms. The wide clinical heterogeneity among C9ORF72 patients suggests potential modifying genetic factors. Notably, C9ORF72 mutations often co-occur with other variants in ALS/FTD-associated genes, such as NEK1, which encodes for a kinase involved in multiple pathways including DNA damage response and cili… Show more
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