Open access
Aug 2026
APTX deficiency is associated with altered neuronal differentiation and alternative splicing in patient-derived neurons.
It is demonstrated that AOA1-derived neurons exhibit neurite morphology and maturation defects correlated with the accumulation of DNA single-strand break (SSB) signals, and DNA-damage and PAR signals showed greater DNA-damage and PAR signals together with lower protein-normalized NAD(H) and ATP after genotoxic exposure.
Zirui Chen, Yihua Huang, Xinyue Hu et al.
· Neurobiology of Disease · 0 citations