Article
Impaired PARP1-dependent DNA repair in MORC2 mutations drives axonal degeneration in Charcot-Marie-Tooth disease subtype 2Z and spinal muscular atrophy-like neuromotor disorders.
Pharmacological research - 1 Feb 2026
Wang Mengli, Yang Honglan, Li Zhongzheng, Zeng Sen, Xu Ke, Wang Binghao, Xie Yongzhi, Wang Qingping, Su Zhuolin, Zhao Mingri, Zhang Yiti, Liu Mujun, Tang Beisha, Liu Xionghao, Zhang Ruxu
Abstract excerpt
MORC2 mutations are associated with a spectrum of neuromotor disorders, including Charcot-Marie-Tooth disease subtype 2Z (CMT2Z) and a spinal muscular atrophy (SMA)-like phenotype. However, the mechanisms underlying these conditions remain unclear. In this study, we used iPSC-derived motor neurons (iPSC-MNs) carrying three distinct MORC2 mutations, p.S87L (SMA-like), p.Q400R, and p.D466N (CMT2Z), to examine their...
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