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

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 (...

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Autors principals:	Mengli Wang, Honglan Yang, Zhongzheng Li, Sen Zeng, Ke Xu, Binghao Wang, Yongzhi Xie, Qingping Wang, Zhuolin Su, Mingri Zhao, Yiti Zhang, Mujun Liu, Beisha Tang, Xionghao Liu, Ruxu Zhang
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2026-02-01
Col·lecció:	Pharmacological Research
Matèries:	Microrchidia family CW-type zinc finger 2 gene Charcot-Marie-Tooth disease type 2Z Spinal muscular atrophy-like IPSC-MNs DNA repair PARP1 and PAR
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S1043661826000186
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