The MORC2 p.S87L mutation reduces proliferation of pluripotent stem cells derived from a patient with the spinal muscular atrophy-like phenotype by inhibiting proliferation-related signaling pathways

Mutations in the microrchidia CW-type zinc finger protein 2 (MORC2) gene are the causative agent of Charcot-Marie-Tooth disease type 2Z (CMT2Z), and the hotspot mutation p.S87L is associated with a more severe spinal muscular atrophy-like clinical phenotype. The aims of this study were to determine...

Descripción completa

Detalles Bibliográficos
Autores principales: Zeng, Sen, Yang, Honglan, Wang, Binghao, Xie, Yongzhi, Xu, Ke, Liu, Lei, Cao, Wanqian, Liu, Xionghao, Tang, Beisha, Liu, Mujun, Zhang, Ruxu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479865/
https://www.ncbi.nlm.nih.gov/pubmed/37488868
http://dx.doi.org/10.4103/1673-5374.375347

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10479865/
https://www.ncbi.nlm.nih.gov/pubmed/37488868
http://dx.doi.org/10.4103/1673-5374.375347

Ejemplares similares