Back to Feed
Stem cell research & therapy|Peer-Reviewed
A novel OTUD5 variant disrupts neural progenitor cell homeostasis: mechanistic insights from HEK293T cell-based analyses.
Na Xu, Shihao Wang, Tingting Yang, Meiping Yu, Yu Sun, Yongkun Zhan, Yongguo Yu
Abstract
Variants in OTUD5 are associated with neurodevelopmental disorders (NDDs), yet the underlying molecular mechanisms remain unclear. This study aimed to investigate the pathogenicity of a novel OTUD5 variant (c.697G > A, p.Val233Met) and elucidate its regulatory role in neural progenitor cell (NPC) proliferation and differentiation, thereby uncovering the function of OTUD5 in neurodevelopment.
Keywords
<Keyword MajorTopicYN="N">OTU deubiquitinase 5DeubiquitinaseGlycogen synthase kinase 3 BetaNeural progenitor cellsNeurodevelopmental disorders