Nucleoporin aberrations are implicated in the pathogenesis of a broad spectrum of human diseases through multifactorial mechanisms including structural collapse and transport network paralysis.
Nuclear pore complexes (NPCs), massive assemblies of approximately 30 distinct nucleoporins (NUPs), serve as the exclusive gateways for nucleocytoplasmic transport. Recent research highlights that NUP aberrations—ranging from gene fusions and mutations to pathological protein accumulation—are increasingly implicated in the pathogenesis of a broad spectrum of human diseases. The underlying pathogenic mechanisms are highly multifactorial, encompassing the structural collapse of the NPC, transport network paralysis, epigenetic hijacking via liquid-liquid phase separation, and off-pore transcriptional dysregulation. This review synthesizes the multifaceted molecular etiology of NUP-associated pathologies. A deeper understanding of these diverse functions will shed light on the broader biological roles of NUPs and guide future research into targeted and personalized therapeutic strategies for NUP-associated disorders.
Cai et al. (Wed,) conducted a review in NUP-associated pathologies. Nucleoporin (NUP) aberrations was evaluated. Nucleoporin aberrations are implicated in the pathogenesis of a broad spectrum of human diseases through multifactorial mechanisms including structural collapse and transport network paralysis.