Mutations in nucleoporins and their roles in human diseases: Integrating evidence on specific NUP functions.

Abstract excerpt

Nuclear pore complexes (NPCs), massive assemblies of approximately 30 distinct nucleoporins (NUPs), serve as the major 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...

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