Mutations in Nucleoporins and Their Role in Human Diseases: Integrating Evidence on Specific NUP Functions

Q: What is the clinical evidence from this study?

Study design: Review. Population: NUP-associated pathologies. Intervention: Nucleoporin (NUP) aberrations.

Siying Cai; Xinlei Ma; Huaibiao Li; Houze Zhu; Wenpei Xiang

doi:10.1016/j.ejcb.2026.151553

July 1, 2026European Journal of Cell BiologyOpen Access

Mutations in Nucleoporins and Their Role in Human Diseases: Integrating Evidence on Specific NUP Functions

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Key result

Nucleoporin aberrations linked to diverse human diseases via structural collapse and transport network paralysis.

Why the study?

Nucleoporin aberrations are increasingly implicated in human diseases via multifaceted mechanisms, but a synthesis of their molecular etiology is needed to understand their biological roles and inform targeted therapies.

Key Points

The aim is to explore the role of nucleoporins in human disease mechanisms, focusing on their specific functions.
Synthesis of existing research on nucleoporins and their mutations across various diseases.
Analysis of the molecular pathways affected by nucleoporins in disease contexts.
Identification of therapeutic strategies for NUP-associated disorders.
NUP mutations contribute to diverse diseases through mechanisms like structural NPC collapse and transport paralysis.
Aberrant NUP functions are linked to epigenetic changes and transcriptional dysregulation.
Understanding NUP roles may lead to targeted therapies for diseases involving nucleoporins.

PICO

P

Population

NUP-associated pathologies

E

Exposure / Comparator

Nucleoporin (NUP) aberrations

This review synthesizes the molecular etiology of NUP-associated pathologies, highlighting their diverse functions and potential as targets for personalized therapeutic strategies.

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Implication

Supports nucleoporin pathway exploration in disease; leaves open clinical translation pending prospective validation.

Abstract

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.

Discussion

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Cite This Study

Cai et al. (2026) 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.

synapsesocial.com/papers/6a4a156e762f9565a0427480 https://doi.org/10.1016/j.ejcb.2026.151553

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Mutations in Nucleoporins and Their Role in Human Diseases: Integrating Evidence on Specific NUP Functions

Key Points

PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Mutations in Nucleoporins and Their Role in Human Diseases: Integrating Evidence on Specific NUP Functions

Key Points

PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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