Nucleoporin genes in human diseases

V Nofrini, D Di Giacomo, C Mecucci - European Journal of Human …, 2016 - nature.com
Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that
mediate nucleocytoplasmic transport. They are composed of multiple copies of~ 30 proteins …

Lamin B receptor: interplay between structure, function and localization

E Nikolakaki, I Mylonis, T Giannakouros - Cells, 2017 - mdpi.com
Lamin B receptor (LBR) is an integral protein of the inner nuclear membrane, containing a
hydrophilic N-terminal end protruding into the nucleoplasm, eight hydrophobic segments …

A negative loop within the nuclear pore complex controls global chromatin organization

M Breuer, H Ohkura - Genes & development, 2015 - genesdev.cshlp.org
The nuclear pore complex (NPC) tethers chromatin to create an environment for gene
regulation, but little is known about how this activity is regulated to avoid excessive tethering …

The diverse roles of the Nup93/Nic96 complex proteins–structural scaffolds of the nuclear pore complex with additional cellular functions

B Vollmer, W Antonin - Biological chemistry, 2014 - degruyter.com
Nuclear pore complexes mediate the transport between the cell nucleoplasm and
cytoplasm. These 125 MDa structures are among the largest assemblies found in …

Partial Disassembly of the Nuclear Pore Complex Proteins during Semi-Closed Mitosis in Dictyostelium discoideum

K Mitic, M Grafe, P Batsios, I Meyer - Cells, 2022 - mdpi.com
Dictyostelium cells undergo a semi-closed mitosis, during which the nuclear envelope (NE)
persists; however, free diffusion between the cytoplasm and the nucleus takes place. To …

From the sideline: Tissue‐specific nucleoporin function in health and disease, an update

R Jühlen, B Fahrenkrog - FEBS letters, 2023 - Wiley Online Library
The subcellular compartmentalisation of eukaryotic cells requires selective exchange
between the cytoplasm and the nucleus. Intact nucleocytoplasmic transport is vital for normal …

Analysis of the initiation of nuclear pore assembly by ectopically targeting nucleoporins to chromatin

M Schwartz, A Travesa, SW Martell, DJ Forbes - Nucleus, 2015 - Taylor & Francis
Nuclear pore complexes (NPCs) form the gateway to the nucleus, mediating virtually all
nucleocytoplasmic trafficking. Assembly of a nuclear pore complex requires the organization …

Advances in the understanding of nuclear pore complexes in human diseases

Y Li, J Zhu, F Zhai, L Kong, H Li, X Jin - Journal of Cancer Research and …, 2024 - Springer
Abstract Background Nuclear pore complexes (NPCs) are sophisticated and dynamic
protein structures that straddle the nuclear envelope and act as gatekeepers for transporting …

Regulation and coordination of nuclear envelope and nuclear pore complex assembly

M Clever, Y Mimura, T Funakoshi, N Imamoto - Nucleus, 2013 - Taylor & Francis
In metazoans with “open” mitosis, cells undergo structural changes involving the complete
disassembly of the nuclear envelope (NE). In post-mitosis, the dividing cell faces the …

Nucleoporin insufficiency disrupts a pluripotent regulatory circuit in a pro-arrhythmogenic stem cell line

CC Preston, EC Storm, RD Burdine, TA Bradley… - Scientific reports, 2019 - nature.com
Nucleoporins have been reported to regulate pluripotent biology, but how they do so
remains partially characterized. This study examined the effects of nup155 gene disruption …