Nuclear transport proteins: structure, function and disease relevance

Y Yang, L Guo, L Chen, B Gong, D Jia… - Signal transduction and …, 2023 - nature.com
Proper subcellular localization is crucial for the functioning of biomacromolecules, including
proteins and RNAs. Nuclear transport is a fundamental cellular process that regulates the …

Nuclear pore complexes—a doorway to neural injury in neurodegeneration

AN Coyne, JD Rothstein - Nature Reviews Neurology, 2022 - nature.com
The genetic underpinnings and end-stage pathological hallmarks of neurodegenerative
diseases are increasingly well defined, but the cellular pathophysiology of disease initiation …

AI-based structure prediction empowers integrative structural analysis of human nuclear pores

S Mosalaganti, A Obarska-Kosinska, M Siggel… - Science, 2022 - science.org
INTRODUCTION The eukaryotic nucleus protects the genome and is enclosed by the two
membranes of the nuclear envelope. Nuclear pore complexes (NPCs) perforate the nuclear …

H3K27me3-rich genomic regions can function as silencers to repress gene expression via chromatin interactions

Y Cai, Y Zhang, YP Loh, JQ Tng, MC Lim, Z Cao… - Nature …, 2021 - nature.com
The mechanisms underlying gene repression and silencers are poorly understood. Here we
investigate the hypothesis that H3K27me3-rich regions of the genome, defined from clusters …

Mutant huntingtin disrupts the nuclear pore complex

JC Grima, JG Daigle, N Arbez, KC Cunningham… - Neuron, 2017 - cell.com
Huntington's disease (HD) is caused by an expanded CAG repeat in the Huntingtin (HTT)
gene. The mechanism (s) by which mutant HTT (mHTT) causes disease is unclear …

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

AN Coyne, V Baskerville, BL Zaepfel… - Science translational …, 2021 - science.org
Alterations in the components [nucleoporins (Nups)] and function of the nuclear pore
complex (NPC) have been implicated as contributors to the pathogenesis of genetic forms of …

Docking a flexible basket onto the core of the nuclear pore complex

E Stankunas, A Köhler - Nature Cell Biology, 2024 - nature.com
The nuclear basket attaches to the nucleoplasmic side of the nuclear pore complex (NPC),
coupling transcription to mRNA quality control and export. The basket expands the …

Repair of nuclear ruptures requires barrier-to-autointegration factor

CT Halfmann, RM Sears, A Katiyar… - Journal of Cell …, 2019 - rupress.org
Cell nuclei rupture following exposure to mechanical force and/or upon weakening of
nuclear integrity, but nuclear ruptures are repairable. Barrier-to-autointegration factor (BAF) …

SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis

V Baskerville, S Rapuri, E Mehlhop, AN Coyne - Brain, 2024 - academic.oup.com
We have recently identified the aberrant nuclear accumulation of the ESCRT-III protein
CHMP7 as an initiating event that leads to a significant injury to the nuclear pore complex …

Deterioration of nuclear morphology and architecture: A hallmark of senescence and aging

RU Pathak, M Soujanya, RK Mishra - Ageing Research Reviews, 2021 - Elsevier
The metazoan nucleus is a highly structured organelle containing several well-defined sub-
organelles. It is the largest organelle inside a cell taking up from one tenth to half of entire …