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Fluvoxamine Exerts Sigma-1R to Rescue Autophagy via Pom121-Mediated Nucleocytoplasmic Transport of TFEB
Expansion of the GGGGCC-RNA repeat is a known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), which currently have no...
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The ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei
Nuclear pore complex injury has recently emerged as an early and significant contributor to familial and sporadic ALS disease pathogenesis. However,...
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Nuclear Pore Dysfunction in Neurodegeneration
The nuclear pore complex (NPC) is a large multimeric structure that is interspersed throughout the membrane of the nucleus and consists of at least...
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Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease
The nuclear pore complex is the main transportation hub for exchange between the cytoplasm and the nucleus. It is built from nucleoporins that form...
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Gene–Gene Interactions and Biological Network Analysis of Diseases with Disturbances of Human Cognitive Functions
Neurological and mental diseases, such as schizophrenia, Alzheimer’s disease, bipolar disorder, and Parkinson’s disease, have complex phenotypes with...
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Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway
Nucleocytoplasmic transport (NCT) decline occurs with aging and neurodegeneration. Here, we investigated the NCT pathway in models of amyotrophic...
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Downregulation of NUP93 aggravates hypoxia-induced death of cardiomyocytes in vitro through abnormal regulation of gene transcription
Nuclear pore complex in the nuclear envelope plays an important role in controlling the transportation of RNAs, proteins and other macromolecules...
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Identification and validation of the high expression of pseudogene TCAM1P in cervical cancer via integrated bioinformatics analysis
BackgroundHPV as the main cause of cervical cancer has long been revealed, but the detailed mechanism has not yet been elucidated. The role of...
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Genetic Diversity of North Eurasia Populations by Genetic Markers Associated with Diseases Impairing Human Cognitive Functions
AbstractThe genetic diversity of sixteen native populations of North Eurasia is investigated using a panel of genetic markers in genes associated,...
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The Hitchhiker’s Guide to Nucleocytoplasmic Trafficking in Neurodegeneration
The widespread nature of nucleocytoplasmic trafficking defects and protein accumulation suggests distinct yet overlap** mechanisms in a variety of...
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Landscape of Long Noncoding RNA Genes, Pseudogenes, and Protein Genes in Segmental Duplications in the Critical Human Chromosomal Region 22q11.2
Human chromosomal region 22q11.2 is prone to deletions that result in genetic disorders termed 22q11.2 deletion syndrome. Approximately 1 in 4000...
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Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia
Nuclear pore complexes (NPCs) are the gateways of the nuclear envelope mediating transport between cytoplasm and nucleus. They form huge complexes of...
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Coaching from the sidelines: the nuclear periphery in genome regulation
The genome is packaged and organized nonrandomly within the 3D space of the nucleus to promote efficient gene expression and to faithfully maintain...
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Nuclear Pore Complexes in the Organization and Regulation of the Mammalian Genome
In the last decade, the nuclear envelope (NE) has emerged as an important regulator of genome architecture and a central player in gene expression...
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RNA Nucleocytoplasmic Transport Defects in Neurodegenerative Diseases
In eukaryotic cells, transcription and translation are compartmentalized by the nuclear membrane, requiring an active transport of RNA from the...
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Nuclear Pore Complexes in DNA Repair and Telomere Maintenance
Nuclear Pore complexes (NPCs) constitute unique aqueous channels embedded in the nuclear envelope that insure the selective and massive exchange of...
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Nucleoporin genes in human diseases
Nuclear pore complexes (NPCs) are large channels spanning the nuclear envelope that mediate nucleocytoplasmic transport. They are composed of...
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Nuclear pore complex-mediated modulation of TCR signaling is required for naïve CD4+ T cell homeostasis
Nuclear pore complexes (NPCs) are channels connecting the nucleus with the cytoplasm. We report that loss of the tissue-specific NPC component Nup210...
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Caenorhabditis elegans Nuclear Pore Complexes in Genome Organization and Gene Expression
The nuclear pore complex (NPC) serves as gateway for transport between the cytoplasm and the nucleus and its structure as well as individual...