ArticleAmerican journal of human genetics2015
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed, 120 citations in OpenAlex.
- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- Article
- Exploring genotype-phenotype correlation in nucleoporin nephropathy.Pediatric research · 2025Article
- Nuclear mechanics as a determinant of nuclear pore complex plasticity.Nature cell biology · 2025Review
- Nucleoporins cooperate with Polycomb silencers to promote transcriptional repression and repair at DNA double-strand breaks.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.European journal of human genetics : EJHG · 2025Article
- Genetic and clinical spectrum of steroid-resistant nephrotic syndrome with nuclear pore gene mutation.Pediatric nephrology (Berlin, Germany) · 2025Article
- Nuclear pores safeguard the integrity of the nuclear envelope.Nature cell biology · 2025Article
- Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Candidate Genetic Modifiers in Alport Syndrome: A Case Series.Life (Basel, Switzerland) · 2025Article
- Nup107 contributes to the maternal-to-zygotic transition by preventing the premature nuclear export of pri-miR427.Development (Cambridge, England) · 2025Article
- Nuclear pore dysfunction and disease: a complex opportunity.Nucleus (Austin, Tex.) · 2024Review
- Molecular diagnosis of 405 individuals with autism spectrum disorder.European journal of human genetics : EJHG · 2024Article
- Advances in the understanding of nuclear pore complexes in human diseases.Journal of cancer research and clinical oncology · 2024Review
- Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.Italian journal of pediatrics · 2024Article
- Deciphering vesicle-assisted transport mechanisms in cytoplasm to cilium trafficking.Frontiers in cellular neuroscience · 2024Review
- Evolutionary, structural and functional insights in nuclear organisation and nucleocytoplasmic transport in trypanosomes.FEBS letters · 2023Review
- Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.Genesis (New York, N.Y. : 2000) · 2023Article
- Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.Scientific reports · 2023Article
- Nucleoporin 107 is a prognostic biomarker in hepatocellular carcinoma associated with immune infiltration.Cancer medicine · 2023Article
12 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has central functions in nucleocytoplasmic transport, nuclear framework, and gene regulation. Nucleoporin 107 kDa (NUP107) is a component of the NPC central scaffold and is an essential protein in all eukaryotic cells. Here, we report on biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). These individuals have pathologically focal segmental glomerulosclerosis, a condition that leads to end-stage renal disease with high frequency. NUP107 is ubiquitously expressed, including in glomerular podocytes. Three of four NUP107 mutations detected in the affected individuals hamper NUP107 binding to NUP133 (nucleoporin 133 kDa) and NUP107 incorporation into NPCs in vitro. Zebrafish with nup107 knockdown generated by morpholino oligonucleotides displayed hypoplastic glomerulus structures and abnormal podocyte foot processes, thereby mimicking the pathological changes seen in the kidneys of the SRNS individuals with NUP107 mutations. Considering the unique properties of the podocyte (highly differentiated foot-process architecture and slit membrane and the inability to regenerate), we propose a "podocyte-injury model" as the pathomechanism for SRNS due to biallelic NUP107 mutations.
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