The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Open accessAbstract
Hexanucleotide repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) (c9ALS/FTD). Unconventional translation of these repeats produces dipeptide repeat proteins (DPRs) that may cause neurodegeneration. We performed a modifier screen in Drosophila and discovered a critical role for importins and exportins, Ran-GTP cycle regulators, nuclear pore components and arginine methylases in mediating DPR toxicity. These findings provide evidence for an important role for nucleocytoplasmic transport in the pathogenic mechanism of c9ALS/FTD.
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“Custom Python scripts were used to track ROIs over time, and cell death marked a set of criteria that include rounding of the soma, loss of fluorescence and degeneration of neuritic processes (63, 64).”
From Nemo-like kinase disrupts nuclear import and drives TDP43 mislocalization in ALS (2025) · cites this paper as [63]
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Cites
Mfold web server for nucleic acid folding and hybridization prediction
Zuker, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg595 · Cited by 13,404
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · cited 2×
“(c) Knockdown of four karyopherins (Trn, Fs(2)Ket, Kap-alpha3 and Ranbp11) strongly enhanced PR toxicity.”
BackgroundA Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
Ling, S.-C., Polymenidou, M., & Cleveland, D. W. (2013) · Neuron · doi:10.1016/j.neuron.2013.07.033 · Cited by 1,811
Increasing the precision of comparative models with YASARA NOVA—a self‐parameterizing force field
Krieger, E., Koraimann, G., & Vriend, G. (2002) · Proteins Structure Function and Bioinformatics · doi:10.1002/prot.10104 · Cited by 1,521
Spatiotemporal Rescue of Memory Dysfunction in Drosophila
McGuire, S. E., Le, P. T., Osborn, A. J., Matsumoto, K., & Davis, R. L. (2003) · Science · doi:10.1126/science.1089035 · Cited by 1,318
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248
Self-citationAsh, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T. R., Lin, W.-L., DeJesus‐Hernandez, M., van Blitterswijk, M., Jansen‐West, K. R., Paul, J. W., Rademakers, R., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.004 · Cited by 1,079
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang, K., Donnelly, C. J., Haeusler, A. R., Grima, J. C., Machamer, J. B., Steinwald, P., Daley, E. L., Miller, S. J., Cunningham, K. M., Vidensky, S., et al. (2015) · Nature · doi:10.1038/nature14973 · Cited by 982
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Research works printed but not linked: 1
- Mizielinska, S. et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345, 1192–1194 (2014). · DOI · Paper page
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Protein Phase Separation: A New Phase in Cell Biology
Boeynaems, S., Alberti, S., Fawzi, N. L., Mittag, T., Polymenidou, M., Rousseau, F., Schymkowitz, J. W. H., Shorter, J., Wolozin, B. L., Bosch, L. V. D., et al. (2018) · Trends in Cell Biology · doi:10.1016/j.tcb.2018.02.004 · Cited by 2,001
Self-citationC9orf72-mediated ALS and FTD: multiple pathways to disease
Balendra, R., & Isaacs, A. M. (2018) · Nature Reviews Neurology · doi:10.1038/s41582-018-0047-2 · Cited by 715
Jiang, J., Zhu, Q., Gendron, T. F., Saberi, S., McAlonis-Downes, M., Seelman, A., Stauffer, J. E., Jafar-nejad, P., Drenner, K., Schulte, D., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.04.006 · Cited by 536
Mead, R. J., Shan, N., Reiser, H. J., Marshall, F., & Shaw, P. J. (2023) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00612-2 · Cited by 505
Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics
Boeynaems, S., Bogaert, E., Kovács, D., Konijnenberg, A., Timmerman, E., Volkov, A. N., Guharoy, M., Decker, M. D., Jaspers, T., Ryan, V. H., et al. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.02.013 · Cited by 502
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Metadata
- Authors
- Boeynaems, S., Bogaert, E., Michiels, E., Gijselinck, I., Sieben, A., Jovičić, A., De Baets, G., Scheveneels, W., Steyaert, J., Cuijt, I., Verstrepen, K. J., Callaerts, P., Rousseau, F., Schymkowitz, J., Cruts, M., Van Broeckhoven, C., Van Damme, P., Gitler, A. D., Robberecht, W., & Van Den Bosch, L.
- Affiliations
- VIB-KU Leuven Center for Brain & Disease Research (BE)
- University of Antwerp (BE)
- Stanford Medicine (US)
- KU Leuven (BE)
- ORCID
- Venue
- Scientific Reports
- Published
- 2016-02-12
- Volume
- 6
- Issue
- 1
- Pages
- 20877-20877
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC4751451
- OpenAlex
- W2309375248
- Semantic Scholar
- dc423dfe17daef5834c89e5fc34a3236305be9c9
- Cited by
- 262
- References
- 30
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 14 · 2023: 25 · 2022: 15 · 2021: 47 · 2020: 37 · 2019: 29 · 2018: 40 · 2017: 27 · 2016: 16
- FWCI
- 28.08
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Lirias (submittedVersion, cc-by)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion, cc-by)
- Funders
- Association Belge contre les Maladies Neuro-Musculaires
- Johns Hopkins University
- Target ALS
- Belgian Federal Science Policy Office (P7/16)
- Fonds Wetenschappelijk Onderzoek (G098314N)
- KU Leuven
- Onderzoeksraad, KU Leuven
- Universiteit Antwerpen (FP7/2007-2013)
- Vlaamse regering
- Fondation pour la Recherche sur Alzheimer
- National Institutes of Health (FP7/2007-2013)
- National Institute of Neurological Disorders and Stroke (R01NS073660, R01NS065317)
- FP7 Ideas: European Research Council (241426, 340429)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- C9orf72, hexanucleotide repeat expansion, dipeptide repeat proteins, nuclear transport, importins, exportins, nuclear pore complex, modifier screen, Drosophila model, amyotrophic lateral sclerosis, frontotemporal lobar degeneration
- MeSH terms
- Amyotrophic Lateral Sclerosis, Animals, Arginine, Cell Nucleus, Dipeptides, Disease Models, Animal, Drosophila melanogaster, Eye, Genetic Testing, HeLa Cells, Humans, Methylation, Genes, Insect, Repetitive Sequences, Amino Acid, Active Transport, Cell Nucleus, RNA Interference, Frontotemporal Dementia
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