The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy
Open accessAbstract
G 4 C 2 repeat–derived poly(GR) plays a key role in mediating TDP-43 mislocalization and aggregation in vitro and in vivo.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“findings from molecular studies indicate that the mechanisms underlying TDP‐43 aggregation by C9orf72 expansions differ from those driven by GRN loss of function. 125 , 126”
From New developments of biofluid‐based biomarkers for routine diagnosis and disease trajectories in frontotemporal dementia (2022) · cites this paper as [126]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Self-citationA 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
Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
Elden, A. C., Kim, H.-J., Hart, M. P., Chen‐Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R. A., Lu, M. M., et al. (2010) · Nature · doi:10.1038/nature09320 · Cited by 1,361
Neurofilament light chain as a biomarker in neurological disorders
Gaetani, L., Blennow, K., Calabresi, P., Di Filippo, M., Parnetti, L., & Zetterberg, H. (2019) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2018-320106 · Cited by 1,334
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
Ash, 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 1,127
Self-citationThe 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
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Freibaum, B. D., Lu, Y., Lopez-Gonzalez, R., Kim, N. C., Almeida, S., Lee, K.-H., Badders, N., Valentine, M., Miller, B. L., Wong, P. C., et al. (2015) · Nature · doi:10.1038/nature14974 · Cited by 841
Self-citation
Cited by
Sorted by citations
Feldman, E. L., Goutman, S. A., Petri, S., Mazzini, L., Savelieff, M. G., Shaw, P. J., & Sobue, G. (2022) · The Lancet · doi:10.1016/s0140-6736(22)01272-7 · Cited by 1,267
Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Goutman, S. A., Hardiman, O. M., Al‐Chalabi, A., Chiò, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00414-2 · Cited by 432
Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide
Tran, H., Moazami, M. P., Yang, H., McKenna-Yasek, D., Douthwright, C. L., Pinto, C., Metterville, J., Shin, M., Sanil, N., Dooley, C., et al. (2022) · Nature Medicine · doi:10.1038/s41591-021-01557-6 · Cited by 174
Intra-condensate demixing of TDP-43 inside stress granules generates pathological aggregates
Yan, X., Kuster, D., Mohanty, P., Nijssen, J., García, K. P., Morato, J. G., Rizuan, A., Franzmann, T. M., Sergeeva, A. V., Ly, A. M., et al. (2025) · Cell · doi:10.1016/j.cell.2025.04.039 · Cited by 182
Self-citationHigher-order organization of biomolecular condensates
Fare, C. M., Villani, A., Drake, L. E., & Shorter, J. (2021) · Open Biology · doi:10.1098/rsob.210137 · Cited by 176
Self-citation
Metadata
- Authors
- Cook, C. N., Wu, Y., Odeh, H. M., Gendron, T. F., Jansen-West, K., del Rosso, G., Yue, M., Jiang, P., Gomes, E., Tong, J., Daughrity, L. M., Avendano, N. M., Castanedes-Casey, M., Shao, W., Oskarsson, B., Tomassy, G. S., McCampbell, A., Rigo, F., Dickson, D. W., Shorter, J., Zhang, Y.-J., & Petrucelli, L.
- Affiliations
- Mayo Clinic (US)
- University of Pennsylvania (US)
- Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
- Biogen (United States) (US)
- Ionis Pharmaceuticals (United States) (US)
- Corresponding author
- Cook, Casey N.
- Wu, Yanwei
- Odeh, Hana M.
- Shorter, James
- Zhang, Yong-Jie
- Petrucelli, Leonard
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2020-09-02
- Volume
- 12
- Issue
- 559
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC7989020
- OpenAlex
- W3082060010
- Cited by
- 193
- References
- 49
- Citations by year
- 2026: 22 · 2025: 40 · 2024: 27 · 2023: 27 · 2022: 37 · 2021: 36 · 2020: 4
- FWCI
- 11.37
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (R21AG065854)
- National Institute of General Medical Sciences (R01GM099836)
- National Institute of Neurological Disorders and Stroke (R35NS097273, P01NS084974, P01NS099114, R01NS088689)
- Amyotrophic Lateral Sclerosis Association
- Biogen Idec
- Mayo Clinic Foundation
- Robert Packard Center for ALS Research at Johns Hopkins
- Target ALS Foundation
- AstraZeneca post-doctoral fellowship
- 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, protein aggregation, TDP-43, TDP-43 proteinopathy, amyotrophic lateral sclerosis, disease-modifying therapy, neurofilament light chain, plasma biomarkers, treatment efficacy
- MeSH terms
- C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, Disease Models, Animal, DNA-Binding Proteins, DNA Repeat Expansion, Mice, TDP-43 Proteinopathies, Frontotemporal Dementia, Protein Aggregation, Pathological
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
