The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Open accessAbstract
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.
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.
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
State of play in amyotrophic lateral sclerosis genetics
Renton, A. E., Chiò, A., & Traynor, B. J. (2014) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,544
Self-citationMutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., et al. (2013) · Nature · doi:10.1038/nature11922 · Cited by 1,475
Self-citationExome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235
Self-citationPrognostic factors in ALS: A critical review
Chiò, A., Logroscino, G., Hardiman, O., Swingler, R., Mitchell, D., Beghi, E., Traynor, B. G., & On Behalf of the Eurals Consortium (2009) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482960802566824 · Cited by 1,172
Self-citationThe Fate of dsRNA in the Nucleus
Zhang, Z., & Carmichael, G. G. (2001) · Cell · doi:10.1016/s0092-8674(01)00466-4 · Cited by 469
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
Ling, S.-C., Albuquerque, C. P., Han, J. S., Lagier-Tourenne, C., Tokunaga, S., Zhou, H., & Cleveland, D. W. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1008227107 · Cited by 449
Proteomic and functional analysis of Argonaute-containing mRNA-protein complexes in human cells
Höck, J., Weinmann, L., Ender, C., Rüdel, S., Kremmer, E., Raabe, M., Urlaub, H., & Meister, G. (2007) · The EMBO Reports · doi:10.1038/sj.embor.7401088 · Cited by 352
Weihl, C. C., Temiz, P., Miller, S. E., Watts, G., Smith, C., Forman, M., Hanson, P. I., Kimonis, V, & Pestronk, A. (2008) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2007.131334 · Cited by 305
Self-citationSenderek, J., Garvey, S. M., Krieger, M., Guergueltcheva, V., Urtizberea, J. A., Roos, A., Elbracht, M., Stendel, C., Tournev, I., Mihailova, V., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.006 · Cited by 179
Self-citationThe split hand syndrome in amyotrophic lateral sclerosis
Eisen, A., & Kuwabara, S. (2012) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2011-301456 · Cited by 163
Cited by
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science · doi:10.1126/science.aaa3650 · Cited by 966
Self-citationMolecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis
Prasad, A., Bharathi, V., Sivalingam, V., Girdhar, A., & Patel, B. K. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00025 · Cited by 774
TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets
Scotter, E. L., Chen, H.-J., & Shaw, C. E. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0338-x · Cited by 382
The neurogenetics of alternative splicing
Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Akçimen, F., Lopez, E. R., Landers, J. E., Nath, A., Chiò, A., Chia, R., & Traynor, B. J. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00592-y · Cited by 234
Self-citation
Metadata
- Authors
- ITALSGEN, Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J. R., Nalls, M. A., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R. W., Malaspina, A., Sidle, K. C., Fratta, P., Harms, M. B., Baloh, R. H., Pestronk, A., Weihl, C. C., Rogaeva, E., Zinman, L., Drory, V. E., Borghero, G., Mora, G., Calvo, A., Rothstein, J. D., Drepper, C., Sendtner, M., Singleton, A. B., Taylor, J. P., Cookson, M. R., Restagno, G., Sabatelli, M., Bowser, R., Chiò, A., & Traynor, B. J.
- Venue
- Nature Neuroscience
- Published
- 2014-03-30
- Volume
- 17
- Issue
- 5
- Pages
- 664-666
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2919268190
- Cited by
- 445
- References
- 17
- FWCI
- 29.88
- Type
- journal article
- Language
- en
- Open access
- green
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. https://app.cochat.ai/papers/10.1038/nn.3688
- The paper
- ITALSGEN, Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J. R., Nalls, M. A., Morgan, S., Shoai, M., Hardy, J., Pittman, A., Orrell, R. W., Malaspina, A., . . . Traynor, B. J. (2014). Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neuroscience. https://doi.org/10.1038/nn.3688
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
