Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease
Open accessAbstract
Loss-of-function mutations in the mouse ortholog of C9ORF72 cause fatal autoimmunity that is transferable by bone marrow–derived cells, demonstrating a hematopoietic intrinsic function for the protein encoded by this gene.
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
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?
Deletion of the mouse C9orf72 ortholog leads to splenomegaly, lymphadenopathy, dysregulation of macrophages and microglia, and excess production of inflammatory cytokines.
“In contrast, deletion of the mouse C9orf72 ortholog leads to splenomegaly, lymphadenopathy, dysregulation of macrophages and microglia, and excess production of inflammatory cytokines [184–187].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [185]
c9orf72 knockout animals exhibit a shortened lifespan, but no specific neuronal defects have been identified in these mice.
“While c9orf72 knockout animals exhibit a shortened lifespan [184,185,187], no specific neuronal defects have been identified in these mice.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [185]
C9orf72-deficient mice display lysosomal accumulation and a hyperactive immune response characterized by enhanced production of IL1B and IL6.
“C9orf72-deficient mice display lysosomal accumulation and a hyperactive immune response characterized by enhanced production of IL1B and IL6 [184,185,187,439],”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [185]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
The citation lists haven’t been fetched yet
References 45 · Cited by 269
- Authors
- Burberry, A., Suzuki, N., Wang, J.-Y., Moccia, R., Mordes, D. A., Stewart, M. H., Suzuki-Uematsu, S., Ghosh, S., Singh, A., Merkle, F. T., Koszka, K., Li, Q.-Z., Zon, L., Rossi, D. J., Trowbridge, J. J., Notarangelo, L. D., & Eggan, K.
- Affiliations
- Broad Institute (US)
- Harvard Stem Cell Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
- Boston Children's Hospital (US)
- The University of Texas Southwestern Medical Center (US)
- Harvard University (US)
- Jackson Laboratory (US)
- Corresponding author
- Eggan, Kevin
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2016-07-13
- Volume
- 8
- Issue
- 347
- Pages
- 347ra93-347ra93
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC5024536
- OpenAlex
- W2460035459
- Cited by
- 269
- References
- 45
- Citations by year
- 2026: 7 · 2025: 16 · 2024: 20 · 2023: 26 · 2022: 33 · 2021: 40 · 2020: 41 · 2019: 28 · 2018: 31 · 2017: 18 · 2016: 8
- FWCI
- 21.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- Howard Hughes Medical Institute (NIH5R01NS089742)
- NIH (5K99NS083713)
- Wellcome Trust
- Academy of Medical Sciences
- Medical Research Council (MR/P501967/1)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- C9orf72, loss-of-function mutations, mouse orthologs, autoimmune disease, amyotrophic lateral sclerosis, frontotemporal dementia, splenomegaly, neutrophilia, thrombocytopenia, inflammatory cytokines, bone marrow transplantation, hematopoietic system, inflammation, premature mortality
- MeSH terms
- C9orf72 Protein, Animals, Autoimmune Diseases, Leukemia, Mutation, Splenomegaly, Thrombocytopenia, Autoimmunity, Cytokines, Mice, CRISPR-Cas Systems
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
