Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD
Open accessThe 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?
C9orf72 forms a complex with SMCR8 and WDR41, which targets the complex to lysosomes and interacts with RB1CC1-ULK1-ATG13-ATG101 to regulate autophagosome formation.
“C9orf72 also forms a complex with SMCR8, a guanine nucleotide exchange factor, and WDR41, a WD40 protein essential for targeting the C9orf72-SMCR8-WDR41 complex to lysosomes [146–150]. Here, this complex interacts with RB1CC1-ULK1-ATG13-ATG101, which together are involved in autophagosome formation [149].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [146]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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 · see citing works
A 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 · see citing works
Yue, Z., Jin, S., Yang, C., Levine, A. J., & Heintz, N. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2436255100 · Cited by 2,116 · see citing works
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 1,327 · see citing works
<i>C9orf72</i> is required for proper macrophage and microglial function in mice
O’Rourke, J. G., Bogdanik, L., Yáñez, A., Lall, D., Wolf, A. J., Muhammad, A. K. M. G., Ho, R., Carmona, S., Vit, J. P., Zarrow, J., et al. (2016) · Science · doi:10.1126/science.aaf1064 · Cited by 550 · see citing works
Farg, M. A., Sundaramoorthy, V., Sultana, J. M., Yang, S., Atkinson, R. A. K., Levina, V., Halloran, M. A., Gleeson, P. A., Blair, I. P., Soo, K. Y., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu068 · Cited by 478 · see citing works
Sellier, C., Campanari, M., Julie Corbier, C., Gaucherot, A., Kolb‐Cheynel, I., Oulad‐Abdelghani, M., Ruffenach, F., Page, A., Ciura, S., Kabashi, E., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593350 · Cited by 414 · see citing works
Almeida, S., Gascon, E., Tran, H., Chou, H. J., Gendron, T. F., DeGroot, S., Tapper, A. R., Sellier, C., Charlet-Berguerand, N., Karydas, A., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1149-y · Cited by 321 · see citing works
Self-citationAtanasio, A., Decman, V., White, D., Ramos, M., Ikiz, B., Lee, H.-C., Siao, C.-J., Brydges, S., LaRosa, E., Bai, Y., et al. (2016) · Scientific Reports · doi:10.1038/srep23204 · Cited by 263 · see citing works
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
Gitler, A. D., & Tsuiji, H. (2016) · Brain Research · doi:10.1016/j.brainres.2016.04.004 · Cited by 152 · see citing works
Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia
West, R. J. H., Lu, Y., Marie, B., Gao, F., & Sweeney, S. T. (2015) · The Journal of Cell Biology · doi:10.1083/jcb.201404066 · Cited by 84 · see citing works
Self-citationExome sequencing uncovers hidden pathways in familial and sporadic ALS
Bettencourt, C., & Houlden, H. (2015) · Nature Neuroscience · doi:10.1038/nn.4012 · Cited by 27 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Gao, F., Almeida, S., & Lopez‐Gonzalez, R. (2017) · The EMBO Journal · doi:10.15252/embj.201797568 · Cited by 218 · see citing works
“Many ALS/FTD disease proteins besides C9ORF72 participate directly in the autophagy pathway, suggesting a major pathogenic mechanism in these disorders (Almeida & Gao, 2016).”
Self-citationAutophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189 · see citing works
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation
Lall, D., Lorenzini, I., Mota, T. A., Bell, S., Mahan, T. E., Ulrich, J. D., Davtyan, H., Rexach, J. E., Muhammad, A. K. M. G., Shelest, O., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.05.020 · Cited by 147 · see citing works
Autophagy in health and disease: From molecular mechanisms to therapeutic target
Lu, G. X., Wang, Y., Shi, Y. P., Zhang, Z., Huang, C., He, W., Wang, C., & Shen, H. (2022) · MedComm · doi:10.1002/mco2.150 · Cited by 127 · see citing works
Disease-modifying therapies in amyotrophic lateral sclerosis
Chiò, A., Mazzini, L., & Mora, G. (2020) · Neuropharmacology · doi:10.1016/j.neuropharm.2020.107986 · Cited by 114 · see citing works
How villains are made: The translation of dipeptide repeat proteins in C9ORF72-ALS/FTD
Spijker, H. M. V. ‘., & Almeida, S. (2023) · Gene · doi:10.1016/j.gene.2023.147167 · Cited by 21 · see citing works
Self-citationEmerging Drugs for the Treatment of Amyotrophic Lateral Sclerosis: A Focus on Recent Phase 2 Trials
Barp, A., Gerardi, F., Lizio, A., Sansone, V., & Lunetta, C. (2020) · Expert Opinion on Emerging Drugs · doi:10.1080/14728214.2020.1769067 · Cited by 12 · see citing works
C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
Lopez-Herdoiza, M.-B., Bauché, S., Wilmet, B., Duigou, C. L., Roussel, D., Frah, M., Béal, J., Devely, G., Boluda, S., Frick, P., et al. (2023) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1155929 · Cited by 11 · see citing works
Vandal, S. E., Zheng, X. M., & Ahmad, S. T. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19061714 · Cited by 11 · see citing works
“The expanded repeats cause abnormal translation of C9ORF72 transcript resulting in toxic dipeptide repeats (DPRs) through a mechanism known as repeat associated non-ATG translation (RAN) [9,12].”
BackgroundAmyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis
Shrilaxmi, M. S., Banerjee, S., D’Mello, S. R., & Dastidar, S. G. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-04831-7 · Cited by 6 · see citing works
Modeling C9ORF72 loss-of-function : a knockdown mouse model
Lopez-Herdoiza, M.-B. (2016) · theses.fr (ABES) · doi:10.70675/dfc77570z827az4993z840dz21dfc54360de
Étude de la composante neuroinflammatoire dans les DFT/SLA
Smeyers, J. (2020) · theses.fr (ABES) · doi:10.70675/219cfa6fz5b3az4198z9deczdfaad3cd784c
de Calbiac, H. (2019) · theses.fr (ABES) · doi:10.70675/bafe951fz8332z4b0azb55bzac8a4af1955b
- Authors
- Almeida, S., & Gao, F.
- Affiliations
- University of Massachusetts Chan Medical School (US)
- Venue
- The EMBO Journal
- Published
- 2016-05-06
- Volume
- 35
- Issue
- 12
- Pages
- 1251-1253
- ISSN
- 0261-4189 (ISSN-L)
- 1460-2075
- PMC
- PMC4910530
- OpenAlex
- W2347084068
- Cited by
- 13
- References
- 12
- Citations by year
- 2025: 1 · 2023: 2 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1
- FWCI
- 1.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The EMBO Journal (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS057553, R01NS079725)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, autophagy, macroautophagy, SMCR8, Rab8a, RAB39B, TBK1, protein complexes, gene expression loss
- MeSH terms
- Amyotrophic Lateral Sclerosis, Autophagy, Humans, Proteins, Frontotemporal Dementia
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
