The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease
Abstract
Significance: Decline of mitochondrial function may underlie the pathogenesis of many age-related diseases, such as Huntington’s disease (HD). Mitochondrial oxidative phosphorylation (OXPHOS) system is encoded partially by the mitochondrial genome (mtDNA). By investigating mtDNA in lymphoblast and blood samples of HD patients, we found that the expansion of OXPHOS-impairing mtDNA heteroplasmies (coexistence of mutated and wild-type mtDNA) is a molecular feature associated with the functional, motor, and cognitive aspects of HD progression, suggesting that improving mtDNA quality or restoring mitochondrial function could be a potential target for HD treatments.
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?
Accelerated expansion of mitochondrial mutations with age has been observed in primate oocytes and somatic tissues, and in lymphoblasts from patients with neurodegenerative diseases.
“The accelerated expansion of mitochondrial mutations with age has also been observed in both primate oocytes and somatic tissues 20 , as well as in lymphoblasts from patients with neurodegenerative diseases 21 .”
From Hallmarks of aging: An expanding universe (2023) · cites this paper as [21]
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
Premature ageing in mice expressing defective mitochondrial DNA polymerase
Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., et al. (2004) · Nature · doi:10.1038/nature02517 · Cited by 2,734
Mitochondrial form and function
Friedman, J. R., & Nunnari, J. (2014) · Nature · doi:10.1038/nature12985 · Cited by 1,803 · cited 1×
“Mitochondria are subcellular organelles of eukaryotes, which play vital roles in maintaining energetic and metabolic homeostasis (6, 7).”
High burden and pervasive positive selection of somatic mutations in normal human skin
Martincorena, I., Roshan, A., Gerstung, M., Ellis, P., Van Loo, P., McLaren, S., Wedge, D. C., Fullam, A., Alexandrov, L. B., Tubio, J. M., et al. (2015) · Science · doi:10.1126/science.aaa6806 · Cited by 1,770
The mitochondrial basis of aging
Sun, N., Youle, R. J., & Finkel, T. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.01.028 · Cited by 1,441
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
Panov, A. V., Gutekunst, C.-A., Leavitt, B. R., Hayden, M. R., Burke, J. R., Strittmatter, W. J., & Greenamyre, J. T. (2002) · Nature Neuroscience · doi:10.1038/nn884 · Cited by 1,030
Browne, S. E., Bowling, A. C., Macgarvey, U., Baik, M. J., Berger, S. C., Muquit, M. M. K., Bird, E. D., & Beal, M. F. (1997) · Annals of Neurology · doi:10.1002/ana.410410514 · Cited by 885
Cargo recognition failure is responsible for inefficient autophagy in Huntington’s disease
Martinez-Vicente, M., Talloczy, Z., Wong, E., Tang, G., Koga, H., Kaushik, S., de Vries, R., Arias, E., Harris, S., Sulzer, D., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2528 · Cited by 885
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.003 · Cited by 655
Self-citationKennedy, S. R., Salk, J. J., Schmitt, M. W., & Loeb, L. A. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003794 · Cited by 363
For the European Huntington Disease Network, Weydt, P., Soyal, S. M., Landwehrmeyer, G. B., & Patsch, W. (2014) · BMC Neurology · doi:10.1186/1471-2377-14-1 · Cited by 206
Guo, X., Sun, X., Hu, D., Wang, Y.-J., Fujioka, H., Vyas, R., Chakrapani, S., Joshi, A. U., Luo, Y., Mochly-Rosen, D., et al. (2016) · Nature Communications · doi:10.1038/ncomms12646 · Cited by 200
Self-citationPGC-1α modulates denervation-induced mitophagy in skeletal muscle
Vainshtein, A., Desjardins, E. M., Armani, A., Sandri, M., & Hood, D. A. (2015) · Skeletal Muscle · doi:10.1186/s13395-015-0033-y · Cited by 181
Greaves, L. C., Nooteboom, M., Elson, J. L., Tuppen, H. A. L., Taylor, G. A., Commane, D. M., Arasaradnam, R. P., Khrapko, K., Taylor, R. W., Kirkwood, T. B. L., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004620 · Cited by 172
Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy
Kopinski, P. K., Janssen, K. A., Schaefer, P. M., Trefely, S., Perry, C. E., Potluri, P., Tintos-Hernandez, J. A., Singh, L. N., Karch, K. R., Campbell, S. L., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1906896116 · Cited by 159
Flagged first, then by citations
Research works printed but not linked: 71
- 10.1016/S0140-6736(07)60111-1 · DOI
- 10.3389/fnana.2011.00055 · DOI
- 10.1038/nrneurol.2014.24 · DOI · Paper page
- 10.1038/s41593-018-0075-7 · DOI · Paper page
- 10.1007/978-3-319-71779-1_3 · DOI
- 10.1146/annurev.genet.39.110304.095751 · DOI · Paper page
- 10.1111/j.1471-4159.1985.tb07192.x · DOI
- 10.1002/ana.410390317 · DOI · Paper page
- 10.1093/hmg/ddi319 · DOI
- 10.1038/13518 · DOI
- 10.1002/ana.410430321 · DOI
- 10.1002/1531-8249(200007)48:1<72::AID-ANA11>3.0.CO;2-I · DOI
- 10.1016/S1474-4422(09)70178-4 · DOI
- 10.1212/NXG.0000000000000275 · DOI
- 10.1016/j.cell.2006.09.015 · DOI · Paper page
- 10.1074/jbc.M112.407726 · DOI
- 10.1093/hmg/ddq306 · DOI
- 10.1093/hmg/ddr475 · DOI
- 10.1038/nm.2313 · DOI
- 10.1038/cddis.2014.581 · DOI
- 10.15252/emmm.201505256 · DOI · Paper page
- 10.1073/pnas.1420103111 · DOI · Paper page
- 10.1111/ejn.12957 · DOI
- 10.1016/j.cub.2018.01.004 · DOI · Paper page
- 10.1016/j.nbd.2015.09.008 · DOI
- 10.1038/nrneurol.2014.228 · DOI
- 10.1101/cshperspect.a021220 · DOI
- 10.1016/j.cmet.2009.06.010 · DOI · Paper page
- 10.1038/ng.863 · DOI · Paper page
- 10.1038/nrg3966 · DOI
- 10.1073/pnas.1403521111 · DOI
- 10.1016/j.tcb.2018.11.004 · DOI
- 10.1093/nargab/lqaa065 · DOI
- M. Orth .; Investigators of the European Huntington’s Disease Network, Observing Huntington’s disease: The European Huntington’s Disease Network’s REGISTRY. PLoS Curr. 2, RRN1184 (2010).
- 10.1002/mds.870110204 · DOI
- 10.1212/WNL.31.10.1333 · DOI
- 10.1371/journal.pgen.1003929 · DOI
- 10.1371/journal.pgen.1003990 · DOI
- 10.1038/348651a0 · DOI · Paper page
- 10.1038/s41598-018-30255-6 · DOI
- 10.15252/emmm.201708262 · DOI
- 10.1073/pnas.1414028111 · DOI
- 10.1016/j.jns.2019.02.010 · DOI
- 10.1016/j.mad.2016.09.003 · DOI
- 10.1186/1750-1326-6-1 · DOI
- 10.1093/hmg/dds177 · DOI
- 10.1152/advan.00052.2006 · DOI
- 10.1016/j.cell.2019.06.036 · DOI
- 10.1007/978-1-4614-3722-2_11 · DOI
- 10.1016/j.bbadis.2011.11.014 · DOI
- 10.1172/JCI70911 · DOI
- 10.1016/j.bbadis.2015.08.012 · DOI
- 10.1038/srep44849 · DOI
- 10.1074/jbc.M111.309849 · DOI
- 10.1016/j.stem.2016.02.005 · DOI
- 10.15252/embj.201694892 · DOI
- 10.1016/j.cell.2019.01.022 · DOI
- 10.1093/bioinformatics/btp698 · DOI · Paper page
- E. Garrison G. Marth Haplotype-based variant detection from short-read sequencing arXiv [Preprint] (2012). https://arxiv.org/abs/1207.3907 (Accessed 7 June 2019). · arXiv
- 10.1093/bioinformatics/btp352 · DOI · Paper page
- 10.1093/nar/gkw233 · DOI
- 10.1093/nar/gkq603 · DOI
- 10.1093/nar/gkr1086 · DOI
- 10.1038/ng.2892 · DOI · Paper page
- 10.1093/nar/gkw046 · DOI
- 10.1002/0471250953.bi0123s44 · DOI
- 10.1093/nar/gkt1113 · DOI · Paper page
- I. Adzhubei, D. M. Jordan, S. R. Sunyaev, Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 76, 7–20 (2013).
- 10.1093/bioinformatics/btp528 · DOI
- 10.1371/journal.pcbi.1005867 · DOI
- 10.1186/s12864-017-4287-0 · DOI
Cited by
Sorted by citations
Hallmarks of aging: An expanding universe
López-Otín, C., Blasco, M. A., Partridge, L., Serrano, M., & Kroemer, G. (2023) · Cell · doi:10.1016/j.cell.2022.11.001 · Cited by 6,549
Oxidative stress and mitochondrial impairment: Key drivers in neurodegenerative disorders
Wen, P., Sun, Z., Gou, F., Wang, J., Fan, Q., Zhao, D., & Yang, L. (2025) · Ageing Research Reviews · doi:10.1016/j.arr.2025.102667 · Cited by 253
Metadata
- Authors
- Wang, Y., Guo, X., Ye, K., Orth, M., & Gu, Z.
- Affiliations
- Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853;
- Department of Neurology, Ulm University Hospital, D-89081 Ulm, Germany
- ORCID
- Ye, Kaixiong
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2021-07-23
- Volume
- 118
- Issue
- 30
- ISSN
- 0027-8424
- 1091-6490
- PMC
- PMC8325154
- Cited by
- 36
- References
- 14
- Language
- en
- Funders
- CHDI Foundation (NA)
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