DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer’s Disease
Open accessAbstract
DNA repair ensures genomic stability to achieve healthy ageing, including cognitive maintenance. Mutations on genes encoding key DNA repair proteins can lead to diseases with accelerated ageing phenotypes. Some of these diseases are xeroderma pigmentosum group A (XPA, caused by mutation of XPA), Cockayne syndrome group A and group B (CSA, CSB, and are caused by mutations of CSA and CSB, respectively), ataxia-telangiectasia (A-T, caused by mutation of ATM), and Werner syndrome (WS, with most cases caused by mutations in WRN). Except for WS, a common trait of the aforementioned progerias is neurodegeneration. Evidence from studies using animal models and patient tissues suggests that the associated DNA repair deficiencies lead to depletion of cellular nicotinamide adenine dinucleotide (NAD+), resulting in impaired mitophagy, accumulation of damaged mitochondria, metabolic derailment, energy deprivation, and finally leading to neuronal dysfunction and loss. Intriguingly, these features are also observed in Alzheimer’s disease (AD), the most common type of dementia affecting more than 50 million individuals worldwide. Further studies on the mechanisms of the DNA repair deficient premature ageing diseases will help to unveil the mystery of ageing and may provide novel therapeutic strategies for AD.
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?
DNA repair, Myc targets V1, and oxidative phosphorylation gene sets are linked to cellular damage or stress facilitating the progression of pathogenesis and contributing to neurodegeneration in AD.
“Conversely, 5xFAD-Dp16 also exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation, all of which are linked to cellular damage or stress facilitating the progression of the pathogenesis and contributing to neurodegeneration in AD48,49,50 (Figures 3A and S3A).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [48]
Section 3.5 (AD; page not provided) links impaired DNA repair to AD pathogenesis and describes mitochondrial dysfunction and oxidative stress in AD. The paper does not establish that the named Myc targets V1 or oxidative phosphorylation gene sets contribute to AD neurodegeneration; its mitochondrial findings are broader than that gene-set claim. (LLM, conf=0.86)
Experimental — accuracy not yet measured5xFAD-Dp16 exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation.
“Conversely, 5xFAD-Dp16 also exhibited greatly decreased NES for several gene sets, including DNA repair, Myc targets V1, and oxidative phosphorylation, all of which are linked to cellular damage or stress facilitating the progression of the pathogenesis and contributing to neurodegeneration in AD48,49,50 (Figures 3A and S3A).”
From Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model (2025) · cites this paper as [48]
Section 3.5 (AD; page unavailable) links impaired DNA repair and mitochondrial dysfunction to Alzheimer’s disease pathogenesis, supporting part of the background statement for which this review is cited. It does not address Myc targets V1 or report decreased normalized enrichment scores in 5xFAD-Dp16; those scores are presented as the citing paper’s own results in its figures. (LLM, conf=0.83)
Experimental — accuracy not yet measured
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
1 retracted
Dementia prevention, intervention, and care: 2020 report of the Lancet Commission
Livingston, G., Huntley, J., Sommerlad, A., Ames, D., Ballard, C., Banerjee, S., Brayne, C., Burns, A., Cohen-Mansfield, J., Cooper, C., et al. (2020) · The Lancet · doi:10.1016/s0140-6736(20)30367-6 · Cited by 10,430 · see citing works
RetractedThe DNA-damage response in human biology and disease
Jackson, S. P., & Bartek, J. (2009) · Nature · doi:10.1038/nature08467 · Cited by 6,092 · see citing works
Instability and decay of the primary structure of DNA
Lindahl, T. (1993) · Nature · doi:10.1038/362709a0 · Cited by 5,679 · see citing works
Lagouge, M., Argmann, C., Gerhart-Hines, Z., Meziane, H., Lerin, C., Daussin, F., Messadeq, N., Milne, J., Lambert, P., Elliott, P., et al. (2006) · Cell · doi:10.1016/j.cell.2006.11.013 · Cited by 4,057 · see citing works
Hoeijmakers, J. H. J. (2009) · New England Journal of Medicine · doi:10.1056/nejmra0804615 · Cited by 2,239 · see citing works
St-Pierre, J., Drori, S., Uldry, M., Silvaggi, J. M., Rhee, J., Jäger, S., Handschin, C., Zheng, K., Lin, J., Yang, W., et al. (2006) · Cell · doi:10.1016/j.cell.2006.09.024 · Cited by 2,233 · see citing works
Mechanisms of DNA damage, repair, and mutagenesis
Chatterjee, N., & Walker, G. C. (2017) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22087 · Cited by 2,039 · see citing works
Gene regulation and DNA damage in the ageing human brain
Lu, T., Pan, Y., Kao, S.-Y., Li, C., Kohane, I., Chan, J., & Yankner, B. A. (2004) · Nature · doi:10.1038/nature02661 · Cited by 1,874 · see citing works
Fang, E. F., Hou, Y., Palikaras, K., Adriaanse, B. A., Kerr, J. S., Yang, B., Lautrup, S., Hasan-Olive, M. M., Caponio, D., Dan, X., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-018-0332-9 · Cited by 1,740 · see citing works
Self-citationDefective repair replication of DNA in xeroderma pigmentosum
CLEAVER, J. E. (1968) · Nature · doi:10.1038/218652a0 · Cited by 1,729 · see citing works
Positional Cloning of the Werner's Syndrome Gene
Yu, C., Oshima, J., Fu, Y., Wijsman, E. M., Hisama, F. M., Alisch, R. S., Matthews, S., Nakura, J., Miki, T., Ouais, S. G., et al. (1996) · Science · doi:10.1126/science.272.5259.258 · Cited by 1,705 · see citing works
Endogenous DNA damage as a source of genomic instability in cancer
Tubbs, A., & Nussenzweig, A. (2017) · Cell · doi:10.1016/j.cell.2017.01.002 · Cited by 1,452 · see citing works
DNA double-strand break repair-pathway choice in somatic mammalian cells
Scully, R., Panday, A., Elango, R., & Willis, N. A. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0152-0 · Cited by 1,445 · see citing works
Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage
Falck, J., Coates, J., & Jackson, S. P. (2005) · Nature · doi:10.1038/nature03442 · Cited by 1,248 · see citing works
Bohr, V (1985) · Cell · doi:10.1016/0092-8674(85)90150-3 · Cited by 1,237 · cited 2× · see citing works
“In the case of TC-NER, it is primed by transcribing RNA polymerase II [25].”
BackgroundMouchiroud, L., Houtkooper, R. H., Moullan, N., Katsyuba, E., Ryu, D., Cantó, C., Mottis, A., Jo, Y.-S., Viswanathan, M., Schoonjans, K., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.016 · Cited by 1,210 · see citing works
Understanding nucleotide excision repair and its roles in cancer and ageing
Marteijn, J. A., Lans, H., Vermeulen, W., & Hoeijmakers, J. H. J. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3822 · Cited by 1,192 · see citing works
Sensing and repairing DNA double-strand breaks
Jackson, S. P. (2002) · Carcinogenesis · doi:10.1093/carcin/23.5.687 · Cited by 1,126 · see citing works
Single-strand break repair and genetic disease
Caldecott, K. W. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2380 · Cited by 1,034 · see citing works
Mechanism and regulation of human non-homologous DNA end-joining
Lieber, M. R., Ma, Y., Pannicke, U., & Schwarz, K. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1202 · Cited by 973 · see citing works
Mitophagy and Alzheimer’s Disease: Cellular and Molecular Mechanisms
Kerr, J. S., Adriaanse, B. A., Greig, N. H., Mattson, M. P., Cader, M. Z., Bohr, V. A., & Fang, E. F. (2017) · Trends in Neurosciences · doi:10.1016/j.tins.2017.01.002 · Cited by 870 · see citing works
Self-citationCockayne syndrome: Review of 140 cases
Nance, M. A., & Berry, S. A. (1992) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320420115 · Cited by 806 · see citing works
Tau and neurodegenerative disease: the story so far
Iqbal, K., Liu, F., & Gong, C.-X. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2015.225 · Cited by 806 · see citing works
Nucleotide Excision Repair in EukaryotesPreprint
Schärer, O. D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012609 · Cited by 801 · see citing works
NAD+ in Brain Aging and Neurodegenerative Disorders
Lautrup, S., Sinclair, D. A., Mattson, M. P., & Fang, E. F. (2019) · Cell Metabolism · doi:10.1016/j.cmet.2019.09.001 · Cited by 790 · see citing works
Self-citationSequential Assembly of the Nucleotide Excision Repair Factors In Vivo
Volker, M., Moné, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., DRIEL, R. V., van Zeeland, A. A., & Mullenders, L. H. F. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00281-7 · Cited by 782 · see citing works
Repair of Endogenous DNA Damage
LINDAHL, T., & BARNES, D. E. (2000) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2000.65.127 · Cited by 714 · see citing works
Homologous recombination and the repair of DNA double-strand breaks
Wright, W. D., Shah, S. S., & Heyer, W.-D. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.tm118.000372 · Cited by 713 · see citing works
Defective Mitophagy in XPA via PARP-1 Hyperactivation and NAD+/SIRT1 Reduction
Fang, E. F., Scheibye-Knudsen, M., Brace, L. E., Kassahun, H., SenGupta, T., Nilsen, H., Mitchell, J. R., Croteau, D. L., & Bohr, V. A. (2014) · Cell · doi:10.1016/j.cell.2014.03.026 · Cited by 711 · see citing works
Self-citationDNA damage and its links to neurodegeneration
Madabhushi, R., Pan, L., & Tsai, L.-H. (2014) · Neuron · doi:10.1016/j.neuron.2014.06.034 · Cited by 654 · see citing works
Molecular Mechanisms of Mammalian Global Genome Nucleotide Excision Repair
Gillet, L. C. J., & Schärer, O. D. (2006) · Chemical Reviews · doi:10.1021/cr040483f · Cited by 642 · see citing works
Fang, E. F., Kassahun, H., Croteau, D. L., Scheibye-Knudsen, M., Marosi, K., Lu, H., Shamanna, R. A., Kalyanasundaram, S., Bollineni, R. C., Wilson, M. A., et al. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2016.09.004 · Cited by 575 · see citing works
Self-citationShining a light on xeroderma pigmentosum
DiGiovanna, J. J., & Kraemer, K. H. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2011.426 · Cited by 547 · see citing works
DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency
O’Driscoll, M., Cerosaletti, K. M., Girard, P.-M., Dai, Y., Stümm, M., Kysela, B. P., Hirsch, B. A., Gennery, A. R., Palmer, S. E., Seidel, J., et al. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00408-7 · Cited by 545 · see citing works
Human RecQ Helicases in DNA Repair, Recombination, and Replication
Croteau, D. L., Popuri, V., Opresko, P. L., & Bohr, V. A. (2014) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060713-035428 · Cited by 535 · see citing works
Oxidative DNA damage in mild cognitive impairment and late-stage Alzheimer's disease
Lovell, M. A., & Markesbery, W. R. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm821 · Cited by 515 · see citing works
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487 · see citing works
Hou, Y., Lautrup, S., Cordonnier, S., Wang, Y., Croteau, D. L., Zavala, E., Zhang, Y., Moritoh, K., O’Connell, J. F., Baptiste, B. A., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1718819115 · Cited by 472 · see citing works
Self-citationSIRT1 is downregulated by autophagy in senescence and ageing
Xu, C., Wang, L., Fozouni, P., Evjen, G., Chandra, V., Jiang, J., Lu, C., Nicastri, M. C., Bretz, C. L., Winkler, J. D., et al. (2020) · Nature Cell Biology · doi:10.1038/s41556-020-00579-5 · Cited by 471 · see citing works
The premature ageing syndrome protein, WRN, is a 3′→5′ exonuclease
Huang, S., Li, B., Gray, M. D., Oshima, J., Mian, S. I., & Campisi, J. (1998) · Nature Genetics · doi:10.1038/2410 · Cited by 453 · see citing works
Kraemer, K. H., Patronas, N. J., Schiffmann, R., Brooks, B. P., Tamura, D., & DiGiovanna, J. J. (2007) · Neuroscience · doi:10.1016/j.neuroscience.2006.12.020 · Cited by 443 · see citing works
The comings and goings of nucleotide excision repair factors on damaged DNA
Riedl, T., Hanaoka, F., & Egly, J. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg489 · Cited by 439 · see citing works
Alano, C. C., Garnier, P., Ying, W., Higashi, Y., Kauppinen, T. M., & Swanson, R. A. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.5552-09.2010 · Cited by 439 · see citing works
The molecular basis and disease relevance of non-homologous DNA end joining
Zhao, B., Rothenberg, E., Ramsden, D. A., & Lieber, M. R. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-00297-8 · Cited by 389 · see citing works
Nuclear DNA damage signalling to mitochondria in ageing
Fang, E. F., Scheibye-Knudsen, M., Chua, K. F., Mattson, M. P., Croteau, D. L., & Bohr, V. A. (2016) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2016.14 · Cited by 387 · see citing works
Self-citationDNA damage responses and p53 in the aging process
Ou, H.-L., & Schumacher, B. (2018) · Blood · doi:10.1182/blood-2017-07-746396 · Cited by 377 · see citing works
Dikalova, A., Pandey, A. K., Xiao, L., Arslanbaeva, L. R., Sidorova, T. N., Lopez, M. G., Billings, F. T., Verdin, E. M., Auwerx, J. H., Harrison, D. G., et al. (2019) · Circulation Research · doi:10.1161/circresaha.119.315767 · Cited by 374 · see citing works
Mitochondrial dysfunction in ataxia-telangiectasia
Valentin-Vega, Y. A., MacLean, K. H., Tait-Mulder, J., Milasta, S., Steeves, M., Dorsey, F. C., Cleveland, J. L., Green, D. R., & Kastan, M. B. (2012) · Blood · doi:10.1182/blood-2011-08-373639 · Cited by 365 · see citing works
Mitophagy in neurodegeneration and aging
Fivenson, E. M., Lautrup, S., Sun, N., Scheibye-Knudsen, M., Stevnsner, T., Nilsen, H., Bohr, V. A., & Fang, E. F. (2017) · Neurochemistry International · doi:10.1016/j.neuint.2017.02.007 · Cited by 364 · see citing works
Self-citationDefective DNA Repair and Neurodegenerative Disease
Rass, U., Ahel, I., & West, S. C. (2007) · Cell · doi:10.1016/j.cell.2007.08.043 · Cited by 358 · see citing works
A high-fat diet and NAD(+) activate Sirt1 to rescue premature aging in Cockayne syndrome
Scheibye-Knudsen, M., Mitchell, S. J., Fang, E. F., Iyama, T., Ward, T., Wang, J., Dunn, C. A., Singh, N., Veith, S., Hasan-Olive, M. M., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.10.005 · Cited by 352 · see citing works
Self-citationGong, B., Pan, Y., Vempati, P., Zhao, W., Knable, L., Ho, L., Wang, J., Sastre, M., Ono, K., Sauve, A. A., et al. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.12.005 · Cited by 345 · see citing works
Molecular Mechanisms of Mitochondrial Autophagy/Mitophagy in the Heart
Saito, T., & Sadoshima, J. (2015) · Circulation Research · doi:10.1161/circresaha.116.303790 · Cited by 321 · see citing works
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions
Oshima, J., Sidorova, J. M., & Monnat, R. J. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.03.002 · Cited by 310 · see citing works
Specific association between the human DNA repair proteins XPA and ERCC1.
Li, L., Elledge, S. J., Peterson, C. A., Bales, E. S., & Legerski, R. J. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.11.5012 · Cited by 303 · see citing works
Weissman, L., Jo, D.-G., Sorensen, M. M., de Souza-Pinto, N. C., Markesbery, W. R., Mattson, M. P., & Bohr, V. A. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm605 · Cited by 299 · see citing works
SIRT2: Controversy and multiple roles in disease and physiology
Wang, Y., Yang, J., Hong, T., Chen, X., & Cui, L. (2019) · Ageing Research Reviews · doi:10.1016/j.arr.2019.100961 · Cited by 289 · see citing works
DNA damage response and metabolic disease
Shimizu, I., Yoshida, Y., Suda, M., & Minamino, T. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.10.008 · Cited by 286 · see citing works
NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome
Fang, E. F., Hou, Y., Lautrup, S., Jensen, M. B., Yang, B., SenGupta, T., Caponio, D., Khezri, R., Demarest, T. G., Aman, Y., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13172-8 · Cited by 279 · see citing works
Self-citationImmune cells and CNS physiology: Microglia and beyond
Norris, G. T., & Kipnis, J. (2019) · Journal of Experimental Medicine · doi:10.1084/jem.20180199 · Cited by 274 · see citing works
Mitochondrial DNA Integrity: Role in Health and Disease
Sharma, P., & Sampath, H. (2019) · Cells · doi:10.3390/cells8020100 · Cited by 272 · see citing works
Mitophagy in Alzheimer’s Disease and Other Age-Related Neurodegenerative Diseases
Cai, Q., & Jeong, Y. Y. (2020) · Cells · doi:10.3390/cells9010150 · Cited by 263 · see citing works
Increased oxidative damage in nuclear and mitochondrial DNA in mild cognitive impairment
Wang, J., Markesbery, W. R., & Lovell, M. A. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03615.x · Cited by 260 · see citing works
Rising from the RecQ-age: the role of human RecQ helicases in genome maintenance
Bohr, V. A. (2008) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2008.09.003 · Cited by 257 · see citing works
Fanconi Anemia Proteins Function in Mitophagy and Immunity
Sumpter, R., Sirasanagandla, S., Fernández, Á. F., Wei, Y., Dong, X., Franco, L., Zou, Z., Marchal, C., Lee, M. Y., Clapp, D. W., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.006 · Cited by 250 · see citing works
SENP1-Sirt3 Signaling Controls Mitochondrial Protein Acetylation and Metabolism
Wang, T., Cao, Y., Zheng, Q., Tu, J., Zhou, W., He, J., Zhong, J., Chen, Y., Wang, J., Cai, R., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.06.008 · Cited by 250 · see citing works
DNA Damage: From Threat to Treatment
Carusillo, A., & Mussolino, C. (2020) · Cells · doi:10.3390/cells9071665 · Cited by 246 · see citing works
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging
Tiwari, V., & Wilson, D. M. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.06.005 · Cited by 244 · see citing works
Maintaining genome stability in the nervous system
McKinnon, P. J. (2013) · Nature Neuroscience · doi:10.1038/nn.3537 · Cited by 229 · see citing works
Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair
Nakazawa, Y., Hara, Y., Oka, Y., Komine, O., van den Heuvel, D., Guo, C., Daigaku, Y., Isono, M., He, Y., Shimada, M., et al. (2020) · Cell · doi:10.1016/j.cell.2020.02.010 · Cited by 229 · see citing works
The Role of Microglia and Macrophages in CNS Homeostasis, Autoimmunity, and Cancer
Yin, J., Valin, K. L., Dixon, M. L., & Leavenworth, J. W. (2017) · Journal of Immunology Research · doi:10.1155/2017/5150678 · Cited by 206 · see citing works
Sugasawa, K., Akagi, J.-I., Nishi, R., Iwai, S., & Hanaoka, F. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.09.035 · Cited by 205 · see citing works
Mitochondria, Oxidative Stress and the Kynurenine System, with a Focus on Ageing and Neuroprotection
Sas, K., Szabó, E., & Vécsei, L. (2018) · Molecules · doi:10.3390/molecules23010191 · Cited by 199 · see citing works
Fassihi, H., Sethi, M., Fawcett, H., Wing, J., Chandler, N., Mohammed, S., Craythorne, E., Morley, A. M. S., Lim, R., Turner, S., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1519444113 · Cited by 199 · see citing works
Homologous recombination-mediated double-strand break repair
Wyman, C., Ristić, D., & Kanaar, R. (2004) · DNA repair · doi:10.1016/j.dnarep.2004.03.037 · Cited by 195 · see citing works
Ataxia‐telangiectasia: A review of clinical features and molecular pathology
Amirifar, P., Ranjouri, M. R., Yazdani, R., Abolhassani, H., & Aghamohammadi, A. (2019) · Pediatric Allergy and Immunology · doi:10.1111/pai.13020 · Cited by 193 · see citing works
DNA Damage Response and Immune Defense: Links and Mechanisms
Nakad, R., & Schumacher, B. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00147 · Cited by 193 · see citing works
Wilson, B. T., Stark, Z., Sutton, R. E., Danda, S., Ekbote, A. V., Elsayed, S. M., Gibson, L., Goodship, J. A., Jackson, A. P., Keng, W. T., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.110 · Cited by 179 · see citing works
Decreased base excision repair and increased helicase activity in Alzheimer's disease brain
Lovell, M. A., Xie, C., & Markesbery, W. R. (2000) · Brain Research · doi:10.1016/s0006-8993(99)02335-5 · Cited by 174 · see citing works
Genomic integrity and the ageing brain
Chow, H.-M., & Herrup, K. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn4020 · Cited by 174 · see citing works
Structural basis for the recruitment of ERCC1‐XPF to nucleotide excision repair complexes by XPA
Tsodikov, O. V., Ivanov, D., Orelli, B., Staresincic, L., Shoshani, I., Oberman, R., Schärer, O. D., Wagner, G., & Ellenberger, T. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601894 · Cited by 166 · see citing works
Structural basis of TFIIH activation for nucleotide excision repair
Kokic, G., Chernev, A., Tegunov, D., Dienemann, C., Urlaub, H., & Cramer, P. (2019) · Nature Communications · doi:10.1038/s41467-019-10745-5 · Cited by 163 · see citing works
RecQ Helicases: Conserved Guardians of Genomic Integrity
Larsen, N. B., & Hickson, I. D. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-5037-5_8 · Cited by 161 · see citing works
Ataxia telangiectasia and Rad3-related inhibitors and cancer therapy: where we stand
Mei, L., Zhang, J., He, K., & Zhang, J. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0733-6 · Cited by 157 · see citing works
Self-citationPRKDC mutations in a SCID patient with profound neurological abnormalities
Woodbine, L. J., Neal, J. A., Sasi, N. K., Shimada, M., Deem, K., Coleman, H. G., Dobyns, W. B., Ogi, T., Meek, K., Davies, E. G., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67349 · Cited by 157 · see citing works
Defective Autophagy and Mitophagy in Aging and Alzheimer’s Disease
Tran, M. K., & Reddy, P. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.612757 · Cited by 152 · see citing works
DNA damage related crosstalk between the nucleus and mitochondria
Saki, M. R., & Prakash, A. (2016) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2016.11.050 · Cited by 151 · see citing works
Base Excision Repair in the Mitochondria
Prakash, A., & Doublié, S. (2015) · Journal of Cellular Biochemistry · doi:10.1002/jcb.25103 · Cited by 147 · see citing works
Boguszewska, K., Szewczuk, M., Kaźmierczak-Barańska, J., & Karwowski, B. T. (2020) · Molecules · doi:10.3390/molecules25122857 · Cited by 144 · see citing works
Aamann, M. D., Sorensen, M. M., Hvitby, C., Berquist, B. R., Müftüoğlu, M., Tian, J., de Souza-Pinto, N. C., Scheibye‐Knudsen, M., Wilson, D. M., Stevnsner, T., et al. (2010) · The FASEB Journal · doi:10.1096/fj.09-147991 · Cited by 142 · see citing works
DNA polymerase β deficiency leads to neurodegeneration and exacerbates Alzheimer disease phenotypes
Sýkora, P., Misiak, M., Wang, Y., Ghosh, S., Leandro, G. D. S., Liu, D., Tian, J. Y., Baptiste, B. A., Cong, W., Brenerman, B. M., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1356 · Cited by 136 · see citing works
Self-citationThe role of DNA repair in brain related disease pathology
Canugovi, C., Misiak, M., Ferrarelli, L. K., Croteau, D. L., & Bohr, V. A. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.010 · Cited by 136 · see citing works
Song, X., Ma, F., & Herrup, K. (2019) · The Journal of Neuroscience · doi:10.1523/jneurosci.0774-19.2019 · Cited by 133 · see citing works
Tau‐targeted treatment strategies in Alzheimer's disease
Götz, J., Ittner, A., & Ittner, L. M. (2011) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2011.01713.x · Cited by 127 · see citing works
Diagnostic criteria for Werner syndrome based on Japanese nationwide epidemiological survey
Takemoto, M., Mori, S., Kuzuya, M., Yoshimoto, S., Shimamoto, A., Igarashi, M., Tanaka, Y., Miki, T., & Yokote, K. (2012) · Geriatrics and gerontology international/Geriatrics & gerontology international · doi:10.1111/j.1447-0594.2012.00913.x · Cited by 126 · see citing works
Genome instability in Alzheimer disease
Hou, Y., Song, H., Croteau, D. L., Akbari, M., & Bohr, V. A. (2017) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2016.04.005 · Cited by 120 · see citing works
DNA Damage Response and Immune Defense
Nastasi, C., Mannarino, L., & D’Incalci, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21207504 · Cited by 119 · see citing works
XPA: A key scaffold for human nucleotide excision repair
Sugitani, N., Sivley, R. M., Perry, K. E., Capra, J. A., & Chazin, W. J. (2016) · DNA Repair · doi:10.1016/j.dnarep.2016.05.018 · Cited by 116 · see citing works
Orelli, B., McClendon, T. B., Tsodikov, O. V., Ellenberger, T., Niedernhofer, L. J., & Schärer, O. D. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.067538 · Cited by 116 · see citing works
DNA Oxidation and Excision Repair Pathways
Lee, T.-H., & Kang, T.-H. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20236092 · Cited by 116 · see citing works
Emerging Roles of DNA Glycosylases and the Base Excision Repair Pathway
Mullins, E. A., Rodriguez, A. A., Bradley, N. P., & Eichman, B. F. (2019) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2019.04.006 · Cited by 114 · see citing works
Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing
Shiloh, Y., & Lederman, H. M. (2016) · Ageing Research Reviews · doi:10.1016/j.arr.2016.05.002 · Cited by 113 · see citing works
Ataxia‐telangiectasia: A review of movement disorders, clinical features, and genotype correlations
Levy, A., & Lang, A. E. (2018) · Movement Disorders · doi:10.1002/mds.27319 · Cited by 112 · see citing works
DNA repair: How Ku makes ends meet
Doherty, A. J., & Jackson, S. P. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00555-3 · Cited by 111 · see citing works
Huang, J., Liu, W., Doycheva, D., Gamdzyk, M., Lu, W.-T., Tang, J.-P., & Zhang, J. H. (2019) · Free Radical Biology & Medicine · doi:10.1016/j.freeradbiomed.2019.07.001 · Cited by 111 · see citing works
Self-citationMitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B
Stevnsner, T., Nyaga, S. G., de Souza-Pinto, N. C., van der Horst, G. T. J., Gorgels, T. G. M. F., Hogue, B. A., Thorslund, T., & Bohr, V. A. (2002) · Oncogene · doi:10.1038/sj.onc.1205994 · Cited by 107 · see citing works
DNA damage and mitochondria in cancer and aging
Patel, J., Baptiste, B. A., Kim, E., Hussain, M., Croteau, D. L., & Bohr, V. A. (2020) · Carcinogenesis · doi:10.1093/carcin/bgaa114 · Cited by 106 · see citing works
Pascucci, B., Lemma, T., Iorio, E., Giovannini, S., Vaz, B., Iavarone, I., Calcagnile, A., Narciso, L., Degan, P., Podo, F., et al. (2012) · Aging Cell · doi:10.1111/j.1474-9726.2012.00815.x · Cited by 104 · see citing works
Homologous Recombination and the Formation of Complex Genomic Rearrangements
Piazza, A., & Heyer, W. (2018) · Trends in Cell Biology · doi:10.1016/j.tcb.2018.10.006 · Cited by 102 · see citing works
DNA repair in the trinucleotide repeat disorders
Jones, L., Houlden, H., & Tabrizi, S. J. (2016) · The Lancet Neurology · doi:10.1016/s1474-4422(16)30350-7 · Cited by 99 · see citing works
Ataxia-telangiectasia: Immunodeficiency and survival
van Os, N. J. H., Jansen, A. F. M., van Deuren, M., Haraldsson, Á., van Driel, N. T. M., Etzioni, A., van der Flier, M., Haaxma, C. A., Morio, T., Rawat, A. K., et al. (2017) · Clinical Immunology · doi:10.1016/j.clim.2017.01.009 · Cited by 97 · see citing works
Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia
Schon, K. R., van Os, N. J. H., Oscroft, N. S., Baxendale, H., Scoffings, D. J., Ray, J., Suri, M., Whitehouse, W. P., Mehta, P. R., Everett, N., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25394 · Cited by 94 · see citing works
Molecular Mechanism of Global Genome Nucleotide Excision Repair
Petruseva, I. O., Evdokimov, A. N., & Lavrik, O. I. (2014) · Acta Naturae · doi:10.32607/20758251-2014-6-1-23-34 · Cited by 92 · see citing works
DNA Damage Repair in Huntington's Disease and Other Neurodegenerative Diseases
Maiuri, T., Suart, C., Hung, C. L.-K., Graham, K. J., Bazan, C. B., & Truant, R. (2019) · Neurotherapeutics · doi:10.1007/s13311-019-00768-7 · Cited by 92 · see citing works
Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA
Scheibye‐Knudsen, M., Tseng, A. H.-H., Jensen, M. B., Scheibye-Alsing, K., Fang, E. F., Iyama, T., Bharti, S. K., Marosi, K., Froetscher, L., Kassahun, H., et al. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1610198113 · Cited by 88 · see citing works
Self-citationIntrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia
Sharma, N. K., Lebedeva, M. A., Thomas, T., Kovalenko, O. A., Stumpf, J. D., Shadel, G. S., & Santos, J. H. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.11.002 · Cited by 78 · see citing works
Neurodegeneration in ataxia‐telangiectasia: Multiple roles of ATM kinase in cellular homeostasis
Choy, K. R., & Watters, D. J. (2017) · Developmental Dynamics · doi:10.1002/dvdy.24522 · Cited by 77 · see citing works
DNA repair in the trinucleotide repeat disorders
Jones, L., Houlden, H., & Tabrizi, S. J. (2017) · UCL Discovery (University College London) · Cited by 76 · see citing works
Mitophagy and DNA damage signaling in human aging
Babbar, M., Basu, S., Yang, B., Croteau, D. L., & Bohr, V. A. (2020) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2020.111207 · Cited by 73 · see citing works
A change of view: homologous recombination at single-molecule resolution
Kaniecki, K., Tullio, L. D., & Greene, E. C. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.92 · Cited by 72 · see citing works
APE1 deficiency promotes cellular senescence and premature aging features
Li, M., Yang, X., Lu, X., Dai, N., Zhang, S., Cheng, Y., Zhang, L., Yang, Y., Liu, Y., Yang, Z., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky326 · Cited by 72 · see citing works
Li, X., Fang, E. F., Scheibye‐Knudsen, M., Cui, H., Qiu, L., Li, J., He, Y., Huang, J., Bohr, V. A., Ng, T. B., et al. (2014) · Scientific Reports · doi:10.1038/srep06434 · Cited by 70 · see citing works
Self-citationNucleotide Excision Repair in Eukaryotes
Goosen, N. (2013) · Encyclopedia of Biological Chemistry · doi:10.1016/b978-0-12-378630-2.00491-6 · Cited by 67 · see citing works
Base excision repair in the mammalian brain: Implication for age related neurodegeneration
Sýkora, P., Wilson, D. M., & Bohr, V. A. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.04.005 · Cited by 59 · see citing works
Xeroderma Pigmentosum – Facts and Perspectives
Lehmann, J., Seebode, C., Martens, M. C., & Emmert, S. (2018) · Anticancer Research · doi:10.21873/anticanres.12335 · Cited by 57 · see citing works
Molecular basis for assembly of the shieldin complex and its implications for NHEJ
Liang, L., Feng, J., Zuo, P., Yang, J., Lu, Y., & Yin, Y. (2020) · Nature Communications · doi:10.1038/s41467-020-15879-5 · Cited by 56 · see citing works
Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD + signaling
Okur, M. N., Fang, E. F., Fivenson, E. M., Tiwari, V., Croteau, D. L., & Bohr, V. A. (2020) · Aging Cell · doi:10.1111/acel.13268 · Cited by 52 · see citing works
Self-citationShort-term NAD+ supplementation prevents hearing loss in mouse models of Cockayne syndrome
Okur, M. N., Mao, B., Kimura, R., Haraczy, S. J., Fitzgerald, T. S., Edwards‐Hollingsworth, K., Tian, J. Y., Osmani, W. A., Croteau, D. L., Kelley, M. W., et al. (2020) · npj Aging and Mechanisms of Disease · doi:10.1038/s41514-019-0040-z · Cited by 51 · see citing works
Contribution of defective mitophagy to the neurodegeneration in DNA repair-deficient disorders
Scheibye-Knudsen, M., Fang, E. F., Croteau, D. L., & Bohr, V. A. (2014) · Autophagy · doi:10.4161/auto.29321 · Cited by 50 · cited 1× · see citing works
“XPA proteins are localized in the nucleus, but are not present in mitochondria, indicating that the underlying mechanism of defective mitophagy in XPA revolves around signaling from nucleus to mitochondria, and that mitochondrial defects may be a secondary response to nuclear DNA repair defects [100,101].”
BackgroundSelf-citationMisiak, M., Greeno, R. V., Baptiste, B. A., Sýkora, P., Liu, D., Cordonnier, S. A., Fang, E. F., Croteau, D. L., Mattson, M. P., & Bohr, V. A. (2016) · Aging Cell · doi:10.1111/acel.12541 · Cited by 50 · see citing works
Self-citationA key interaction with RPA orients XPA in NER complexes
Topolska‐Woś, A. M., Sugitani, N., Cordoba, J. J., Meur, K. V. L., Meur, R. A. L., Kim, H. S., Yeo, J.-E., Rosenberg, D. J., Hammel, M., Schärer, O. D., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1231 · Cited by 47 · see citing works
Abeti, R., Zeitlberger, A. M., Peelo, C., Fassihi, H., Sarkany, R., Lehmann, A. R., & Giunti, P. (2018) · British Journal of Pharmacology · doi:10.1111/bph.14557 · Cited by 39 · see citing works
Lautrup, S., Caponio, D., Cheung, H., Piccoli, C., Stevnsner, T., Chan, W., & Fang, E. F. (2019) · Biogerontology · doi:10.1007/s10522-019-09798-2 · Cited by 37 · see citing works
Self-citationBrochier, C., & Langley, B. C. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0210-9 · Cited by 36 · see citing works
McKnight, K. L., Swanson, K. V., Austgen, K., Richards, C. A., Mitchell, J. K., McGivern, D. R., Fritch, E. J., Johnson, J. K., Remlinger, K. S., Magid-Slav, M., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2014940117 · Cited by 36 · see citing works
Effects of DNA end configuration on XRCC4-DNA ligase IV and its stimulation of Artemis activity
Gerodimos, C. A., Chang, H. H., Watanabe, G., & Lieber, M. R. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.798850 · Cited by 33 · see citing works
Luo, G., Xiao, L., Wang, D., Wang, N., Luo, C., Yang, X., & Hao, L. (2020) · Toxicology in Vitro · doi:10.1016/j.tiv.2020.104808 · Cited by 32 · see citing works
DNA base excision repair activities in mouse models of Alzheimer's disease
Weissman, L., de Souza-Pinto, N. C., Mattson, M. P., & Bohr, V. A. (2008) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2008.02.014 · Cited by 31 · see citing works
Human DNA ligase IV is able to use NAD+ as an alternative adenylation donor for DNA ends ligation
Chen, S.-H., & Yu, X. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky1202 · Cited by 29 · see citing works
Cockayne syndrome--an audiologic and temporal bone analysis.
Lj, S., Dp, M., & Farkashidy, J. (1984) · PubMed · Cited by 26 · see citing works
Intrinsic DNA damage repair deficiency results in progressive microglia loss and replacement
Zhang, X., Heng, Y., Kooistra, S. M., van Weering, H. R. J., Brummer, M. L., Gerrits, E., Wesseling, E. M., Brouwer, N., Nijboer, T. W., Dubbelaar, M. L., et al. (2020) · Glia · doi:10.1002/glia.23925 · Cited by 24 · see citing works
Rat Model of Cockayne Syndrome Neurological Disease
Xu, Y., Wu, Z., Liu, L., Liu, J., & Wang, Y. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.09.028 · Cited by 23 · see citing works
Kunkel, T. A. (2015) · Cell · doi:10.1016/j.cell.2015.11.028 · Cited by 22 · see citing works
Li, W., Gu, X., Zhang, X., Kong, J., Ding, N., Qi, Y., Zhang, Y., Wang, J., & Huang, D. (2015) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2015.07.002 · Cited by 21 · see citing works
Transcriptional consequences of XPA disruption in human cell lines
Manandhar, M., Lowery, M. G., Boulware, K. S., Lin, K., Lu, Y., & Wood, R. D. (2017) · DNA repair · doi:10.1016/j.dnarep.2017.06.028 · Cited by 21 · see citing works
Two‐way crosstalk between BER and c‐NHEJ repair pathway is mediated by Pol‐β and Ku70
Wen, X., Ci, S., Li, M., Wang, M., Dianov, G. L., Ma, Z., Li, L., Hua, K. Q., Alagamuthu, K. K., Qing, L., et al. (2019) · The FASEB Journal · doi:10.1096/fj.201900308r · Cited by 14 · see citing works
Calafiore, M., Copani, A., & Deng, W. (2011) · Journal of Neuroscience Research · doi:10.1002/jnr.22780 · Cited by 13 · see citing works
Uribe-Bojanini, E., Hernandez-Quiceno, S., & Cock-Rada, A. M. (2017) · Case Reports in Medicine · doi:10.1155/2017/7162737 · Cited by 12 · see citing works
ERCC1–XPF targeting to psoralen–DNA crosslinks depends on XPA and FANCD2
Sabatella, M., Pines, A., Slyšková, J., Vermeulen, W., & Lans, H. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-019-03264-5 · Cited by 9 · see citing works
Flagged first, then by citations
1 of the 150 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- [128]Oshima J. Martin G.M. Hisama F.M. Werner Syndrome GeneReviews(®) Adam M.P. Ardinger H.H. Pagon R.A. Wallace S.E. Bean L.J.H. Stephens K. Amemiya A. University of Washington Seattle, WA, USA 1993 20301687
Cited by
Sorted by citations
Metformin's Mechanisms in Attenuating Hallmarks of Aging and Age-Related Disease
Cheng, F., Liu, Y.-L., Du, J., & Lin, J. (2022) · Aging and Disease · doi:10.14336/ad.2021.1213 · Cited by 69 · see citing works
SIRT3 regulates mitochondrial biogenesis in aging-related diseases
Li, H., & Cai, Z. (2022) · Journal of Biomedical Research · doi:10.7555/jbr.36.20220078 · Cited by 51 · see citing works
Emerging strategies, applications and challenges of targeting NAD+ in the clinic
Zhang, J., Wang, H., Lautrup, S., Nilsen, H. L., Treebak, J. T., Watne, L. O., Selbæk, G., Wu, L. E., Omland, T., Pirinen, E., et al. (2025) · Nature Aging · doi:10.1038/s43587-025-00947-6 · Cited by 58 · see citing works
Self-citationSpina, E., Ferrari, R. R., Pellegrini, E., Colombo, M. M., Poloni, T. E., Guaita, A., & Davin, A. (2025) · Cells · doi:10.3390/cells14030229 · Cited by 41 · see citing works
Wong, G. C., & Chow, H. (2022) · Journal of Alzheimer s Disease · doi:10.3233/jad-220203 · Cited by 40 · see citing works
DNA Damage-Mediated Neurotoxicity in Parkinson’s Disease
Wang, Z., Li, Y., Pu, J., & Zhang, B. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24076313 · Cited by 39 · see citing works
Pan, X., Yun, J., Coban‐Akdemir, Z., Jiang, X., Wu, E., Huang, J. H., Sahni, N., & Yi, S. S. (2023) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2023.02.004 · Cited by 36 · see citing works
DNA Damage and Parkinson’s Disease
Pfeifer, G. P. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25084187 · Cited by 31 · see citing works
He, J., Liu, F., Xu, T., Ma, J., Yu, H., Zhao, J., Xie, Y., Luo, L., Yang, Q., Lou, T., et al. (2023) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2023.115807 · Cited by 28 · see citing works
ATM and p53 in aging and cancer: a double-edged sword in genomic integrity
Pandey, S. N., Afzal, M., Uikey, J., Ganesan, S., Mishra, S., Bansal, P., Kazmi, I. A., Alzarea, S. I., Almalk, W. H., Goyal, K., et al. (2025) · Biogerontology · doi:10.1007/s10522-025-10249-4 · Cited by 21 · see citing works
Polyzos, A. A., Cheong, A. W. Y., Yoo, J. H., Blagec, L., Toprani, S. M., Nagel, Z. D., & McMurray, C. T. (2024) · Nature Communications · doi:10.1038/s41467-024-51906-5 · Cited by 19 · see citing works
The regulatory roles of the E3 ubiquitin ligase NEDD4 family in DNA damage response
Lu, X., Xu, H., Xu, J., Lu, S., You, S., Huang, X., Zhang, N., & Zhang, L. (2022) · Frontiers in Physiology · doi:10.3389/fphys.2022.968927 · Cited by 17 · see citing works
Developing diagnostic biomarkers for Alzheimer's disease based on histone lactylation-related gene
Guo, S., Zhu, W., Bian, Y., Li, Z., Zheng, H., Li, W., Yang, Y., Ji, X., & Zhang, B. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e37807 · Cited by 16 · see citing works
Paudel, B., Jeong, S., Peña-Martinez, C., Rickman, A. D., Haluck-Kangas, A., Bartom, E. T., Fredriksen, K., Affaneh, A., Kessler, J. A., Mazzulli, J. R., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-44465-8 · Cited by 15 · see citing works
Ranganathan, R., Sapozhnikov, G., Wang, N., Li, S., & Song, Y. (2023) · Translational Medicine of Aging · doi:10.1016/j.tma.2023.06.004 · Cited by 13 · see citing works
Zhou, S., Ma, G., Luo, H., Shan, S., Xiong, J., & Cheng, G. (2022) · The Journals of Gerontology Series A · doi:10.1093/gerona/glac179 · Cited by 13 · see citing works
Nuclear DJ-1 Regulates DNA Damage Repair via the Regulation of PARP1 Activity
Wang, Z., Liu, Y., Li, Y., Wei, Q., Lin, R.-R., Kang, R., Ruan, Y., Lin, Z., Xue, N., Zhang, B., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24108651 · Cited by 11 · see citing works
Zheng, N., Cao, R.-L., Liu, D., Liu, P., Zhao, X., Zhang, S.-X., Huang, M., Zheng, Z., Chen, G., & Zou, L. (2025) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2025.01.014 · Cited by 10 · see citing works
Bilkis, R., Lake, R. J., & Fan, H.-Y. (2025) · Cells · doi:10.3390/cells14040239 · Cited by 9 · see citing works
SIRT1 Activators as Geroprotective Agents in Brain Aging: Mechanisms and Therapeutic Potential
Alameen, A. A. M., Al-Kuraishy, H. M., Al-Gareeb, A. I., Alexiou, A. T., Papadakis, M., Faheem, S. A., & Batiha, G. E. (2026) · NeuroMolecular Medicine · doi:10.1007/s12017-026-08923-y · Cited by 10 · see citing works
Modulation of Synaptic Plasticity Genes Associated to DNA Damage in a Model of Huntington’s Disease
Spies, J., Covarrubias‐Pinto, A., Cárcamo, C., Arancibia, Y., Salazar, F., Paredes-Martínez, C., Carola Otth, L., Castro, M. A., & Zambrano, Á. (2023) · Neurochemical Research · doi:10.1007/s11064-023-03889-w · Cited by 8 · see citing works
Liu, Y. (2024) · Molecular Biology Reports · doi:10.1007/s11033-023-09162-1 · Cited by 8 · see citing works
Araya, P., Niemeyer, B., Schade, K., Dunn, L. N., Waugh, K., Busquet, N., Brindley, C., Brown, C., Winkler, C., Lyford, H. R., et al. (2025) · iScience · doi:10.1016/j.isci.2025.113130 · Cited by 7 · see citing works
Kacemi, R., & Campos, M. G. (2025) · Foods · doi:10.3390/foods14030347 · Cited by 7 · see citing works
Analyzing Facial Asymmetry in Alzheimer’s Dementia Using Image-Based Technology
Chien, C., Sung, J.-L., Wang, C.-P., Yen, C., & Yang, Y. (2023) · Biomedicines · doi:10.3390/biomedicines11102802 · Cited by 7 · see citing works
DNA Damage and Senescence in the Aging and Alzheimer’s Disease Cortex Are Not Uniformly Distributed
Gutta, G., Mehta, J., Kingston, R., Xie, J., Brenner, E., Ma, F., & Herrup, K. (2024) · Biomedicines · doi:10.3390/biomedicines12061327 · Cited by 6 · see citing works
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome
Rajamani, G., Stafki, S. A., Daugherty, A. L., Mantyh, W. G., Littel, H. R., Bruels, C. C., Pacak, C. A., Robbins, P. D., Niedernhofer, L. J., Abiona, A., et al. (2024) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000200309 · Cited by 5 · see citing works
Paudel, B., Jeong, S., Peña-Martinez, C., Rickman, A. D., Haluck-Kangas, A., Bartom, E. T., Fredriksen, K., Affaneh, A., Kessler, J. A., Mazzulli, J. R., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.09.08.507157 · Cited by 5 · see citing works
Adaptive and Maladaptive DNA Breaks in Neuronal Physiology and Alzheimer’s Disease
Roberts, A., Swerdlow, R. H., & Wang, N. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25147774 · Cited by 4 · see citing works
Reactive Oxygen Species in Neurodegenerative Disorders
Sharma, A., Tiwari, S., Sharma, H., Pathak, R., & Khan, F. (2025) · Advances in medical diagnosis, treatment, and care (AMDTC) book series · doi:10.4018/979-8-3693-7919-6.ch012 · Cited by 4 · see citing works
Schmidt, M. Y., Cuervo, A. M., Double, K. S., Ehninger, D., Goldberg, M. S., Harvey, K., Hoeijmakers, J. H. J., Luk, K. C., Mastroberardino, P. G., Moore, D. J., et al. (2026) · npj Parkinson s Disease · doi:10.1038/s41531-025-01239-x · Cited by 4 · see citing works
Regulation of TAR DNA binding protein 43 (TDP-43) homeostasis by cytosolic DNA accumulation
Yang, C., Leifer, C. A., Lammerding, J., & Hu, F. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107999 · Cited by 3 · see citing works
Kitakaze, M., Chijimatsu, R., Vecchione, A. M., Kitagawa, T., Doki, Y., Eguchi, H., & Ishii, H. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147544 · Cited by 3 · see citing works
Wang, H., Siow, R. C. M., Schmauck‐Medina, T., Zhang, J., Sandset, P. M., Filshie, C., Lund, Ø., Partridge, L., Bergersen, L. H., Rasmussen, L. J., et al. (2024) · The Journals of Gerontology Series A · doi:10.1093/gerona/glae029 · Cited by 3 · see citing works
Self-citationVijayakumar, S., Yesudhason, B. V., Anandharaj, J. L., Vedakumari, S. W., & Christyraj, J. R. S. S. (2024) · Molecular Biology Reports · doi:10.1007/s11033-024-09693-1 · Cited by 4 · see citing works
Wu, M., Cheng, J., Hu, Y., Xie, J., Huang, J., Jiang, J., Chen, S., Zhang, Z., Chen, S., Li, H., et al. (2025) · International Journal of Radiation Oncology*Biology*Physics · doi:10.1016/j.ijrobp.2025.06.3885 · Cited by 3 · see citing works
Suga, N., Ikeda, Y., Yoshikawa, S., & Matsuda, S. (2023) · Exploration of Medicine · doi:10.37349/emed.2023.00180 · Cited by 2 · see citing works
Dong, Y. J., Huang, H., & Wang, A. (2024) · BMJ Open · doi:10.1136/bmjopen-2023-078934 · Cited by 2 · see citing works
Autophagy and bioenergetics in aging
Zhang, J., Wang, H., & Fang, E. F. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-91617-2.00002-x · Cited by 2 · see citing works
Self-citationNeuroprotective Effects of Lutein: Considering Microglial Activation and Oxidative Stress
Jain, A., Srivastava, S., Kumar, S., Sahu, R., Tariq, M., & Ashraf, G. M. (2026) · Springer eBooks · doi:10.1007/978-981-95-4751-7_5 · Cited by 1 · see citing works
Pang, C., Sun, X., Zhao, J., Liang, X., Sun, L., Lin, Q., Sun, J., Lu, X., Dong, Q., Zhang, L., et al. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2519586123 · Cited by 1 · see citing works
Poulin, M., & Golime, R. (2026) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.5c00771 · Cited by 2 · see citing works
Mechanisms involved in prevention of dementia and promotion of healthy aging by resveratrol
Tiwari, B. K., & Pandey, K. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-90581-7.00007-4 · Cited by 1 · see citing works
Hacıoğlu, C., Kar, F., & Şahin, M. C. (2023) · Biological Trace Element Research · doi:10.1007/s12011-023-03908-5
Phenolic monoterpene Bakuchiol ameliorates age related ParkinsonismPreprint
Ranjan, S., Khan, S., Sharma, S., Trivedi, M., Trivedi, S., & Pandey, R. (2024) · Research Square · doi:10.21203/rs.3.rs-4652207/v1
Unveiling the UFMylation Pathway: Implications in Neurodegenerative Diseases
Dong, Y.-R., Wang, J.-R., Yang, Y., Chen, Q.-Z., Jiang, Y., Yang, X., Zhou, M.-C., Cao, S.-P., Zeng, S.-X., Zang, C., et al. (2026) · Journal of Molecular Biology · doi:10.1016/j.jmb.2026.169772
Patel, S., Moser, M., Miller, N., Guo, G., McElroy, C. A., & Hester, M. E. (2026) · Developmental Biology · doi:10.1016/j.ydbio.2026.03.019
Mitiagin, Y., Trop-Steinberg, S., Zemach, N., Ronen, S. A., & Barzilai, A. (2026) · Springer eBooks · doi:10.1007/978-3-032-21135-4_26
Metabolic dysregulation in Alzheimer’s disease: Mechanisms, markers, and therapeutic prospects
Mittal, R., Priya, Banerjee, J., & Dixit, A. (2026) · International review of neurobiology · doi:10.1016/bs.irn.2026.05.011
Therapeutic targeting of DNA repair pathway dysregulation in aging, cancer, and neurodegeneration
Kumar, V., Kashif, M., Singh, V., Rawat, R. S., Khan, A., Sarkar, G. C., & Majood, M. (2026) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2026.2683686
Wilson, D. V., Acharjee, A., Duggal, N. A., Hombrebueno, J. R., Jones, S. W., Lewis, J. W., de Magalhães, J. P., Martínez-Serrato, Y., Mazaheri, A., McGettrick, H. M., et al. (2026) · PLoS ONE · doi:10.1371/journal.pone.0346347
Novel proteomics and neuropathology of NOTCH2NLC-related neuronal intranuclear inclusion disease
詹飞霞, Zhu, J., Yang, W., Cao, Y., Shen, X., Lv, W., Wei, J., Huang, X., Hou, X. S., 栾兴华, et al. (2026) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2026.1827292
Mosalam, E. M., Abdallah, M. S., Gardouh, A. R., Hamza, E., Bahaa, M. M., Nazih, M., Al-Dhelaan, R. A., & Kamal, N. (2026) · Biogerontology · doi:10.1007/s10522-026-10480-7
Dietary preference, biological aging, and incident dementia: a prospective cohort study
Sun, M., Huang, F., Sun, N., Ding, H., Shi, F., Wang, S., Yao, J., & He, Q. (2026) · GeroScience · doi:10.1007/s11357-026-02567-3
Nukala, K. M., Williquett, B., Lilienthal, A. J., Thompson, D. M., Massingham, J. N., Lye, S. H., Yu, A., Lear, B. C., Neely, G. G., Chtarbanova, S., et al. (2026) · Neurobiology of Disease · doi:10.1016/j.nbd.2026.107623
- Authors
- Wang, H., Lautrup, S., Caponio, D., Zhang, J., & Fang, E.
- Affiliations
- University of Oslo (NO)
- Central South University (CN)
- Corresponding author
- Fang, Evandro
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2021-06-23
- Volume
- 22
- Issue
- 13
- Pages
- 6748
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC8268089
- OpenAlex
- W3177212004
- Cited by
- 55
- References
- 150
- Citations by year
- 2026: 15 · 2025: 9 · 2024: 13 · 2023: 9 · 2022: 8 · 2021: 1
- FWCI
- 0.81
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- NORA - Norwegian Open Research Archives (submittedVersion, cc-by)
- Funders
- HELSE SØR-ØST (#2017056, #2020001, #2021021)
- Research Council of Norway (#262175, #277813)
- The National Natural Science Foundation of China (#81971327)
- Akershus University Hospital Strategic grant (#269901)
- the KAPPA programme by Technology Agency of the Czech Republic and the Research Council of Norway joint grant (T001000215)
- The China Scholarship Council (NO.201906170070)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
- Keywords
- DNA damage, neurodegeneration, accelerated aging, Alzheimer's disease, DNA repair, XPA, Cockayne syndrome, ataxia telangiectasia, Werner syndrome, NAD+ depletion, mitophagy, mitochondrial dysfunction, neuronal dysfunction
- MeSH terms
- Aging, Alzheimer Disease, Animals, DNA Damage, DNA Repair, Humans, Mutation, Neurodegenerative Diseases, Genomic Instability
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
