Cockayne syndrome: Clinical features, model systems and pathways
Open accessAbstract
Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties, leading to death by 12 years of age on average. It is an autosomal recessive disorder, with a prevalence of approximately 2.5 per million. There are several phenotypes (1-3) and two complementation groups (CSA and CSB), and CS overlaps with xeroderma pigmentosum (XP). It has been considered a progeria, and many of the clinical features resemble accelerated aging. As such, the study of CS affords an opportunity to better understand the underlying mechanisms of aging. The molecular basis of CS has traditionally been ascribed to defects in transcription and transcription-coupled nucleotide excision repair (TC-NER). However, recent work suggests that defects in base excision DNA repair and mitochondrial functions may also play key roles. This opens up the possibility for molecular interventions in CS, and by extrapolation, possibly in aging.
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?
Conditions with mutations in NER pathways include xeroderma pigmentosum (XP), Cockayne syndrome (CS), trichothiodystrophy (TTD), UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS).
“These include the conditions with mutations in NER pathways (presented in Table 3) such as xeroderma pigmentosum (XP) [149,150], Cockayne syndrome (CS) [151,152], trichothiodystrophy (TTD) [153,154,155,156], UV-sensitive syndrome (UV-SS), and cerebro-oculo-facioskeletal syndrome (COFS) [157,158,159].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [151]
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
Fousteri, M., Vermeulen, W., van Zeeland, A. A., & Mullenders, L. H. F. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.06.029 · Cited by 387 · see citing works
RetractedTHE GENETICS OF CAENORHABDITIS ELEGANS
Brenner, S. (1974) · Genetics · doi:10.1093/genetics/77.1.71 · Cited by 14,985 · see citing works
Kenyon, C. J. (2010) · Nature · doi:10.1038/nature08980 · Cited by 2,739 · see citing works
Cantó, C., Houtkooper, R. H., Pirinen, E., Youn, D. Y., Oosterveer, M. H., Cen, Y., Fernandez-Marcos, P. J., Yamamoto, H., Andreux, P. A., Cettour-Rose, P., et al. (2012) · Cell Metabolism · doi:10.1016/j.cmet.2012.04.022 · Cited by 1,238 · 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
Hamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962 · see citing works
Cockayne 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
Le Belle, J. E., Orozco, N. M., Paucar, A. A., Saxe, J. P., Mottahedeh, J., Pyle, A. D., Wu, H., & Kornblum, H. I. (2011) · Cell Stem Cell · doi:10.1016/j.stem.2010.11.028 · Cited by 789 · see citing works
Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., & Hoeijmakers, J. H. J. (1992) · Cell · doi:10.1016/0092-8674(92)90390-x · Cited by 729 · 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 repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Lehmann, A. (2003) · Biochimie · doi:10.1016/j.biochi.2003.09.010 · Cited by 496 · see citing works
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487 · see citing works
Bradford, P. T., Goldstein, A. M., Tamura, D., Khan, S. G., Ueda, T., Boyle, J., Oh, K.-S., Imoto, K., Inui, H., Moriwaki, S.-I., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.083022 · Cited by 480 · see citing works
Lai, C.-H., Chou, C.-Y., Ch’ang, L.-Y., Liu, C.-S., & Lin, W. (2000) · Genome Research · doi:10.1101/gr.10.5.703 · Cited by 473 · see citing works
The Molecular Basis of CRL4DDB2/CSA Ubiquitin Ligase Architecture, Targeting, and Activation
Fischer, E. S., Scrima, A., Böhm, K., Matsumoto, S., Lingaraju, G. M., Faty, M., Yasuda, T., Cavadini, S., Wakasugi, M., Hanaoka, F., et al. (2011) · Cell · doi:10.1016/j.cell.2011.10.035 · Cited by 460 · see citing works
Klass, M. R. (1983) · Mechanisms of Ageing and Development · doi:10.1016/0047-6374(83)90082-9 · Cited by 449 · 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
Mayne, L. V., & Lehmann, A. R. (1982) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/0027-5107(82)90047-1 · Cited by 420 · see citing works
A Genetic Pathway Conferring Life Extension and Resistance to UV Stress in Caenorhabditis elegans
Murakami, S., & Johnson, T. E. (1996) · Genetics · doi:10.1093/genetics/143.3.1207 · Cited by 394 · see citing works
Dwarfism with retinal atrophy and deafness
Cockayne, E. A. (1936) · Archives of Disease in Childhood · doi:10.1136/adc.11.61.1 · Cited by 377 · see citing works
Citterio, E., van den Boom, V., Schnitzler, G. R., Kanaar, R., Bonte, E. J., Kingston, R. E., Hoeijmakers, J. H. J., & Vermeulen, W. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.20.7643-7653.2000 · Cited by 371 · see citing works
Cheng, A., Yang, Y., Zhou, Y., Maharana, C., Lu, D., Peng, W., Liu, Y., Wan, R., Marosi, K., Misiak, M., et al. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2015.10.013 · Cited by 371 · see citing works
Self-citationMintun, M. A., Lundstrom, B. N., Snyder, A. Z., Vlassenko, A. G., Shulman, G. L., & Raichle, M. E. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111164398 · Cited by 362 · 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-citationvan der Horst, G. T. J., STEEG, H. V., Berg, R. J. W., van Gool, A. J., de Wit, J., Weeda, G., Morreau, H., Beems, R. B., van Kreijl, C. F., de Gruijl, F. R., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80223-8 · Cited by 334 · see citing works
Protecting the mitochondrial powerhouse
Scheibye‐Knudsen, M., Fang, E. F., Croteau, D. L., Wilson, D. M., & Bohr, V. A. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.11.002 · Cited by 330 · see citing works
Self-citationDNA repair deficiency and neurological disease
McKinnon, P. J. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2559 · Cited by 323 · see citing works
Yu, E., Calvert, P. A., Mercer, J. R., Harrison, J. B., Baker, L. L., Figg, N. L., Kumar, S., Wang, J. C., Hurst, L. A., Obaid, D. R., et al. (2013) · Circulation · doi:10.1161/circulationaha.113.002271 · Cited by 283 · see citing works
Cockayne syndrome and xeroderma pigmentosum
Rapin, I., Lindenbaum, Y., Dickson, D. W., Kraemer, K. H., & Robbins, J. H. (2000) · Neurology · doi:10.1212/wnl.55.10.1442 · Cited by 255 · see citing works
Cockayne syndrome: The expanding clinical and mutational spectrum
Laugel, V. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.02.006 · Cited by 239 · see citing works
Scrima, A., Fischer, E. S., Iwai, S., Gut, H., & Thomä, N. H. (2011) · Worldwide Protein Data Bank · doi:10.2210/pdb4a08/pdb · Cited by 233 · see citing works
Villa‐Bellosta, R., Rivera, J., Osorio, F. G., Acín‐Pérez, R., Enrı́quez, J. A., López-Otı́n, C., & Andrés, V. (2013) · Circulation · doi:10.1161/circulationaha.112.000571 · Cited by 219 · see citing works
Scheibye‐Knudsen, M., Ramamoorthy, M., Sýkora, P., Maynard, S., Lin, P., Minor, R. K., Wilson, D. M., Cooper, M. P., Spencer, R. G. S., de Cabo, R., et al. (2012) · The Journal of Experimental Medicine · doi:10.1084/jem.20111721 · Cited by 203 · see citing works
Self-citationMitochondria-associated membranes as hubs for neurodegeneration
Krols, M., Isterdael, G. V., Asselbergh, B., Kremer, A., Lippens, S., Timmerman, V., & Janssens, S. (2016) · Acta Neuropathologica · doi:10.1007/s00401-015-1528-7 · Cited by 200 · see citing works
Enoiu, M., Jiricny, J., & Schärer, O. D. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks670 · Cited by 183 · see citing works
Kamenisch, Y., Fousteri, M. I., Knoch, J., von Thaler, A., Fehrenbacher, B., Kato, H., Becker, T., Dollé, M. E. T., Kuiper, R., Majora, M., et al. (2010) · The Journal of Experimental Medicine · doi:10.1084/jem.20091834 · Cited by 182 · see citing works
The temporal scaling of Caenorhabditis elegans ageing
Stroustrup, N., Anthony, W., Nash, Z. M., Gowda, V., Gomez, A., López-Moyado, I. F., Apfeld, J., & Fontana, W. (2016) · Nature · doi:10.1038/nature16550 · Cited by 181 · 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
Mitochondrial oxidative damage and apoptosis in age-related hearing loss
Someya, S., & Prolla, T. A. (2010) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2010.04.006 · Cited by 169 · see citing works
Ubiquitin immunoreactive structures in normal human brains. Distribution and developmental aspects.
Dickson, D. W., Wertkin, A. M., Kress, Y., Ksiȩżak-Reding, H., & Yen, S.-H. (1990) · PubMed · Cited by 169 · see citing works
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes
Livingston, J. H., Stivaros, S. M., Warren, D., & Crow, Y. J. (2013) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.12359 · Cited by 157 · see citing works
Weidenheim, K. M., Dickson, D. W., & Rapin, I. (2009) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2009.07.006 · Cited by 156 · see citing works
Wei, L., Nakajima, S., Böhm, S., Bernstein, K. A., Shen, Z., Tsang, M., Levine, A. S., & Lan, L. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1507105112 · Cited by 147 · 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
Self-citationDwarfism with Retinal Atrophy and Deafness
Cockayne, E. A. (1946) · Archives of Disease in Childhood · doi:10.1136/adc.21.105.52 · Cited by 141 · see citing works
Love, D. C., Ghosh, S. K., Mondoux, M. A., Fukushige, T., Wang, P., Wilson, M. A., Iser, W. B., Wolkow, C. A., Krause, M., & Hanover, J. A. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911857107 · Cited by 140 · see citing works
Lans, H., Marteijn, J. A. F., Schumacher, B., Hoeijmakers, J. H. J., Jansen, G., & Vermeulen, W. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000941 · Cited by 131 · see citing works
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
Stevnsner, T., Müftüoğlu, M., Aamann, M. D., & Bohr, V. A. (2008) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2008.04.009 · Cited by 129 · see citing works
Self-citationA Syndrome Resembling Progeria: A Review of Two Cases
Neill, C. A., & Dingwall, M. M. (1950) · Archives of Disease in Childhood · doi:10.1136/adc.25.123.213 · Cited by 128 · see citing works
Mitochondrial Ca2+ and neurodegeneration
Calí, T., Ottolini, D., & Brini, M. (2012) · Cell Calcium · doi:10.1016/j.ceca.2012.04.015 · Cited by 128 · see citing works
Lehmann, A. R., Kirk‐Bell, S., & Mayne, L. V. (1979) · PubMed · Cited by 127 · see citing works
A comprehensive description of the severity groups in Cockayne syndrome
Natale, V. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33933 · Cited by 125 · see citing works
Cockayne syndrome in adults: Review with clinical and pathologic study of a new case
Rapin, I., Weidenheim, K., Lindenbaum, Y., Rosenbaum, P., Merchant, S. N., Krishna, S., & Dickson, D. W. (2006) · Journal of Child Neurology · doi:10.1177/08830738060210110101 · Cited by 124 · see citing works
Neuroimaging In Cockayne Syndrome
Koob, M., Laugel, V., Durand, M., Fothergill, H., Dalloz, C., Sauvanaud, F., Dollfus, H., Namer, I. J., & Dietemann, J. (2010) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2135 · Cited by 118 · see citing works
Decline of nucleotide excision repair capacity in aging Caenorhabditis elegans
Meyer, J. N., Boyd, W. A., Azzam, G. A., Haugen, A. C., Freedman, J. H., & Houten, B. V. (2007) · Genome biology · doi:10.1186/gb-2007-8-5-r70 · Cited by 114 · see citing works
Rangaraju, S., Solis, G. M., Thompson, R. C., Gomez-Amaro, R. L., Kurian, L., Encalada, S. E., Niculescu, A. B., Salomon, D. R., & Petrascheck, M. (2015) · eLife · doi:10.7554/elife.08833 · Cited by 111 · see citing works
UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice
van der Horst, G. T. J., Meira, L. B., Gorgels, T. G. M. F., de Wit, J., Velasco-Miguel, S., Richardson, J. A., Kamp, Y., Vreeswijk, M. P. G., Smit, B., Bootsma, D., et al. (2002) · DNA repair · doi:10.1016/s1568-7864(01)00010-6 · Cited by 109 · see citing works
Mao, H., Seo, S. J., Biswal, M. R., Li, H., Conners, M., Nandyala, A. S., Jones, K., Le, Y.-Z., & Lewin, A. S. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14633 · Cited by 107 · see citing works
Mitochondrial 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
Self-citationPascucci, 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
Calcification of the basal ganglia as visualized by computed tomography.
Cohen, C. R., Duchesneau, P. M., & Weinstein, M. A. (1980) · Radiology · doi:10.1148/radiology.134.1.7350641 · Cited by 103 · see citing works
Ocular Manifestations in the Inherited DNA Repair Disorders
Dollfus, H., Porto, F. B. O., Caussade, P., Speeg‐Schatz, C., Sahel, J., Grosshans, E., Flament, J., & Sarasin, A. R. (2003) · Survey of Ophthalmology · doi:10.1016/s0039-6257(02)00400-9 · Cited by 102 · see citing works
Sphingolipid metabolism regulates development and lifespan in Caenorhabditis elegans
Cutler, R. G., Thompson, K. W., Camandola, S., Mack, K. T., & Mattson, M. P. (2014) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2014.11.002 · Cited by 102 · see citing works
Su, B., Ji, Y.-S., Sun, X., Liu, X., & Chen, Z.-Y. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.526129 · Cited by 99 · see citing works
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
Piana, R. L., Uggetti, C., Roncarolo, F., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000002228 · Cited by 96 · see citing works
Cockayne syndrome: Unusual neuropathological findings and review of the literature
Soffer, D., Grotsky, H. W., Rapin, I., & Suzuki, K. (1979) · Annals of Neurology · doi:10.1002/ana.410060407 · Cited by 93 · see citing works
Laposa, R. R., Huang, E. J., & Cleaver, J. E. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0610619104 · Cited by 92 · see citing works
C. elegans Positive Butanone Learning, Short-term, and Long-term Associative Memory Assays
Kauffman, A., Parsons, L. R., Stein, G. M., Wills, A. A., Kaletsky, R. L., & Murphy, C. T. (2011) · Journal of Visualized Experiments · doi:10.3791/2490 · Cited by 92 · see citing works
Kim, H., Kim, H., Lee, K., Kim, J., Kim, H. S., Kim, J., Ha, C., Choi, Y., Lee, S. J., Kim, J., et al. (2011) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2011.01294.x · Cited by 91 · see citing works
Genetic analysis of twenty-two patients with Cockayne syndrome
Stefanini, M., Fawcett, H., Botta, E., Nardò, T., & Lehmann, A. R. (1996) · Human Genetics · doi:10.1007/bf02267059 · Cited by 89 · see citing works
Cho, I., Tsai, P.-F., Lake, R. J., Basheer, A., & Fan, H.-Y. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003407 · Cited by 84 · see citing works
Lindenbaum, Y., Dickson, D. W., Rosenbaum, P. S., Kraemer, K. H., Robbins, J. H., & Rapin, I. (2001) · European Journal of Paediatric Neurology · doi:10.1053/ejpn.2001.0523 · Cited by 83 · see citing works
Brooks, P. J. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.018 · Cited by 82 · see citing works
Pyruvate Dehydrogenase Kinase 4 Promotes Vascular Calcification via SMAD1/5/8 Phosphorylation
Lee, S. J., Jeong, J. Y., Oh, C. J., et al. (2015) · Scientific Reports · doi:10.1038/srep16577 · Cited by 81 · see citing works
Jaarsma, D., van der Pluijm, I., de Waard, M. C., Haasdijk, E. D., Brandt, R. M. C., Vermeij, M., Rijksen, Y., Maas, A., STEEG, H. V., Hoeijmakers, J. H. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002405 · Cited by 79 · see citing works
Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome
Gorgels, T. G. M. F., van der Pluijm, I., Brandt, R. M. C., Garinis, G. A., STEEG, H. V., van den Aardweg, G. J., Jansen, G. H., Ruijter, J. M., Bergen, A. A. B., Norren, D. V., et al. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01037-06 · Cited by 79 · see citing works
Recognizable phenotypes associated with intracranial calcification
Livingston, J. H., Stivaros, S. M., van der Knaap, M. S., & Crow, Y. J. (2012) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2012.04437.x · Cited by 78 · see citing works
Neurodegeneration in hereditary nucleotide repair disorders
Itoh, M., Hayashi, M., Shioda, K., Minagawa, M., Isa, F., Tamagawa, K., Morimatsu, Y., & Oda, M. (1999) · Brain and Development · doi:10.1016/s0387-7604(99)00033-9 · Cited by 75 · see citing works
Brooks, P. J., Cheng, T., & Cooper, L. D. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.01.017 · Cited by 75 · see citing works
Cockayne syndrome group B protein regulates DNA double‐strand break repair and checkpoint activation
Batenburg, N. L., Thompson, E. L., Hendrickson, E. A., & Zhu, X. (2015) · The EMBO Journal · doi:10.15252/embj.201490041 · Cited by 74 · see citing works
Longevity and resistance to stress correlate with DNA repair capacity in Caenorhabditis elegans
Hyun, M., Lee, J., Lee, K., May, A., Bohr, V. A., & Ahn, B. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkm1161 · Cited by 73 · see citing works
Self-citationChen, A. T., Guo, C., Itani, O. A., Budaitis, B. G., Williams, T. W., Hopkins, C. E., McEachin, R. C., Pande, M., Grant, A. R., Yoshina, S., et al. (2015) · Genetics · doi:10.1534/genetics.115.177998 · Cited by 73 · see citing works
A prospective study of patients with CT detected pallidal calcifications.
Fénelon, G., Gray, F., Paillard, F., Thibierge, M., Mahieux, F., & Guillani, A. (1993) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.56.6.622 · Cited by 71 · see citing works
Châtre, L., Biard, D. S. F., Sarasin, A. R., & Ricchetti, M. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1422264112 · Cited by 70 · see citing works
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome
Lowry, R. B., MacLean, R. E. G., McLean, D. M., & Tischler, B. (1971) · The Journal of Pediatrics · doi:10.1016/s0022-3476(71)80114-2 · Cited by 68 · see citing works
Berquist, B. R., Canugovi, C., Sýkora, P., Wilson, D. M., & Bohr, V. A. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks565 · Cited by 65 · see citing works
Self-citationCleaver, J. E., Brennan-Minnella, A. M., Swanson, R. A., Fong, K.-W., Chen, J., Chou, K.-M., Chen, Y.-W., Revet, I., & Bezrookove, V. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1414135111 · Cited by 65 · see citing works
CSB interacts with SNM1A and promotes DNA interstrand crosslink processing
Iyama, T., Lee, S. Y., Berquist, B. R., Gileadi, O., Bohr, V. A., Seidman, M. M., McHugh, P. J., & Wilson, D. M. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1279 · Cited by 61 · see citing works
Self-citationKristensen, U., Epanchintsev, A., Rauschendorf, M., Laugel, V., Stevnsner, T., Bohr, V. A., Coin, F., & Egly, J. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1220071110 · Cited by 61 · see citing works
Self-citationWilson, N. M., Hilmer, S. N., MARCH, L. M., Cameron, I. D., Lord, S. R., Seibel, M. J., & Sambrook, P. N. (2010) · Age and Ageing · doi:10.1093/ageing/afq053 · Cited by 61 · see citing works
Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells
Osenbroch, P. Ø., Auk‐Emblem, P., Halsne, R., Strand, J., Forstrøm, R. J., van der Pluijm, I., & Eide, L. (2009) · The FEBS Journal · doi:10.1111/j.1742-4658.2009.07004.x · Cited by 60 · see citing works
A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging
Scheibye‐Knudsen, M., Scheibye-Alsing, K., Canugovi, C., Croteau, D. L., & Bohr, V. A. (2013) · Aging · doi:10.18632/aging.100546 · Cited by 57 · see citing works
Self-citationOcular Findings in Cockayne Syndrome
Traboulsi, E. I., Becker, I. D., & MAUMENEE, I. H. (1992) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)74486-1 · Cited by 56 · see citing works
Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One
Sugarman, G. I., Landing, B. H., & Reed, W. B. (1977) · Clinical Pediatrics · doi:10.1177/000992287701600304 · Cited by 53 · see citing works
Oxidative Stress and Disturbed Glutamate Transport in Hereditary Nucleotide Repair Disorders
Hayashi, M., Itoh, M., Araki, S., Kumada, S., Shioda, K., Tamagawa, K., Mizutani, T., Morimatsu, Y., Minagawa, M., & Oda, M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.4.350 · Cited by 52 · see citing works
Hayashi, M., Araki, S., Kohyama, J., Shioda, K., & Fukatsu, R. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.04.001 · Cited by 51 · see citing works
Resistance to the most common optic neuropathy is associated with systemic mitochondrial efficiency
Lascaratos, G., Chau, K., Zhu, H., Gkotsi, D., King, R. H. M., Gout, I. T., Kamal, D., Luthert, P. J., Schapira, A. H. V., & Garway‐Heath, D. F. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.05.012 · Cited by 50 · 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 · see citing works
Self-citationMouse models of age-related mitochondrial neurosensory hearing loss
Han, C. J., & Someya, S. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2012.07.004 · Cited by 50 · see citing works
Fujimoto, W. Y., Greene, M. L., & Seegmiller, J. E. (1969) · The Journal of Pediatrics · doi:10.1016/s0022-3476(69)80317-3 · Cited by 50 · see citing works
Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis
Kubota, M., Ohta, S., Ando, A., Koyama, A., Terashima, H., Kashii, H., Hoshino, H., Sugita, K., & Hayashi, M. (2015) · Pediatrics International · doi:10.1111/ped.12635 · Cited by 50 · see citing works
Intracerebral Calcification in Systemic Sclerosis
Héron, E., Hernigou, A., Châtellier, G., et al. (1999) · Stroke · doi:10.1161/01.str.30.10.2183 · Cited by 48 · see citing works
Leech, R. W., Brumback, R. A., Miller, R. H., Otsuka, F., Tarone, R. E., & Robbins, J. H. (1985) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198509000-00006 · Cited by 47 · see citing works
MRI in Cockayne syndrome type I
Boltshauser, E., Yalçınkaya, C., Wichmann, W. W., et al. (1989) · Neuroradiology · doi:10.1007/bf00344359 · Cited by 43 · see citing works
Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
Pasquier, L. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2005.080473 · Cited by 43 · see citing works
Iser, W. B., & Wolkow, C. A. (2007) · PLoS ONE · doi:10.1371/journal.pone.0001240 · Cited by 42 · see citing works
Kamenisch, Y., Fousteri, M. I., Knoch, J., von Thaler, A., Fehrenbacher, B., Kato, H., Becker, T., Dollé, M. E. T., Kuiper, R., Majora, M., et al. (2010) · F1000Research · doi:10.7490/f1000research.515.1 · Cited by 42 · see citing works
Basal Ganglia Calcification in Mitochondrial Disorders
Finsterer, J., & Kopsa, W. (2005) · Metabolic Brain Disease · doi:10.1007/s11011-005-7209-9 · Cited by 40 · see citing works
Cockayne's syndrome: case report
Crome, L., & Kanjilal, G. C. (1971) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.34.2.171 · Cited by 37 · see citing works
Cranial CT and MRI in diseases with DNA repair defects
Demaerel, P., Kendall, B. E., & Kingsley, D. P. E. (1992) · Neuroradiology · doi:10.1007/bf00588156 · Cited by 36 · see citing works
Caputo, M., Frontini, M., Vélez-Cruz, R., Nicolai, S., Prantera, G., & Proietti‐De‐Santis, L. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.01.008 · Cited by 36 · see citing works
Aamann, M. D., Muftuoglu, M., Bohr, V. A., & Stevnsner, T. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.03.009 · Cited by 34 · see citing works
Self-citationUltrastructure and electrodiagnosis of peripheral neuropathy in Cockayne's syndrome
Grunnet, M. L., Zimmerman, A. W., & Lewis, R. A. (1983) · Neurology · doi:10.1212/wnl.33.12.1606 · Cited by 34 · see citing works
Disorders of nucleotide excision repair
(2013) · Handbook of Clinical Neurology · doi:10.1016/b978-0-444-59565-2.00032-0 · Cited by 33 · see citing works
A C. elegans homolog of the Cockayne syndrome complementation group A gene
Babu, V., Hofmann, K., & Schumacher, B. (2014) · DNA Repair · doi:10.1016/j.dnarep.2014.09.011 · Cited by 31 · see citing works
Gandolfi, A., Horoupian, D. S., Rapin, I., DeTeresa, R. M., & Hyams, V. J. (1984) · Annals of Neurology · doi:10.1002/ana.410150205 · Cited by 29 · see citing works
Ocular Manifestations of Cockayne's Syndrome
Coles, W. H. (1969) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(69)91006-x · Cited by 26 · 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
Nagtegaal, A. P., Rainey, R. N., van der Pluijm, I., Brandt, R. M. C., van der Horst, G. T. J., Borst, J. G. G., & Segil, N. (2015) · The Journal of Neuroscience · doi:10.1523/jneurosci.5063-14.2015 · Cited by 25 · see citing works
The Cockayne Syndrome: An Evaluation of Hypertension and Studies of Renal Pathology
Higginbottom, M. C., Griswold, W. R., Jones, K. L., Vasquez, M., Mendoza, S. A., & Wilson, C. B. (1979) · PEDIATRICS · doi:10.1542/peds.64.6.929 · Cited by 25 · see citing works
The neuropathy of Cockayne syndrome
Vos, A., Gabre�ls-Festen, A. A. W. M., Joosten, E. M. G., Gabre�ls, F. J. M., Renier, W. O., & Mullaart, R. A. (1983) · Acta Neuropathologica · doi:10.1007/bf00697396 · Cited by 25 · see citing works
Lee, M., Ahn, B., Choi, I. S., & Koo, H. (2002) · FEBS Letters · doi:10.1016/s0014-5793(02)02880-6 · Cited by 25 · see citing works
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation
Wang, Y., Jones-Tabah, J., Chakravarty, P., Stewart, A., Muotri, A. R., Laposa, R. R., & Svejstrup, J. Q. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.02.051 · Cited by 25 · see citing works
Renal lesions in Cockayne syndrome
Hirooka, M., Hirota, M., & Kamada, M. (1988) · Pediatric Nephrology · doi:10.1007/bf00862599 · Cited by 24 · see citing works
Brace, L., Vose, S. C., Vargas, D., Zhao, S.-Y., Wang, X.-P., & Mitchell, J. R. (2013) · Aging Cell · doi:10.1111/acel.12142 · Cited by 23 · see citing works
Renal lesions in Cockayne's syndrome.
Satō, H., Saito, T., Kurosawa, K., et al. (1988) · PubMed · Cited by 22 · see citing works
Celiac disease: effects on bone mineralization
da Silva, G. A. P. (2003) · Jornal de Pediatria · doi:10.2223/jped.1040 · Cited by 22 · see citing works
Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa
Neilan, E. G., Delgado, M. R., Donovan, M. A., Kim, S. Y., Jou, R. L., Wu, B.-L., & Kang, P. B. (2008) · Archives of Neurology · doi:10.1001/archneur.65.8.1117 · Cited by 22 · see citing works
Brain vascular changes in Cockayne syndrome
Hayashi, M., Miwa‐Saito, N., Tanuma, N., & Kubota, M. (2011) · Neuropathology · doi:10.1111/j.1440-1789.2011.01241.x · Cited by 22 · see citing works
Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome
Reiss, U. M., Hofweber, K., Herterich, R., et al. (1996) · Pediatric Nephrology · doi:10.1007/s004670050170 · Cited by 21 · see citing works
Cockayne syndrome: Report of two siblings and review of literature in Japan
Jin, K., Handa, T., Ishihara, T., et al. (1979) · Brain and Development · doi:10.1016/s0387-7604(79)80046-7 · Cited by 18 · see citing works
Ophthalmic management of Cockayne's syndrome
McElvanney, A. M., Wooldridge, W. J., Khan, A., et al. (1996) · Eye · doi:10.1038/eye.1996.9 · Cited by 17 · see citing works
Chronological changes of auditory brainstem responses in Cockayne's syndrome
Iwasaki, S., & Kaga, K. (1994) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/0165-5876(94)90062-0 · Cited by 14 · see citing works
Scaioli, V., D’Arrigo, S., & Pantaleoni, C. (2003) · Brain and Development · doi:10.1016/s0387-7604(03)00130-x · Cited by 14 · see citing works
Berquist, B. R., & Wilson, D. M. (2009) · Journal of Molecular Biology · doi:10.1016/j.jmb.2009.06.078 · Cited by 14 · see citing works
Cockayne's Syndrome: case report of a successful pregnancy
Lahiri, S., & Davies, N. P. (2003) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2003.01190.x · Cited by 12 · see citing works
Cockayne syndrome with recurrent acute tubulointerstitial nephritis
Funaki, S., Takahashi, S., Murakami, H., et al. (2006) · Pathology International · doi:10.1111/j.1440-1827.2006.02029.x · Cited by 12 · see citing works
Rare Case of Cockayne Syndrome with Xeroderma Pigmentosum
Bartenjev, M. R. B. I. (2000) · Acta Dermato Venereologica · doi:10.1080/000155500750043032 · Cited by 11 · see citing works
An Adult Case of Cockayne Syndrome without Sclerotic Angiopathy.
INDUE, T., Sano, N., Yuji, I. T. O., Matsuzaki, Y., Okauchi, Y., KONDO, H., Horiuchi, N., Nakao, K., & Iwata, M. (1997) · Internal Medicine · doi:10.2169/internalmedicine.36.565 · Cited by 11 · see citing works
Ramantani, G., Niggemann, P., Bast, T., et al. (2010) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2147 · Cited by 10 · see citing works
Yuen, M. K., Rodrigo, M. R. C., Min, J. C. L., et al. (2001) · Journal of Oral and Maxillofacial Surgery · doi:10.1053/joms.2001.28291 · Cited by 9 · see citing works
Aortic dilatation in Cockayne syndrome
Ovaert, C., Cano, A., & Chabrol, B. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31986 · Cited by 9 · see citing works
Peripheral neuropathy in Cockayne syndrome
Schenone, A. E., Rolando, S., Ferrari, M., et al. (1986) · Neurological Sciences · doi:10.1007/bf02283024 · Cited by 9 · see citing works
Mizuguchi, M., & Itoh, M. (2005) · Neuropathology · doi:10.1111/j.1440-1789.2004.00589.x · Cited by 7 · see citing works
Congenital infection-like syndrome with intracranial calcification
Mizuno, Y., Takahashi, K., Igarashi, T., et al. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.09.001 · Cited by 6 · see citing works
Calcification of the basal ganglia on computed tomography.
Selekler, K. (1982) · PubMed · Cited by 6 · see citing works
MRI in the diagnosis of Cockayne's syndrome. One case.
Demaerel, P., Wilms, G., Verdru, P., et al. (1990) · PubMed · Cited by 6 · see citing works
[Peripheral neuropathy as a presenting form of Cockayne syndrome].
Plana, J. C., de Veciana, A. R., Poo Argüelles, P., et al. (1992) · PubMed · Cited by 5 · see citing works
[Clinical examination of renal function in Cockayne syndrome].
Motojima, T., Sugita, K., Omata, T., et al. (2014) · PubMed · Cited by 5 · see citing works
Susceptibility-Weighted Imaging for Calcification in Cockayne Syndrome
Wagner, M. W., Poretti, A., Wang, T., et al. (2014) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2014.04.030 · Cited by 3 · see citing works
Cockayne syndrome with tetralogy of Fallot: a case report.
Cs, C., Kl, L., Yf, H., et al. (1997) · PubMed · Cited by 3 · see citing works
Flagged first, then by citations
Research works printed but not linked: 3
- Cheng A Yang Y Zhou Y Maharana C Lu D Peng W Liu Y Wan R Marosi K Misiak M Bohr VA Mattson MP 2016b Mitochondrial SIRT3 Mediates Adaptive Responses of Neurons to Exercise and Metabolic and Excitatory Challenges Cell Metab 23 128 142 10.1016/j.cmet.2015.10.013 26698917 PMC5141613 · DOI · Paper page
- Hyun M Lee J Lee K May A Bohr VA Ahn B 2008b Longevity and resistance to stress correlate with DNA repair capacity in Caenorhabditis elegans Nucleic Acids Res 36 1380 1389 10.1093/nar/gkm1161 18203746 PMC2275101 · DOI
- Traboulsi EI De Becker I Maumenee IH 1992b Ocular findings in Cockayne syndrome Am J Ophthalmol 114 579 583 1443019
Cited by
Sorted by citations
Ageing as a risk factor for neurodegenerative disease
Hou, Y., Dan, X., Babbar, M., Wei, Y., Hasselbalch, S. G., Croteau, D. L., & Bohr, V. A. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0244-7 · Cited by 3,310 · see citing works
Self-citationCellular senescence in brain aging and neurodegenerative diseases: evidence and perspectives
Baker, D. J., & Petersen, R. C. (2018) · Journal of Clinical Investigation · doi:10.1172/jci95145 · Cited by 514 · see citing works
NAD(+) in aging: molecular mechanisms and translational implications
Fang, E. F., Lautrup, S., Hou, Y., Demarest, T. G., Croteau, D. L., Mattson, M. P., & Bohr, V. A. (2017) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2017.08.001 · Cited by 501 · 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
From geroscience to precision geromedicine: Understanding and managing aging
Kroemer, G., Maier, A. B., Cuervo, A. M., Gladyshev, V. N., Ferrucci, L., Gorbunova, V., Kennedy, B. K., Rando, T. A., Seluanov, A., Sierra, F., et al. (2025) · Cell · doi:10.1016/j.cell.2025.03.011 · Cited by 395 · see citing works
SIRT6 is responsible for more efficient DNA double-strand break repair in long-lived species
Tian, X., Firsanov, D., Zhang, Z., Cheng, Y., Luo, L., Tombline, G., Tan, R., Simon, M., Henderson, S., Steffan, J., et al. (2019) · Cell · doi:10.1016/j.cell.2019.03.043 · Cited by 353 · 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
Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies
Kciuk, M., Marciniak, B., Mojzych, M., & Kontek, R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197264 · Cited by 168 · see citing works
Toward understanding genomic instability, mitochondrial dysfunction and aging
Fakouri, N. B., Hou, Y., Demarest, T. G., Christiansen, L. S., Okur, M. N., Mohanty, J. G., Croteau, D. L., & Bohr, V. A. (2019) · The FEBS Journal · doi:10.1111/febs.14663 · Cited by 77 · see citing works
Self-citationTranscription Blockage by DNA Damage in Nucleotide Excision Repair-Related Neurological Dysfunctions
Kajitani, G. S., Nascimento, L. L. D. S., Neves, M. R. D. C., Leandro, G. D. S., Garcia, C. C. M., & Menck, C. F. M. (2021) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2020.10.009 · Cited by 22 · see citing works
- Authors
- Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A.
- Affiliations
- National Institute on Aging (US)
- National Institutes of Health (US)
- Corresponding author
- Bohr, Vilhelm A.
- Venue
- Ageing Research Reviews
- Publisher
- Elsevier BV
- Published
- 2017-01
- Volume
- 33
- Pages
- 3-17
- ISSN
- 1568-1637 (ISSN-L)
- PMC
- PMC5195851
- OpenAlex
- W2500008420
- Cited by
- 262
- References
- 151
- Citations by year
- 2026: 23 · 2025: 25 · 2024: 23 · 2023: 22 · 2022: 27 · 2021: 40 · 2020: 29 · 2019: 32 · 2018: 24 · 2017: 14 · 2016: 2
- FWCI
- 2.17
- Type
- journal article
- Language
- en
- Open access
- Licence
- Locations
- Ageing Research Reviews (publishedVersion)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- PubMed Central (acceptedVersion)
- Funders
- Intramural Research Program of the NIH, National Institute on Aging
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- Cockayne syndrome, transcription-coupled repair, DNA base excision repair, mitochondrial dysfunction, accelerated aging, Hutchinson-Gilford progeria syndrome, xeroderma pigmentosum, dwarfism, microcephaly, pigmentary retinopathy, sensorineural hearing loss, complementation groups, model systems, aging mechanisms
- MeSH terms
- Aging, Animals, Cockayne Syndrome, Cognition, DNA Repair, Humans, Mitochondria, Models, Biological, Transcriptional Activation, Aging, Premature, Symptom Assessment
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
