Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
Abstract
Global growth and development failure, premature, accelerated, pathologic aging, and neurodegeneration characterize Cockayne syndrome (CS) and the cerebro-oculo-facial-skeletal and xeroderma pigmentosum/CS syndromes which overlap CS partially in their genetic, somatic, and neuropathologic features. Mutations of CSA or CSB genes jeopardize transcription-coupled repair of damaged nuclear and mitochondrial DNA and resumption of replication and transcription. Resultant defective proteins or gene silencing eventuate in profound dwarfism and micrencephaly, cachexia, vasculopathy, and neurodegeneration. Cellular effects are highly selective. Purkinje cells may die by apoptosis and have grossly dystrophic dendrites. Neuronal death and axonal spheroids indexing neuronal pathology predominate in, but are not limited to, the cerebellum. Progressive loss of retinal, cochlear, and vestibular sensory receptors foster degeneration of ganglion cells and transneuronal brain degeneration. Some proliferating astrocytes are multinucleated and bizarre. Primary damage of oligodendrocytes and Schwann cells may - or may not - explain severe patchy myelin loss ("tigroid leukodystrophy") and segmental demyelinating peripheral neuropathy. Age-related changes are minor in the brain, although precocious severe athero- and arteriolosclerosis are responsible for occasional strokes. Vasculopathology may contribute to myelin loss and to dystrophic mineralization of neurons and vessels, especially in basal ganglia and cerebellum. Understanding the genetics, biochemical, and cellular pathophysiology of these disorders remains fragmentary.
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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 [158]
Cites
Blessed, G., Tomlinson, B. E., & Roth, M. (1968) · British Journal of Psychiatry · doi:10.1192/bjp.114.512.797 · Cited by 4,117 · see citing works
Molecular Regulation of Adipogenesis
Rosen, E. D., & Spiegelman, B. M. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.145 · Cited by 1,287 · see citing works
Age, Neuropathology, and Dementia
Savva, G. M., Wharton, S. B., Ince, P. G., Forster, G., Matthews, F. E., & Brayne, C. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0806142 · Cited by 900 · 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
Phenotype and Course of Hutchinson–Gilford Progeria Syndrome
Merideth, M. A., Gordon, L. B., Clauss, S. B., Sachdev, V., Smith, A. C. M., Perry, M. B., Brewer, C. C., Zalewski, C. K., Kim, H. J., Solomon, B. I., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706898 · Cited by 740 · see citing works
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis
Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., et al. (2006) · Nature · doi:10.1038/nature05456 · Cited by 669 · see citing works
Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease
Price, J. L., McKeel, D. W., Buckles, V. D., Roe, C. M., Xiong, C., Grundman, M., Hansen, L. A., Petersen, R. C., Parisi, J. E., Dickson, D. W., et al. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2009.04.002 · Cited by 661 · see citing works
Self-citationFriede, R. L. (1989) · Springer eBooks · doi:10.1007/978-3-642-73697-1 · Cited by 607 · see citing works
Newborn screening: toward a uniform screening panel and system—executive summary
Watson, M. S., Mann, M. Y., Lloyd-Puryear, M. A., Rinaldo, P., Howell, R. R., & American College of Medical Genetics Newborn Screening Expert Group (2006) · Pediatrics · doi:10.1542/peds.2005-2633i · Cited by 494 · see citing works
Fousteri, M., & Mullenders, L. H. (2008) · Cell Research · doi:10.1038/cr.2008.6 · Cited by 487 · 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
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
Neurodegeneration with brain iron accumulation
Hayflick, S. J., Kurian, M. A., & Hogarth, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00019-1 · Cited by 323 · see citing works
Faghri, S., Tamura, D., Kraemer, K. H., & DiGiovanna, J. J. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058743 · Cited by 264 · see citing works
Ahmed, Z., Shaw, G., Sharma, V. P., Yang, C., McGowan, E., & Dickson, D. W. (2007) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.6a7156.2007 · Cited by 258 · see citing works
Self-citationCockayne 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
Self-citationvan der Pluijm, I., Garinis, G. A., Brandt, R. M. C., Gorgels, T. G. M. F., Wijnhoven, S., Diderich, K. E. M., de Wit, J., Mitchell, J. R., van Oostrom, C., Beems, R. B., et al. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0050002 · Cited by 237 · see citing works
Jaspers, N. G. J., Raams, A., Silengo, M., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia‐Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/512486 · Cited by 213 · see citing works
Martin, L. J. (2008) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e31816ff780 · Cited by 207 · see citing works
Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J., & Tanaka, K. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.03.013 · Cited by 194 · see citing works
Belman, A. L., Lantos, G., Horoupian, D. S., Novick, B. E., Ultmann, M. H., Dickson, D. W., & Rubinstein, A. (1986) · Neurology · doi:10.1212/wnl.36.9.1192 · Cited by 183 · see citing works
Self-citationWhat Can Progeroid Syndromes Tell Us About Human Aging?
Kipling, D., Davis, T., Ostler, E. L., & Faragher, R. (2004) · Science · doi:10.1126/science.1102587 · Cited by 182 · see citing works
Horibata, K., Iwamoto, Y., Kuraoka, I., Jaspers, N. G. J., Kurimasa, A., Oshimura, M., Ichihashi, M., & Tanaka, K. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404587101 · Cited by 178 · 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
Self-citationXeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
Greenhaw, G. A., Hebert, A. A., Duke-Woodside, M. E., Butler, I. J., Hecht, J. T., Cleaver, J. E., Thomas, G. H., & Horton, W. A. (1992) · Europe PMC (PubMed Central) · Cited by 162 · see citing works
Pathological markers associated with normal aging and dementia in the elderly
Crystal, H. A., Dickson, D. W., Sliwinski, M. J., Lipton, R. B., Grober, E., Marks‐Nelson, H., & Antis, P. (1993) · Annals of Neurology · doi:10.1002/ana.410340410 · Cited by 161 · see citing works
Self-citationThe role of CSA in the response to oxidative DNA damage in human cells
D'Errico, M., Parlanti, E., Teson, M., Degan, P., Lemma, T., Calcagnile, A., Iavarone, I., Jaruga, P., Ropolo, M., Pedrini, A. M., et al. (2007) · Oncogene · doi:10.1038/sj.onc.1210232 · Cited by 137 · see citing works
Graham, J. M., Anyane‐Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D. B., Edersheim, T. G., & Jaspers, N. G. J. (2001) · The American Journal of Human Genetics · doi:10.1086/321295 · Cited by 133 · 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
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
Self-citationOh, K., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A. R., Friedmann, P. S., Emmert, S., Gratchev, A. N., Lachlan, K. L., et al. (2006) · Human Mutation · doi:10.1002/humu.20392 · Cited by 118 · 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
Robbins, J. H., Brumback, R. A., MENDIONES, M., Barrett, S. F., Carl, J. R., Cho, S., DENCKLA, M. B., Ganges, M. B., Gerber, L. H., Guthrie, R. A., et al. (1991) · Brain · doi:10.1093/brain/114.3.1335 · Cited by 102 · 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
Lehmann, A. R., Thompson, A., Harcourt, S. A., Stefanini, M., & Norris, P. G. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.8.679 · Cited by 100 · 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
Self-citationLaposa, 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
Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH
Compe, E., Malerba, M., Soler, L., Marescaux, J., Borrelli, E., & Egly, J. (2007) · Nature Neuroscience · doi:10.1038/nn1990 · Cited by 91 · see citing works
Oxidative stress in developmental brain disorders
Hayashi, M. (2009) · Neuropathology · doi:10.1111/j.1440-1789.2008.00888.x · Cited by 91 · see citing works
REVIEW ARTICLE Neurodegeneration with brain iron accumulation
Gregory, A., & Hayflick, S. J. (2006) · Folia Neuropathologica · Cited by 88 · see citing works
Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J., Martin‐Coignard, D., Drouin‐Garraud, V., Valayannopoulos, V., Sarasin, A. R., & Dollfus, H. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.057141 · Cited by 83 · 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
Self-citationBenarroch, E. E. (2009) · Neurology · doi:10.1212/wnl.0b013e3181a6b123 · Cited by 81 · 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
Brumback, R. A. (1978) · Archives of Neurology · doi:10.1001/archneur.1978.00500300011002 · Cited by 78 · see citing works
Rowlatt, U. (1969) · Acta Neuropathologica · doi:10.1007/bf00687702 · Cited by 77 · 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
Peripheral Neuropathy in Cockayne's Syndrome
Moosa, A., & Dubowitz, V. (1970) · Archives of Disease in Childhood · doi:10.1136/adc.45.243.674 · Cited by 74 · see citing works
Nucleotide excision repair and neurological diseases
Nouspikel, T. P. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.03.015 · Cited by 73 · see citing works
Boyle, J., Ueda, T., Oh, K., Imoto, K., Tamura, D., Jagdeo, J. R., Khan, S. G., Nadem, C., DiGiovanna, J. J., & Kraemer, K. H. (2008) · Human Mutation · doi:10.1002/humu.20768 · Cited by 71 · see citing works
The Neuropathology of Cockayne's Syndrome*†
Moossy, J. J. (1967) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-196710000-00010 · Cited by 63 · see citing works
Aicardi–Goutières syndrome (AGS)
Stephenson, J. B. P. (2008) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.11.010 · Cited by 62 · see citing works
Moriwaki, S., Stafanim, M., Lehmann, A. R., Hoeijmakers, J. H. J., Robbins, J. H., Rapin, I., Botta, E., Tanganelli, B., Vermeulen, W., Broughton, B. C., et al. (1996) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12584287 · Cited by 61 · see citing works
Self-citationTissue-specific accelerated aging in nucleotide excision repair deficiency
Niedernhofer, L. J. (2008) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2008.04.010 · Cited by 60 · see citing works
Hoon, A. H., Reinhardt, E. M., Kelley, R. I., Breiter, S. N., Morton, D. H., Naidu, S., & Johnston, M. V. (1997) · The Journal of Pediatrics · doi:10.1016/s0022-3476(97)70160-4 · Cited by 56 · see citing works
Gupta, R. K., Bhatia, V., Poptani, H., & Gujral, R. B. (1995) · The Journal of Pediatrics · doi:10.1016/s0022-3476(95)70454-x · Cited by 56 · see citing works
Scott, R. J., Itin, P. H., Kleijer, W. J., Kolb, K., Arlett, C. F., & Muller, H. (1993) · Journal of the American Academy of Dermatology · doi:10.1016/0190-9622(93)70263-s · Cited by 54 · 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
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
Perry, J. J. P., Fan, L., & Tainer, J. A. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.10.045 · Cited by 50 · see citing works
Nucleotide excision repair deficient mouse models and neurological disease
Niedernhofer, L. J. (2008) · DNA repair · doi:10.1016/j.dnarep.2007.12.006 · 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
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
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
Renal Lesions in Cockayne's Syndrome
Ohno, T., & Hirooka, M. (1966) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.89.151 · Cited by 41 · see citing works
Hutchinson–Gilford Progeria Syndrome, Aging, and the Nuclear Lamina
Korf, B. R. (2008) · New England Journal of Medicine · doi:10.1056/nejmp0800071 · Cited by 40 · see citing works
Cerebellar neurodegeneration in human hereditary DNA repair disorders
Kohji, T., Hayashi, M., Shioda, K., Minagawa, M., Morimatsu, Y., Tamagawa, K., & Oda, M. (1998) · Neuroscience Letters · doi:10.1016/s0304-3940(98)00109-8 · Cited by 39 · see citing works
Cockayne syndrome: Magnetic resonance images of the brain in a severe form with early onset
Nishio, H., Kodama, S., Matsuo, T., Ichihashi, M., Ito, H., & Fujiwara, Y. (1987) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01800059 · Cited by 39 · see citing works
Histopathology of the Eye in Cockayne's Syndrome
Levin, P. S., Green, W. R., Victor, D. I., & MacLean, A. L. (1983) · Archives of Ophthalmology · doi:10.1001/archopht.1983.01040020095016 · Cited by 38 · 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
Neuropathological Findings in Eight Children with Cerebro-oculo-facio-skeletal (COFS) Syndrome
Bigio, M. R. D., Greenberg, C. R., RORKE, L. B., Schnur, R. E., McDonald‐McGinn, D. M., & Zackai, E. H. (1997) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199710000-00009 · Cited by 36 · see citing works
Cockayne syndrome in two adult siblings
Miyauchi, H., Horio, T., Akaeda, T., Asada, Y., Chang, H. R., Ishizaki, K., & Ikenaga, M. (1994) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(94)70034-6 · Cited by 36 · see citing works
Peripheral and Central Myelinopathy in Cockayne's Syndrome. Report of 3 Siblings
Smits, M. G., Gabreëls, F. J. M., Renier, W. O., Joosten, E. M. G., Gabreëls‐Festen, A. A. W. M., Laak, H. T., Pinckers, A. J. L. G., Hombergen, G. C. H. J., Notermans, S. L. H., & Thijssen, H. O. M. (1982) · Neuropediatrics · doi:10.1055/s-2008-1059617 · Cited by 35 · see citing works
Paddison, R. M., Moossy, J. J., Derbes, V. J., & Kloepfer, W. (1963) · International Journal of Dermatology · doi:10.1111/ijd.1963.2.4.195 · Cited by 33 · 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
Self-citationPrenatal diagnosis of the Cockayne syndrome: survey of 15 years experience
Kleijer, W. J., van der Sterre, M. L. T., Garritsen, V. H., Raams, A., & Jaspers, N. G. J. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1541 · Cited by 27 · 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
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
Cleaver, J. E., Hefner, E., Laposa, R. R., Karentz, D., & Marti, T. M. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.08.074 · Cited by 23 · 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
Deep brain stimulation to treat hyperkinetic symptoms of cockayne syndrome
Hebb, M. O., Gaudet, P., & Mendez, I. M. (2005) · Movement Disorders · doi:10.1002/mds.20665 · Cited by 22 · see citing works
Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles.
Takada, K., & Becker, L. E. (1986) · PubMed · Cited by 21 · see citing works
Distinctive skeletal dysplasia in Cockayne syndrome
Silengo, M., Franceschini, P., Bianco, R., BIAGIOLI, M., Pastorin, L., Vista, N., Baldassar, A., & BENSO, L. (1986) · Pediatric Radiology · doi:10.1007/bf02456305 · Cited by 21 · see citing works
Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome
Sakai, T., Kikuchi, F., Takashima, S., Matsuda, H., & Watanabe, N. (1997) · Brain and Development · doi:10.1016/s0387-7604(96)00057-5 · Cited by 21 · see citing works
Demyelinating peripheral neuropathy in cockayne syndrome: a histopathologic and morphometric study
Sasaki, K., Tachi, N., Shinoda, M., Satoh, N., Minami, R., & Ohnishi, A. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80098-2 · Cited by 20 · see citing works
Neurodegeneration with Brain Iron Accumulation
Schneider, S. A. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-410529-4.00042-5 · Cited by 19 · see citing works
A neuropathological study of early onset cockayne syndrome with chromosomal anomaly 47XXX
Hayashi, M., Hayakawa, K., Suzuki, F., Sugita, K., Satoh, J., & Morimatsu, Y. (1992) · Brain and Development · doi:10.1016/s0387-7604(12)80282-8 · Cited by 17 · see citing works
Nishiwaki, T., Kobayashi, N., Iwamoto, T., Yamamoto, A., Sugiura, S., Liu, Y., Sarasin, A. R., Okahashi, Y., Hirano, M., Ueno, S., et al. (2008) · DNA repair · doi:10.1016/j.dnarep.2008.08.009 · Cited by 15 · see citing works
Hori, A., Tamagawa, K., Eber, S., Westmeier, M., & Hansmann, I. (1987) · Acta Neuropathologica · doi:10.1007/bf00687219 · Cited by 15 · see citing works
Necropsy of original case of Lowry's syndrome.
Dolman, C. L., & Wright, V. J. (1978) · Journal of Medical Genetics · doi:10.1136/jmg.15.3.227 · Cited by 15 · 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
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency
Park, S. K., Chang, S. H., Cho, S. B., Baek, H. S., & Lee, D. (1994) · Journal of Korean Medical Science · doi:10.3346/jkms.1994.9.1.74 · 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
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
Progeroid syndrome as a model for impaired bone formation in senile osteoporosis
Hishiya, A., & Watanabe, K. (2004) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-004-0517-z · Cited by 10 · 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
[Cockayne's syndrome presenting cerebral ischemic attack: case report].
Shirasaki, N., Hayashi, M., Handa, Y., Kabuto, M., Tsuji, T., Kawano, H., & Kobayashi, H. (1986) · PubMed · Cited by 9 · see citing works
Smits, M., Gabreëls, F. J. M., Froeling, P., ABREU, R. A. D., Thijssen, H. O. M., & Renier, W. O. (1983) · Clinical Neurology and Neurosurgery · doi:10.1016/0303-8467(83)90044-6 · Cited by 9 · see citing works
Cerebro-Oculo-Facio-Skeletal Syndrome as a Human Example for Accelerated Cochlear Nerve Degeneration
Fish, J., Scholtz, A. W., Hussl, B., Kreczy, A., & Schrott‐Fischer, A. (2001) · Otology & Neurotology · doi:10.1097/00129492-200103000-00009 · Cited by 7 · see citing works
Mizuguchi, M., & Itoh, M. (2005) · Neuropathology · doi:10.1111/j.1440-1789.2004.00589.x · Cited by 7 · see citing works
82 RECURRENT CENTRAL NERVOUS SYSTEM DEMYELINATION AND REMYELINATION IN THE MOUSE
Johnson, E. S., & Ludwin, S. K. (1980) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198005000-00090 · Cited by 5 · see citing works
83 ENLARGED OLIGODENDROGLIAL NUCLEI IN COCKAYNEʼS SYNDROME
Johnson, P. C., Nielsen, S. L., & Richardson, E. P. (1980) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198005000-00091 · Cited by 3 · see citing works
Cockayne-Syndrom mit betonter zerebraler Symptomatik - Verlaufsbeobachtung bei zwei Schwestern -
Menges, E.-M., Debus, O. M., Sträter, R., Schuierer, G. R., & Kurlemann, G. (2001) · Klinische Pädiatrie · doi:10.1055/s-2001-15864 · Cited by 3 · see citing works
Vestibular Findings and Brainstem Pathology in Two Siblings with Cockayne’s Syndrome
Iwasaki, S., Kaga, K., Yagi, M., & Kuroda, M. (2010) · ORL · doi:10.1159/000276867 · Cited by 2 · see citing works
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Hallmarks of Brain Aging: Adaptive and Pathological Modification by Metabolic States
Mattson, M. P., & Arumugam, T. V. (2018) · Cell Metabolism · doi:10.1016/j.cmet.2018.05.011 · Cited by 1,242 · see citing works
DNA Damage, DNA Repair, Aging, and NeurodegenerationPreprint
Maynard, S., Fang, E. F., Scheibye‐Knudsen, M., Croteau, D. L., & Bohr, V. A. (2015) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a025130 · Cited by 439 · 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
DNA repair deficiency in neurodegeneration
Jeppesen, D. K., Bohr, V. A., & Stevnsner, T. (2011) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2011.04.013 · Cited by 349 · see citing works
Cockayne syndrome: Clinical features, model systems and pathways
Karikkineth, A. C., Scheibye-Knudsen, M., Fivenson, E., Croteau, D. L., & Bohr, V. A. (2017) · Ageing Research Reviews · doi:10.1016/j.arr.2016.08.002 · Cited by 262 · see citing works
Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome
Laugel, V., Dalloz, C., Durand, M., Sauvanaud, F., Kristensen, U., Vincent, M., Pasquier, L., Odent, S., Cormier‐Daire, V., Gener, B., et al. (2009) · Human Mutation · doi:10.1002/humu.21154 · Cited by 238 · 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
Astrocyte and Oligodendrocyte Cross-Talk in the Central Nervous System
Nutma, E., van Gent, D., Amor, S., & Peferoen, L. A. N. (2020) · Cells · doi:10.3390/cells9030600 · Cited by 184 · 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
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
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
Emerging roles of the neuronal nucleolus
Hetman, M., & Pietrzak, M. (2012) · Trends in Neurosciences · doi:10.1016/j.tins.2012.01.002 · Cited by 127 · 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
The aging brain: impact of heavy metal neurotoxicity
Ijomone, O. M., Ifenatuoha, C. W., Aluko, O. M., Ijomone, O. K., & Aschner, M. (2020) · Critical Reviews in Toxicology · doi:10.1080/10408444.2020.1838441 · Cited by 116 · see citing works
Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease
Wang, Y., Chakravarty, P., Ranes, M., Kelly, G. P., Brooks, P. J., Neilan, E. G., Stewart, A., Schiavo, G., & Svejstrup, J. Q. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1412569111 · Cited by 109 · see citing works
Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies
Hetman, M., & Słomnicki, Ł. P. (2018) · Journal of Neurochemistry · doi:10.1111/jnc.14576 · Cited by 110 · see citing works
Astroglia in Alzheimer’s Disease
Verkhratsky, A., Parpura, V., Rodriguez, J. J., & Zorec, R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9913-8_11 · Cited by 94 · see citing works
Tummala, H., Kirwan, M., Walne, A. J., Hossain, U., Jackson, N. M., Pondarré, C., Plagnol, V., Vulliamy, T., & Dokal, I. S. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.01.007 · Cited by 92 · see citing works
Brooks, P. J. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.018 · Cited by 82 · see citing works
Calmels, N., Botta, E., Jia, N., Fawcett, H., Nardò, T., Nakazawa, Y., Lanzafame, M., Moriwaki, S., Sugita, K., Kubota, M., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2017-104877 · Cited by 83 · see citing works
Review: Somatic mutations in neurodegeneration
Leija‐Salazar, M., Piette, C. E., & Proukakis, C. (2018) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12465 · Cited by 84 · see citing works
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome
Andrade, L. N. D. S., Nathanson, J. L., Yeo, G. W.-M., Menck, C. F. M., & Muotri, A. R. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds211 · Cited by 81 · see citing works
Fei, J., & Chen, J. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.398131 · Cited by 70 · see citing works
Nucleotide Excision Repair: From Molecular Defects to Neurological Abnormalities
Krasikova, Y. S., Rechkunova, N. I., & Lavrik, O. I. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22126220 · Cited by 63 · see citing works
Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency
Barnhoorn, S., Uittenboogaard, L. M., Jaarsma, D., Vermeij, W. P., Tresini, M., Weymaere, M., Menoni, H., Brandt, R. M. C., de Waard, M. C., Botter, S. M., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004686 · Cited by 64 · see citing works
Li, Y., & de Magalhães, J. P. (2011) · AGE · doi:10.1007/s11357-011-9361-y · Cited by 61 · see citing works
Progeria: a rare genetic premature ageing disorder.
Sinha, J. K., Ghosh, S., & Raghunath, M. (2014) · PubMed Central · Cited by 60 · see citing works
CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination
Latini, P., Frontini, M., Caputo, M., Gregáň, J., Čipák, L., Filippi, S., Kumar, V., Vélez-Cruz, R., Stefanini, M., & Proietti‐De‐Santis, L. (2011) · Cell Cycle · doi:10.4161/cc.10.21.17905 · Cited by 60 · see citing works
Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease
Vessoni, A. T., Guerra, C. C. C., Kajitani, G. S., Nascimento, L. L. S., & Garcia, C. C. M. (2020) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2019-0085 · Cited by 53 · see citing works
Totonchy, M. B., Tamura, D., Pantell, M. S., Zalewski, C., Bradford, P. T., Merchant, S. N., Nadol, J., Khan, S. G., Schiffmann, R., Pierson, T. M., et al. (2013) · Brain · doi:10.1093/brain/aws317 · Cited by 51 · see citing works
Somatic mutations in neurodegeneration: An update
Proukakis, C. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105021 · Cited by 53 · see citing works
Gal, M., Magen, D., Zahran, Y., Ravid, S., Eran, A., Khayat, M., Gafni, C., Levanon, E. Y., & Mandel, H. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.02.007 · Cited by 51 · see citing works
Bhanu, M. U., Mandraju, R. K., Bhaskar, C., & Kondapi, A. K. (2010) · Toxicology in Vitro · doi:10.1016/j.tiv.2010.08.003 · Cited by 50 · see citing works
Non-neoplastic diseases of the testis
Nistal, M., & Paniagua, R. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-01970-5.50014-2 · Cited by 50 · see citing works
The cockayne syndrome B protein is essential for neuronal differentiation and neuritogenesis
Ciaffardini, F., Nicolai, S., Caputo, M., Canu, G., Paccosi, E., Costantino, M., Frontini, M., Balajee, A. S., & Proietti‐De‐Santis, L. (2014) · Cell Death and Disease · doi:10.1038/cddis.2014.228 · Cited by 48 · see citing works
Vessoni, A. T., Herai, R. H., Karpiak, J. V., Leal, A. M. D. S., Trujillo, C. A., Quinet, A., Agnez‐Lima, L. F., Menck, C. F. M., & Muotri, A. R. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw008 · Cited by 47 · see citing works
A C. elegans model for neurodegeneration in Cockayne syndrome
Lopes, A. F. C., Bożek, K., Herholz, M., Trifunović, A., Rieckher, M., & Schumacher, B. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa795 · Cited by 43 · see citing works
The Emerging Roles of ATP-Dependent Chromatin Remodeling Enzymes in Nucleotide Excision Repair
Czaja, W., Mao, P., & Smerdon, M. J. (2012) · International Journal of Molecular Sciences · doi:10.3390/ijms130911954 · Cited by 40 · see citing works
Birkisdóttir, M. B., Jaarsma, D., Brandt, R. M. C., Barnhoorn, S., van Vliet, N., Imholz, S., van Oostrom, C. T., Nagarajah, B., Portilla Fernández, E., Roks, A. J. M., et al. (2021) · Aging Cell · doi:10.1111/acel.13302 · Cited by 35 · see citing works
Czaja, W., Mao, P., & Smerdon, M. J. (2014) · DNA repair · doi:10.1016/j.dnarep.2014.01.002 · Cited by 37 · see citing works
Gray, L. T., Fong, K. K., Pavelitz, T., & Weiner, A. M. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002972 · 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
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
Self-citationPluripotent Stem Cell-Based Approaches to Explore and Treat Optic Neuropathies
Rabesandratana, O., Goureau, O., & Orieux, G. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00651 · Cited by 34 · 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
Interaction between the Cockayne syndrome B and p53 proteins: implications for aging
Frontini, M., & Proietti‐De‐Santis, L. (2012) · Aging · doi:10.18632/aging.100439 · Cited by 31 · see citing works
Transcription-coupled homologous recombination after oxidative damage
Wei, L., Levine, A. S., & Lan, L. (2016) · DNA repair · doi:10.1016/j.dnarep.2016.05.009 · Cited by 29 · see citing works
Currie, S., Hadjivassiliou, M., Craven, I., Wilkinson, I. D., Griffiths, P. D., & Hoggard, N. (2012) · The Cerebellum · doi:10.1007/s12311-012-0405-3 · Cited by 29 · see citing works
Astrocytes in rare neurological conditions: Morphological and functional considerations
Ravi, K., Paidas, M. J., Saad, A. G., & Jayakumar, A. R. (2021) · The Journal of Comparative Neurology · doi:10.1002/cne.25118 · Cited by 27 · see citing works
Conceptual developments in the causes of Cockayne syndrome
Cleaver, J. E., Bezrookove, V., Revet, I. M., & Huang, E. J. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.02.005 · Cited by 26 · see citing works
Rad26p regulates the occupancy of histone H2A–H2B dimer at the active genes in vivo
Malik, S., Chaurasia, P., Lahudkar, S., Uprety, B., & Bhaumik, S. R. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr1244 · Cited by 26 · see citing works
Revet, I. M., Feeney, L., Tang, A. A., Huang, E. J., & Cleaver, J. E. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1202621109 · 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
Guo, Y., Chomiak, A. A., Hong, Y., Lowe, C. C., Kopsidas, C. A., Chan, W., Andrade, J., Pan, H., Zhou, X., Monuki, E. S., et al. (2021) · iScience · doi:10.1016/j.isci.2022.104519 · Cited by 24 · see citing works
Báez, S., Couto, B., Herrera, E., Bocanegra, Y., Trujillo, N., Madrigal-Zapata, L., Cardona, J. F., Manes, F. F., Ibáñez, A. M., & Villegas, A. (2013) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2013.00080 · Cited by 23 · see citing works
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy
Zaccai, T. C. F., Savitzki, D., Zivony-Elboum, Y., Vilboux, T., Fitts, E. C., Shoval, Y., Kalfon, L., Samra, N. N., Zohar, K., Gross, B., et al. (2016) · Brain · doi:10.1093/brain/aww295 · Cited by 23 · see citing works
Transcription 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
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex
Horibata, K., Saijo, M., Bay, M. N., Lan, L., Kuraoka, I., Brooks, P. J., Honma, M., Nohmi, T., Yasui, A., & Tanaka, K. (2010) · Genes to Cells · doi:10.1111/j.1365-2443.2010.01467.x · Cited by 22 · see citing works
Rainey, R. N., Ng, S.-Y., Llamas, J., van der Horst, G. T. J., & Segil, N. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.3890-15.2016 · Cited by 21 · see citing works
Weems, J. C., Slaughter, B. D., Unruh, J. R., Boeing, S., Hall, S. M., McLaird, M. B., Yasukawa, T., Aso, T., Svejstrup, J. Q., Conaway, J. W., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.c117.777946 · Cited by 21 · see citing works
XPD/ERCC2 mutations interfere in cellular responses to oxidative stress
Lerner, L. K., Moreno, N. C., Rocha, C. R. R., Munford, V., dos Santos, V. T., Soltys, D. T., Garcia, C. C. M., Sarasin, A. R., & Menck, C. F. M. (2019) · Mutagenesis · doi:10.1093/mutage/gez020 · Cited by 20 · see citing works
Oxidatively generated DNA/RNA damage in psychological stress states.
Jørgensen, A. (2013) · PubMed · Cited by 20 · see citing works
Aging—RNA in development and disease
Cookson, M. (2011) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.109 · Cited by 20 · see citing works
The Role of Oligodendrocytes in Neurodegenerative Diseases: Unwrapping the Layers
Panichi, L. B., Stanca, S., Dolciotti, C., & Bongioanni, P. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26104623 · Cited by 20 · see citing works
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome
Gitiaux, C., Blin, N., Hully, M., Echaniz‐Laguna, A., Calmels, N., Bahi‐Buisson, N., Desguerre, I., Dabaj, I., Wehbi, S., Quijano-Roy, S., et al. (2014) · Clinical Neurophysiology · doi:10.1016/j.clinph.2014.10.014 · Cited by 17 · see citing works
Introducing the Role of Genotoxicity in Neurodegenerative Diseases and Neuropsychiatric Disorders
Kisby, G. E., Wilson, D. M., & Spencer, P. S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25137221 · Cited by 16 · see citing works
Nanotechnology in Cancer Therapy: Targeting the Inhibition of Key DNA Repair Pathways
Aziz, K., Nowsheen, S., & Georgakilas, A. G. (2010) · Current Molecular Medicine · doi:10.2174/156652410792630599 · Cited by 16 · see citing works
Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome
Okoshi, Y., Tanuma, N., Miyata, R., & Hayashi, M. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.01.004 · Cited by 16 · see citing works
CSB ablation induced apoptosis is mediated by increased endoplasmic reticulum stress response
Caputo, M., Balzerano, A., Arisi, I., D’Onofrio, M., Brandi, R., Bongiorni, S., Brancorsini, S., Frontini, M., & Proietti‐De‐Santis, L. (2017) · PLoS ONE · doi:10.1371/journal.pone.0172399 · Cited by 16 · see citing works
Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model
Kajitani, G. S., Brace, L. E., Trevino-Villarreal, J. H., Trocha, K. M., MacArthur, M. R., Vose, S. C., Vargas, D., Bronson, R. T., Mitchell, S. J., Menck, C. F. M., et al. (2021) · Aging · doi:10.18632/aging.203617 · Cited by 15 · see citing works
CS proteins and ubiquitination: orchestrating DNA repair with transcription and cell division
Costanzo, F., Paccosi, E., Proietti‐De‐Santis, L., & Egly, J. (2024) · Trends in Cell Biology · doi:10.1016/j.tcb.2024.06.002 · Cited by 14 · see citing works
Malik, S., & Bhaumik, S. R. (2012) · Biochemistry · doi:10.1021/bi3005768 · Cited by 14 · see citing works
Accumulation of phosphorylated TDP ‐43 in the CNS of a patient with C ockayne syndrome
Sakurai, A., Makioka, K., Fukuda, T., Takatama, M., & Okamoto, K. (2013) · Neuropathology · doi:10.1111/neup.12038 · Cited by 14 · see citing works
From laboratory tests to functional characterisation of Cockayne syndrome
Lanzafame, M., Vaz, B., Nardò, T., Botta, E., Orioli, D., & Stefanini, M. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.03.007 · Cited by 13 · see citing works
Szepanowski, L.-P., Wruck, W., Kapr, J., Rossi, A., Fritsche, E., Krutmann, J., & Adjaye, J. (2024) · Cells · doi:10.3390/cells13070591 · Cited by 15 · see citing works
Cockayne syndrome b maintains neural precursor function
Sacco, R., Tamblyn, L., Rajakulendran, N., Bralha, F. N., Tropepe, V., & Laposa, R. R. (2012) · DNA repair · doi:10.1016/j.dnarep.2012.11.004 · Cited by 13 · see citing works
Paccosi, E., Balajee, A. S., & Proietti‐De‐Santis, L. (2022) · Frontiers in Aging · doi:10.3389/fragi.2022.960662 · Cited by 14 · see citing works
Nicolai, S., Filippi, S., Caputo, M., Čipák, L., Gregáň, J., Ammerer, G., Frontini, M., Willems, D., Prantera, G., Balajee, A. S., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0128558 · Cited by 13 · see citing works
Papel das proteínas XPD e DNA polimerase eta nas respostas de células humanas a danos no genoma
Lerner, L. K. (2014) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.5.2014.tde-20102014-103732 · Cited by 13 · see citing works
Barzilai, A. (2013) · DNA repair · doi:10.1016/j.dnarep.2013.04.007 · Cited by 11 · see citing works
Paccosi, E., & Proietti‐De‐Santis, L. (2021) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2021.111466 · Cited by 12 · see citing works
The Paf1 complex is required for RNA polymerase II removal in response to DNA damage
Chen, F., Liu, B., Zhou, H., & Long, J. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2207332119 · Cited by 11 · see citing works
Cockayne syndrome: a diffusion tensor imaging and volumetric study
Koob, M., Rousseau, F., Laugel, V., Meyer, N., Armspach, J., Girard, N. J., & Dietemann, J. (2016) · British Journal of Radiology · doi:10.1259/bjr.20151033 · Cited by 12 · see citing works
Dementia in People with Intellectual Disabilities
Deb, S. S., Strydom, A., Hithersay, R., Gomiero, T., Vreese, L. P. D., Janicki, M. P., Jokinen, N. S., & Service, K. P. (2022) · Springer eBooks · doi:10.1007/978-3-319-95720-3_28 · Cited by 10 · see citing works
Liang, F., Li, B., Xu, Y., Gong, J., Zheng, S., Zhang, Y., & Wang, Y. (2022) · Pharmacological Research · doi:10.1016/j.phrs.2022.106637 · Cited by 9 · see citing works
Lichenoid and interface dermatitis
Wang, W., & Lazar, A. J. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4160-5649-2.00007-x · Cited by 9 · see citing works
DNA Damage as a Critical Factor of Stem Cell Aging and Organ Homeostasis
Espada, L., & Ermolaeva, M. (2016) · Current Stem Cell Reports · doi:10.1007/s40778-016-0052-6 · Cited by 8 · see citing works
Neurometabolic and neurodegenerative diseases in children
Radke, J., Stenzel, W., & Goebel, H. H. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-802395-2.00009-2 · Cited by 8 · see citing works
The Role of DNA Damage and Repair in Neurotoxicity Caused by Cancer Therapies
Duarte, D. B., & Vasko, M. R. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-384999-1.10013-7 · Cited by 7 · see citing works
Weems, J. C., Slaughter, B. D., Unruh, J. R., Weaver, K. J., Miller, B. D., Delventhal, K. M., Conaway, J. W., & Conaway, R. C. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100862 · Cited by 7 · see citing works
Relationship Between DNA Damage and Energy Metabolism: Evidence from DNA Repair Deficiency Syndromes
Vose, S. C., & Mitchell, J. R. (2011) · InTech eBooks · doi:10.5772/25053 · Cited by 6 · see citing works
Wu, Z., Zhu, X., Qian, Y., Xu, Y., & Wang, Y. (2019) · DNA repair · doi:10.1016/j.dnarep.2019.102696 · Cited by 6 · see citing works
Cockayne Syndrome Complicated by Moyamoya Vasculopathy and Stroke
Stowe, R. C., Jiménez-Gómez, A., Balasa, A., & Clark, G. (2018) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2018.05.002 · Cited by 6 · see citing works
Genetic and Metabolic Disorders of the White Matter
Vanderver, A. L., & Wolf, N. I. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0435-8.00071-8 · Cited by 6 · see citing works
Genetically Determined Neuropathies
Bilbao, J. M., & Schmidt, R. E. (2014) · Springer eBooks · doi:10.1007/978-3-319-07311-8_19 · Cited by 6 · see citing works
Biochemical Battle: Influence of Omega-6 Fatty Acids on the Formation of DNA Adducts with 4-HNE
Błaszczyk, E., & Karwowski, B. T. (2025) · Current Issues in Molecular Biology · doi:10.3390/cimb47080645 · 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
Cockayne syndrome type: a very rare association with hemorrhagic stroke
Atalay, B., Sorkun, M., & Karatoprak, E. (2021) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2021.05.022 · Cited by 5 · see citing works
Nonneoplastic Diseases of the Testis
Nistal, M., Paniagua, R., & González‐Peramato, P. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-54941-7.00012-8 · Cited by 5 · see citing works
Miyahara, H., Itonaga, T., Maeda, T., Izumi, T., & Ihara, K. (2014) · Neuropathology · doi:10.1111/neup.12183 · Cited by 5 · see citing works
- Authors
- Weidenheim, K. M., Dickson, D. W., & Rapin, I.
- Affiliations
- Albert Einstein College of Medicine (US)
- Corresponding author
- Rapin, Isabelle
- ORCID
- Dickson, Dennis W.
- Venue
- Mechanisms of Ageing and Development
- Publisher
- Elsevier BV
- Published
- 2009-09
- Volume
- 130
- Issue
- 9
- Pages
- 619-636
- ISSN
- 0047-6374 (ISSN-L)
- OpenAlex
- W2041742383
- Cited by
- 156
- References
- 108
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 7 · 2023: 2 · 2022: 9 · 2021: 12 · 2020: 10 · 2019: 5 · 2018: 8 · 2017: 7 · 2016: 14 · 2015: 9 · 2014: 15 · 2013: 12 · 2012: 15
- FWCI
- 4.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mechanisms of Ageing and Development (publishedVersion)
- PubMed (publishedVersion)
- 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 › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- Cockayne syndrome, xeroderma pigmentosum, transcription-coupled repair, premature aging, neurodegeneration, cerebellar degeneration, demyelinating peripheral neuropathy, vasculopathy, oligodendrocyte damage, Schwann cells, development failure, dwarfism, microcephaly, gene silencing
- MeSH terms
- Adolescent, Adult, Child, Cockayne Syndrome, Female, Humans, Male, Myelin Sheath, Nerve Degeneration, Neurons, Physiological Phenomena, Fatal Outcome, Aging, Premature
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