메뉴 건너뛰기




Volumn 109, Issue 12, 2012, Pages 4627-4632

Dysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome

Author keywords

H2Ax; Behavior; Rotenone; Transcription coupled repair

Indexed keywords

CSB PROTEIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; MYELIN; MYELIN BASIC PROTEIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

EID: 84858649212     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1202621109     Document Type: Article
Times cited : (22)

References (53)
  • 1
    • 0026508774 scopus 로고
    • Cockayne syndrome: Review of 140 cases
    • Nance MA, Berry SA (1992) Cockayne syndrome: Review of 140 cases. Am J Med Genet 42:68-84.
    • (1992) Am J Med Genet , vol.42 , pp. 68-84
    • Nance, M.A.1    Berry, S.A.2
  • 2
    • 69949098944 scopus 로고    scopus 로고
    • Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
    • Weidenheim KM, Dickson DW, Rapin I (2009) Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev 130:619-636.
    • (2009) Mech Ageing Dev , vol.130 , pp. 619-636
    • Weidenheim, K.M.1    Dickson, D.W.2    Rapin, I.3
  • 3
    • 70350065725 scopus 로고    scopus 로고
    • Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity
    • Cleaver JE, Lam ET, Revet I (2009) Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity. Nat Rev Genet 10:756-768.
    • (2009) Nat Rev Genet , vol.10 , pp. 756-768
    • Cleaver, J.E.1    Lam, E.T.2    Revet, I.3
  • 4
    • 43849107357 scopus 로고    scopus 로고
    • Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
    • Brooks PJ, Cheng T-F, Cooper L (2008) Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage? DNA Repair (Amst) 7:834-848.
    • (2008) DNA Repair (Amst) , vol.7 , pp. 834-848
    • Brooks, P.J.1    Cheng, T.-F.2    Cooper, L.3
  • 6
    • 11144242851 scopus 로고    scopus 로고
    • Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome
    • DOI 10.1016/j.braindev.2004.04.001, PII S0387760404000853
    • Hayashi M, Araki S, Kohyama J, Shioda K, Fukatsu R (2005) Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. Brain Dev 27:34-38. (Pubitemid 40051302)
    • (2005) Brain and Development , vol.27 , Issue.1 , pp. 34-38
    • Hayashi, M.1    Araki, S.2    Kohyama, J.3    Shioda, K.4    Fukatsu, R.5
  • 7
    • 58149144732 scopus 로고    scopus 로고
    • Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice
    • Kirkali G, de Souza-Pinto NC, Jaruga P, Bohr VA, Dizdaroglu M (2009) Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice. DNA Repair (Amst) 8: 274-278.
    • (2009) DNA Repair (Amst) , vol.8 , pp. 274-278
    • Kirkali, G.1    De Souza-Pinto, N.C.2    Jaruga, P.3    Bohr, V.A.4    Dizdaroglu, M.5
  • 8
    • 0035902108 scopus 로고    scopus 로고
    • Genome maintenance mechanisms for preventing cancer
    • Hoeijmakers JH (2001) Genome maintenance mechanisms for preventing cancer. Nature 411:366-374.
    • (2001) Nature , vol.411 , pp. 366-374
    • Hoeijmakers, J.H.1
  • 9
    • 75749150810 scopus 로고    scopus 로고
    • Direct restart of a replication fork stalled by a head-on RNA polymerase
    • Pomerantz RT, O'Donnell M (2010) Direct restart of a replication fork stalled by a head-on RNA polymerase. Science 327:590-592.
    • (2010) Science , vol.327 , pp. 590-592
    • Pomerantz, R.T.1    O'Donnell, M.2
  • 10
    • 0018611921 scopus 로고
    • Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome
    • Lehmann AR, Kirk-Bell S, Mayne L (1979) Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome. Cancer Res 39:4237-4241. (Pubitemid 10189163)
    • (1979) Cancer Research , vol.39 , Issue.10 , pp. 4237-4241
    • Lehmann, A.R.1    Kirk-Bell, S.2    Mayne, L.3
  • 11
    • 0019857509 scopus 로고
    • A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation
    • Fujiwara Y, Ichihashi M, Kano Y, Goto K, Shimizu K (1981) A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation. J Invest Dermatol 77:256-263. (Pubitemid 12233935)
    • (1981) Journal of Investigative Dermatology , vol.77 , Issue.3 , pp. 256-263
    • Fujiwara, Y.1    Ichihashi, M.2    Kano, Y.3
  • 12
    • 0028988703 scopus 로고
    • UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I
    • Itoh T, Fujiwara Y, Ono T, Yamaizumi M (1995) UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. Am J Hum Genet 56: 1267-1276.
    • (1995) Am J Hum Genet , vol.56 , pp. 1267-1276
    • Itoh, T.1    Fujiwara, Y.2    Ono, T.3    Yamaizumi, M.4
  • 13
    • 51849110284 scopus 로고    scopus 로고
    • COFS syndrome: Three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
    • Laugel V, et al. (2008) COFS syndrome: Three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet 45:564-571.
    • (2008) J Med Genet , vol.45 , pp. 564-571
    • Laugel, V.1
  • 14
    • 29244483920 scopus 로고    scopus 로고
    • Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts
    • DOI 10.1016/j.dnarep.2005.06.017, PII S1568786405001953
    • Spivak G, Hanawalt PC (2006) Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst) 5:13-22. (Pubitemid 41832507)
    • (2006) DNA Repair , vol.5 , Issue.1 , pp. 13-22
    • Spivak, G.1    Hanawalt, P.C.2
  • 15
    • 65549153127 scopus 로고    scopus 로고
    • A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage
    • Nardo T, et al. (2009) A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci USA 106:6209-6214.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 6209-6214
    • Nardo, T.1
  • 17
    • 4444332513 scopus 로고    scopus 로고
    • Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage
    • de Waard H, et al. (2004) Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Mol Cell Biol 24:7941-7948.
    • (2004) Mol Cell Biol , vol.24 , pp. 7941-7948
    • De Waard, H.1
  • 18
    • 0346101496 scopus 로고    scopus 로고
    • Cockayne Syndrome Group B Cellular and Biochemical Functions
    • DOI 10.1086/380399
    • Licht CL, Stevnsner T, Bohr VA (2003) Cockayne syndrome group B cellular and biochemical functions. Am J Hum Genet 73:1217-1239. (Pubitemid 38037417)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.6 , pp. 1217-1239
    • Licht, C.L.1    Stevnsner, T.2    Bohr, V.A.3
  • 19
    • 33747194740 scopus 로고    scopus 로고
    • Cockayne Syndrome A and B Proteins Differentially Regulate Recruitment of Chromatin Remodeling and Repair Factors to Stalled RNA Polymerase II In Vivo
    • DOI 10.1016/j.molcel.2006.06.029, PII S1097276506004655
    • Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH (2006) Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell 23:471-482. (Pubitemid 44226450)
    • (2006) Molecular Cell , vol.23 , Issue.4 , pp. 471-482
    • Fousteri, M.1    Vermeulen, W.2    Van Zeeland, A.A.3    Mullenders, L.H.F.4
  • 20
  • 21
    • 0037326318 scopus 로고    scopus 로고
    • Rescue of arrested RNA polymerase II complexes
    • Svejstrup JQ (2003) Rescue of arrested RNA polymerase II complexes. J Cell Sci 116: 447-451.
    • (2003) J Cell Sci , vol.116 , pp. 447-451
    • Svejstrup, J.Q.1
  • 22
    • 77149172083 scopus 로고    scopus 로고
    • Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging
    • Kamenisch Y, et al. (2010) Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. J Exp Med 207:379-390.
    • (2010) J Exp Med , vol.207 , pp. 379-390
    • Kamenisch, Y.1
  • 23
    • 53549085960 scopus 로고    scopus 로고
    • CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response
    • Filippi S, et al. (2008) CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response. EMBO J 27:2545-2556.
    • (2008) EMBO J , vol.27 , pp. 2545-2556
    • Filippi, S.1
  • 25
    • 35748976209 scopus 로고    scopus 로고
    • p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response
    • DOI 10.1016/j.dnarep.2007.07.005, PII S1568786407002534
    • Laposa RR, Feeney L, Crowley E, de Feraudy S, Cleaver JE (2007) p53 suppression overwhelms DNA polymerase eta deficiency in determining the cellular UV DNA damage response. DNA Repair (Amst) 6:1794-1804. (Pubitemid 350052730)
    • (2007) DNA Repair , vol.6 , Issue.12 , pp. 1794-1804
    • Laposa, R.R.1    Feeney, L.2    Crowley, E.3    De Feraudy, S.4    Cleaver, J.E.5
  • 26
    • 7044237034 scopus 로고    scopus 로고
    • Divide and die: Cell cycle events as triggers of nerve cell death
    • DOI 10.1523/JNEUROSCI.3347-04.2004
    • Herrup K, Neve R, Ackerman SL, Copani A (2004) Divide and die: Cell cycle events as triggers of nerve cell death. J Neurosci 24:9232-9239. (Pubitemid 39426158)
    • (2004) Journal of Neuroscience , vol.24 , Issue.42 , pp. 9232-9239
    • Herrup, K.1    Neve, R.2    Ackerman, S.L.3    Copani, A.4
  • 27
    • 79960341941 scopus 로고    scopus 로고
    • Premature aging and cancer in nucleotide excision repair-disorders
    • Diderich K, Alanazi M, Hoeijmakers JH (2011) Premature aging and cancer in nucleotide excision repair-disorders. DNA Repair (Amst) 10:772-780.
    • (2011) DNA Repair (Amst) , vol.10 , pp. 772-780
    • Diderich, K.1    Alanazi, M.2    Hoeijmakers, J.H.3
  • 28
    • 0037468273 scopus 로고    scopus 로고
    • The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells
    • DOI 10.1038/sj.onc.1206187
    • Kyng KJ, et al. (2003) The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells. Oncogene 22:1135-1149. (Pubitemid 36367204)
    • (2003) Oncogene , vol.22 , Issue.8 , pp. 1135-1149
    • Kyng, K.J.1    May, A.2    Brosh Jr., R.M.3    Cheng, W.-H.4    Chen, C.5    Becker, K.G.6    Bohr, V.A.7
  • 34
    • 34247169028 scopus 로고    scopus 로고
    • Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
    • DOI 10.1016/j.neuroscience.2006.12.020, PII S0306452206016885, Genome Dynamics and DNA Repair in the CNS
    • Kraemer KH, et al. (2007) Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship. Neuroscience 145: 1388-1396. (Pubitemid 46602743)
    • (2007) Neuroscience , vol.145 , Issue.4 , pp. 1388-1396
    • Kraemer, K.H.1    Patronas, N.J.2    Schiffmann, R.3    Brooks, B.P.4    Tamura, D.5    DiGiovanna, J.J.6
  • 38
    • 33646176653 scopus 로고    scopus 로고
    • Targeting of p300/CREB binding protein coactivators by simian virus 40 is mediated through p53
    • Borger DR, DeCaprio JA (2006) Targeting of p300/CREB binding protein coactivators by simian virus 40 is mediated through p53. J Virol 80:4292-4303.
    • (2006) J Virol , vol.80 , pp. 4292-4303
    • Borger, D.R.1    DeCaprio, J.A.2
  • 39
    • 23844558266 scopus 로고    scopus 로고
    • A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
    • Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet 39:359-407.
    • (2005) Annu Rev Genet , vol.39 , pp. 359-407
    • Wallace, D.C.1
  • 40
    • 79957705193 scopus 로고    scopus 로고
    • Functional relevance of the histone gammaH2Ax in the response to DNA damaging agents
    • Revet I, et al. (2011) Functional relevance of the histone gammaH2Ax in the response to DNA damaging agents. Proc Natl Acad Sci USA 108:8663-8667.
    • (2011) Proc Natl Acad Sci USA , vol.108 , pp. 8663-8667
    • Revet, I.1
  • 42
    • 33846030099 scopus 로고    scopus 로고
    • Impaired genome maintenance suppresses the growth hormone - Insulin-like growth factor 1 axis in mice with Cockayne syndrome
    • van der Pluijm I, et al. (2007) Impaired genome maintenance suppresses the growth hormone - insulin-like growth factor 1 axis in mice with Cockayne syndrome. PLoS Biol 5:e2.
    • (2007) PLoS Biol , vol.5
    • Van Der Pluijm, I.1
  • 44
    • 0034192532 scopus 로고    scopus 로고
    • Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum
    • Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M (2000) Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet 9:1171-1175. (Pubitemid 30248602)
    • (2000) Human Molecular Genetics , vol.9 , Issue.8 , pp. 1171-1175
    • Colella, S.1    Nardo, T.2    Botta, E.3    Lehmann, A.R.4    Stefanini, M.5
  • 46
    • 35348979671 scopus 로고    scopus 로고
    • ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain
    • DOI 10.1016/j.dnarep.2007.06.011, PII S1568786407002212
    • Gorodetsky E, Calkins S, Ahn J, Brooks PJ (2007) ATM, the Mre11/Rad50/Nbs1 complex, and topoisomerase I are concentrated in the nucleus of Purkinje neurons in the juvenile human brain. DNA Repair (Amst) 6:1698-1707. (Pubitemid 47600113)
    • (2007) DNA Repair , vol.6 , Issue.11 , pp. 1698-1707
    • Gorodetsky, E.1    Calkins, S.2    Ahn, J.3    Brooks, P.J.4
  • 48
    • 84855288980 scopus 로고    scopus 로고
    • Age-related neuronal degeneration: Complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology
    • Jaarsma D, et al. (2011) Age-related neuronal degeneration: Complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet 7:e1002405.
    • (2011) PLoS Genet , vol.7
    • Jaarsma, D.1
  • 50
    • 0029785723 scopus 로고    scopus 로고
    • Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis
    • Ljungman M, Zhang F (1996) Blockage of RNA polymerase as a possible trigger for u.v. light-induced apoptosis. Oncogene 13:823-831. (Pubitemid 26312910)
    • (1996) Oncogene , vol.13 , Issue.4 , pp. 823-831
    • Ljungman, M.1    Zhang, F.2
  • 51
    • 0037187830 scopus 로고    scopus 로고
    • Transcription coupled repair efficiency determines the cell cycle progression and apoptosis after UV exposure in hamster cells
    • Proietti De Santis L, et al. (2002) Transcription coupled repair efficiency determines the cell cycle progression and apoptosis after UV exposure in hamster cells. DNA Repair (Amst) 1:209-223.
    • (2002) DNA Repair (Amst) , vol.1 , pp. 209-223
    • Proietti De Santis, L.1
  • 52
    • 0030916337 scopus 로고    scopus 로고
    • Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition
    • van der Horst GT, et al. (1997) Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. Cell 89:425-435.
    • (1997) Cell , vol.89 , pp. 425-435
    • Van Der Horst, G.T.1
  • 53
    • 0028978672 scopus 로고
    • High susceptibility to ultraviolet- induced carcinogenesis in mice lacking XPC
    • Sands AT, Abuin A, Sanchez A, Conti CJ, Bradley A (1995) High susceptibility to ultraviolet- induced carcinogenesis in mice lacking XPC. Nature 377:162-165.
    • (1995) Nature , vol.377 , pp. 162-165
    • Sands, A.T.1    Abuin, A.2    Sanchez, A.3    Conti, C.J.4    Bradley, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.