Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

DNA Repair

Volumn 7, Issue 6, 2008, Pages 834-848

  Brooks, P J ^a   Cheng, Tsu Fan ^a   Cooper, Lori ^a  

^a NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM   (United States)

Author keywords

Aicardi Gouti res syndrome; Calcification; Cockayne syndrome; Innate immune system; Myelin; Oligodendrocytes; RNASEH2; Thyroid hormone; Toll like receptor; TREX1; Vascular disease

Indexed keywords

CELL DNA; MYELIN; THYROID HORMONE; TRANSCRIPTION FACTOR IIH;

AICARDI GOUTIERES SYNDROME; ASTROCYTE; ATAXIA TELANGIECTASIA; BRAIN CALCIFICATION; CELL CYCLE S PHASE; COCKAYNE SYNDROME; COFS SYNDROME; DNA DAMAGE; DNA REPAIR; GENE; GENE MUTATION; HUMAN; HYPOTHESIS; MICROGLIA; MYELINATION; NERVE DEGENERATION; NIJMEGEN BREAKAGE SYNDROME; NONHUMAN; OLIGODENDROGLIA; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVIEW; RNASEH2 GENE; SECKEL SYNDROME; SPINOCEREBELLAR DEGENERATION; TRANSCRIPTION REGULATION; TREX1 GENE; XERODERMA PIGMENTOSUM;

BRAIN DISEASES; DNA DAMAGE; DNA REPAIR; HUMANS; IMMUNITY, NATURAL; MUTATION; TRANSCRIPTION FACTOR TFIIH;

EID: 43849107357     PISSN: 15687864     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dnarep.2008.01.017     Document Type: Review

References (100)

1. Friedberg E., Walker G., Siede W., Wood R., Schultz R., and Ellenberger T. DNA Repair and Mutagenesis (2005), ASM Press, Washington, DC
2. Kandel E., Schwatrz J., and Jessel T. Principles of Neural Science (1991), Elsevier, New York
3. Ledoux S.P., Shen C.C., Grishko V.I., Fields P.A., Gard A.L., and Wilson G.L. Glial cell-specific differences in response to alkylation damage. Glia 24 (1998) 304-312
4. Hollensworth S.B., Shen C., Sim J.E., Spitz D.R., Wilson G.L., and LeDoux S.P. Glial cell type-specific responses to menadione-induced oxidative stress. Free Radic. Biol. Med. 28 (2000) 1161-1174
5. Guillemin G.J., and Brew B.J. Microglia, macrophages, perivascular macrophages, and pericytes: a review of function and identification. J. Leukoc. Biol. 75 (2004) 388-397
6. Kreutzberg G.W. Microglia: a sensor for pathological events in the CNS. Trends Neurosci. 19 (1996) 312-318
7. Nimmerjahn A., Kirchhoff F., and Helmchen F. Resting microglial cells are highly dynamic surveillants of brain parenchyma in vivo. Science 308 (2005) 1314-1318
8. Raivich G. Like cops on the beat: the active role of resting microglia. Trends Neurosci. 28 (2005) 571-573
9. Kadiu I., Glanzer J.G., Kipnis J., Gendelman H.E., and Thomas M.P. Mononuclear phagocytes in the pathogenesis of neurodegenerative diseases. Neurotox. Res. 8 (2005) 25-50
10. Rass U., Ahel I., and West S.C. Defective DNA repair and neurodegenerative disease. Cell 130 (2007) 991-1004
11. Itoh M., Hayashi M., Shioda K., Minagawa M., Isa F., Tamagawa K., Morimatsu Y., and Oda M. Neurodegeneration in hereditary nucleotide repair disorders. Brain Dev. 21 (1999) 326-333
12. Crawford T.O. Ataxia telangiectasia. Semin. Pediatr. Neurol. 5 (1998) 287-294
13. Taylor A.M., Groom A., and Byrd P.J. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst.) 3 (2004) 1219-1225
14. Caldecott K.W. DNA single-strand break repair and spinocerebellar ataxia. Cell 112 (2003) 7-10
15. Gueven N., Chen P., Nakamura J., Becherel O.J., Kijas A.W., Grattan-Smith P., and Lavin M.F. A subgroup of spinocerebellar ataxias defective in DNA damage responses. Neuroscience 145 (2007) 1418-1425
16. Brumback R.A., Brooks P.J., and Leech R. Cockayne syndrome. In: Golden J., and Harding B. (Eds). Pediatric Neuropathology (2004), International Society of Neuropathology Press, Pegnitz
17. Del Bigio M.R., Greenberg C.R., Rorke L.B., Schnur R., McDonald-McGinn D.M., and Zackai E.H. Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J. Neuropathol. Exp. Neurol. 56 (1997) 1147-1157
18. Kraemer K.H., Patronas N.J., Schiffmann R., Brooks B.P., Tamura D., and DiGiovanna J.J. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship. Neuroscience 145 (2007) 1388-1396
19. Barth P.G. The neuropathology of Aicardi-Goutières syndrome. Eur. J. Paediatr. Neurol. 6 Suppl. A (2002) A27-A31 (discussion A37-29, A77-86)
20. Hernandez D., McConville C.M., Stacey M., Woods C.G., Brown M.M., Shutt P., Rysiecki G., and Taylor A.M. A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J. Med. Genet. 30 (1993) 135-140
21. Klein C., Wenning G.K., Quinn N.P., and Marsden C.D. Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov. Disord. 11 (1996) 217-220
22. Delia D., Piane M., Buscemi G., Savio C., Palmeri S., Lulli P., Carlessi L., Fontanella E., and Chessa L. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum. Mol. Genet. 13 (2004) 2155-2163
23. Fernet M., Gribaa M., Salih M.A., Seidahmed M.Z., Hall J., and Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum. Mol. Genet. 14 (2005) 307-318
24. Andrews A., Barrett S., and Robbins J. Xeroderma pigmentosun neurological abnormalities correlate with the colony forming ability after ultraviolet irradiation. Proc. Natl. Acad. Sci. U.S.A. 75 (1978) 1984-1988
25. Lehmann A.R. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 15 (2001) 15-23
26. Brooks P.J. The case for 8,5′-cyclopurine-2′-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum. Neuroscience 145 (2007) 1407-1417
27. Ahel I., Rass U., El-Khamisy S.F., Katyal S., Clements P.M., McKinnon P.J., Caldecott K.W., and West S.C. The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature 443 (2006) 713-716
28. el-Khamisy S.F., and Caldecott K.W. DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. Neuroscience 145 (2007) 1260-1266
29. McKinnon P.J., and Caldecott K.W. DNA strand break repair and human genetic disease. Annu. Rev. Genom. Hum.Genet. 8 (2007) 37-55
30. Oka A., and Takashima S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci. Lett. 252 (1998) 195-198
31. Barlow C., Ribaut-Barassin C., Zwingman T.A., Pope A.J., Brown K.D., Owens J.W., Larson D., Harrington E.A., Haeberle A.M., Mariani J., Eckhaus M., Herrup K., Bailly Y., and Wynshaw-Boris A. ATM is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation. Proc. Natl. Acad. Sci. U.S.A. 97 (2000) 871-876
32. Biton S., Dar I., Mittelman L., Pereg Y., Barzilai A., and Shiloh Y. Nuclear ataxia-telangiectasia mutated (ATM) mediates the cellular response to DNA double strand breaks in human neuron-like cells. J. Biol. Chem. 281 (2006) 17482-17491
33. Biton S., Gropp M., Itsykson P., Pereg Y., Mittelman L., Johe K., Reubinoff B., and Shiloh Y. ATM-mediated response to DNA double strand breaks in human neurons derived from stem cells. DNA Repair (Amst.) 6 (2007) 128-134
34. Dar I., Biton S., Shiloh Y., and Barzilai A. Analysis of the ataxia telangiectasia mutated-mediated DNA damage response in murine cerebellar neurons. J. Neurosci. 26 (2006) 7767-7774
35. Gorodetsky E., Calkins S., Ahn J., and Brooks P.J. 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 (2007) 1698-1707
36. Lee Y., Barnes D.E., Lindahl T., and McKinnon P.J. Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. Genes Dev. 14 (2000) 2576-2580
37. Lee Y., Chong M.J., and McKinnon P.J. Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status. J. Neurosci. 21 (2001) 6687-6693
38. Abner C.W., and McKinnon P.J. The DNA double-strand break response in the nervous system. DNA Repair (Amst.) 3 (2004) 1141-1147
39. Schaeffer L., Roy R., Humbert S., Moncollin V., Vermeulen W., Hoeijmakers J.H., Chambon P., and Egly J.M. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Science 260 (1993) 58-63
40. Vermeulen W., van Vuuren A.J., Chipoulet M., Schaeffer L., Appeldoorn E., Weeda G., Jaspers N.G., Priestley A., Arlett C.F., Lehmann A.R., et al. Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome. Cold Spring Harb. Symp. Quant. Biol. 59 (1994) 317-329
41. Egly J.M. The 14th Datta lecture. TFIIH: from transcription to clinic. FEBS Lett. 498 (2001) 124-128
42. Coin F., Oksenych V., and Egly J.M. Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair. Mol. Cell 26 (2007) 245-256
43. Rochette-Egly C., Adam S., Rossignol M., Egly J.M., and Chambon P. Stimulation of RAR alpha activation function AF-1 through binding to the general transcription factor TFIIH and phosphorylation by CDK7. Cell 90 (1997) 97-107
44. Compe E., Malerba M., Soler L., Marescaux J., Borrelli E., and Egly J.M. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat. Neurosci. 10 (2007) 1414-1422
45. de Boer J., de Wit J., van Steeg H., Berg R.J., Morreau H., Visser P., Lehmann A.R., Duran M., Hoeijmakers J.H., and Weeda G. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol. Cell 1 (1998) 981-990
46. Ito S., Kuraoka I., Chymkowitch P., Compe E., Takedachi A., Ishigami C., Coin F., Egly J.M., and Tanaka K. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol. Cell 26 (2007) 231-243
47. Friedberg E.C., and Wood R.D. New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability. Mol. Cell 26 (2007) 162-164
48. Scharer O.D. The molecular basis for different disease states caused by mutations in TFIIH and XPG. DNA Repair (Amst.) 7 (2008) 339-344
49. Lindenbaum Y., Dickson D., Rosenbaum P., Kraemer K., Robbins I., and Rapin I. Xeroderma pigmentosum/Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur. J. Paediatr. Neurol. 5 (2001) 225-242
50. Aicardi J. Aicardi-Goutières syndrome: special type early-onset encephalopathy. Eur. J. Paediatr. Neurol. 6 Suppl. A (2002) A1-A7 (discussion A23-25, A77-86)
51. Rice G., Patrick T., Parmar R., Taylor C.F., Aeby A., Aicardi J., Artuch R., Montalto S.A., Bacino C.A., Barroso B., Baxter P., Benko W.S., Bergmann C., Bertini E., Biancheri R., Blair E.M., Blau N., Bonthron D.T., Briggs T., Brueton L.A., Brunner H.G., Burke C.J., Carr I.M., Carvalho D.R., Chandler K.E., Christen H.J., Corry P.C., Cowan F.M., Cox H., D'Arrigo S., Dean J., De Laet C., De Praeter C., Dery C., Ferrie C.D., Flintoff K., Frints S.G., Garcia-Cazorla A., Gener B., Goizet C., Goutières F., Green A.J., Guet A., Hamel B.C., Hayward B.E., Heiberg A., Hennekam R.C., Husson M., Jackson A.P., Jayatunga R., Jiang Y.H., Kant S.G., Kao A., King M.D., Kingston H.M., Klepper J., van der Knaap M.S., Kornberg A.J., Kotzot D., Kratzer W., Lacombe D., Lagae L., Landrieu P.G., Lanzi G., Leitch A., Lim M.J., Livingston J.H., Lourenco C.M., Lyall E.G., Lynch S.A., Lyons M.J., Marom D., McClure J.P., McWilliam R., Melancon S.B., Mewasingh L.D., Moutard M.L., Nischal K.K., Ostergaard J.R., Prendiville J., Rasmussen M., Rogers R.C., Roland D., Rosser E.M., Rostasy K., Roubertie A., Sanchis A., Schiffmann R., Scholl-Burgi S., Seal S., Shalev S.A., Corcoles C.S., Sinha G.P., Soler D., Spiegel R., Stephenson J.B., Tacke U., Tan T.Y., Till M., Tolmie J.L., Tomlin P., Vagnarelli F., Valente E.M., Van Coster R.N., Van der Aa N., Vanderver A., Vles J.S., Voit T., Wassmer E., Weschke B., Whiteford M.L., Willemsen M.A., Zankl A., Zuberi S.M., Orcesi S., Fazzi E., Lebon P., and Crow Y.J. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am. J. Hum. Genet. 81 (2007) 713-725
52. Crow Y.J., Hayward B.E., Parmar R., Robins P., Leitch A., Ali M., Black D.N., van Bokhoven H., Brunner H.G., Hamel B.C., Corry P.C., Cowan F.M., Frints S.G., Klepper J., Livingston J.H., Lynch S.A., Massey R.F., Meritet J.F., Michaud J.L., Ponsot G., Voit T., Lebon P., Bonthron D.T., Jackson A.P., Barnes D.E., and Lindahl T. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat. Genet. 38 (2006) 917-920
53. Crow Y.J., Leitch A., Hayward B.E., Garner A., Parmar R., Griffith E., Ali M., Semple C., Aicardi J., Babul-Hirji R., Baumann C., Baxter P., Bertini E., Chandler K.E., Chitayat D., Cau D., Dery C., Fazzi E., Goizet C., King M.D., Klepper J., Lacombe D., Lanzi G., Lyall H., Martinez-Frias M.L., Mathieu M., McKeown C., Monier A., Oade Y., Quarrell O.W., Rittey C.D., Rogers R.C., Sanchis A., Stephenson J.B., Tacke U., Till M., Tolmie J.L., Tomlin P., Voit T., Weschke B., Woods C.G., Lebon P., Bonthron D.T., Ponting C.P., and Jackson A.P. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat. Genet. 38 (2006) 910-916
54. Richards A., van den Maagdenberg A.M., Jen J.C., Kavanagh D., Bertram P., Spitzer D., Liszewski M.K., Barilla-Labarca M.L., Terwindt G.M., Kasai Y., McLellan M., Grand M.G., Vanmolkot K.R., de Vries B., Wan J., Kane M.J., Mamsa H., Schafer R., Stam A.H., Haan J., de Jong P.T., Storimans C.W., van Schooneveld M.J., Oosterhuis J.A., Gschwendter A., Dichgans M., Kotschet K.E., Hodgkinson S., Hardy T.A., Delatycki M.B., Hajj-Ali R.A., Kothari P.H., Nelson S.F., Frants R.R., Baloh R.W., Ferrari M.D., and Atkinson J.P. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat. Genet. 39 (2007) 1068-1070
55. Lee-Kirsch M.A., Gong M., Chowdhury D., Senenko L., Engel K., Lee Y.A., de Silva U., Bailey S.L., Witte T., Vyse T.J., Kere J., Pfeiffer C., Harvey S., Wong A., Koskenmies S., Hummel O., Rohde K., Schmidt R.E., Dominiczak A.F., Gahr M., Hollis T., Perrino F.W., Lieberman J., and Hubner N. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat. Genet. 39 (2007) 1065-1067
56. Rice G., Newman W.G., Dean J., Patrick T., Parmar R., Flintoff K., Robins P., Harvey S., Hollis T., O'Hara A., Herrick A.L., Bowden A.P., Perrino F.W., Lindahl T., Barnes D.E., and Crow Y.J. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutières syndrome. Am. J. Hum. Genet. 80 (2007) 811-815
57. Lee-Kirsch M.A., Chowdhury D., Harvey S., Gong M., Senenko L., Engel K., Pfeiffer C., Hollis T., Gahr M., Perrino F.W., Lieberman J., and Hubner N. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J. Mol. Med. 85 (2007) 531-537
58. Morita M., Stamp G., Robins P., Dulic A., Rosewell I., Hrivnak G., Daly G., Lindahl T., and Barnes D.E. Gene-targeted mice lacking the Trex1 (DNase III) 3′ → 5′ DNA exonuclease develop inflammatory myocarditis. Mol. Cell Biol. 24 (2004) 6719-6727
59. Janeway Jr. C.A., and Medzhitov R. Innate immune recognition. Annu. Rev. Immunol. 20 (2002) 197-216
60. Unterholzner L., and Bowie A.G. The interplay between viruses and innate immune signaling: recent insights and therapeutic opportunities. Biochem. Pharmacol. 75 (2007) 589-602
61. Ishii K.J., and Akira S. Innate immune recognition of, and regulation by, DNA. Trends Immunol. 27 (2006) 525-532
62. Takaoka A., Wang Z., Choi M.K., Yanai H., Negishi H., Ban T., Lu Y., Miyagishi M., Kodama T., Honda K., Ohba Y., and Taniguchi T. DAI (DLM-1/ZBP1) is a cytosolic DNA sensor and an activator of innate immune response. Nature 448 (2007) 501-505
63. Yang Y.G., Lindahl T., and Barnes D.E. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131 (2007) 873-886
64. Gasser S., Orsulic S., Brown E.J., and Raulet D.H. The DNA damage pathway regulates innate immune system ligands of the NKG2D receptor. Nature 436 (2005) 1186-1190
65. Coscoy L., and Raulet D.H. DNA mismanagement leads to immune system oversight. Cell 131 (2007) 836-838
66. Akwa Y., Hassett D.E., Eloranta M.L., Sandberg K., Masliah E., Powell H., Whitton J.L., Bloom F.E., and Campbell I.L. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J. Immunol. 161 (1998) 5016-5026
67. Crack P.J., and Bray P.J. Toll-like receptors in the brain and their potential roles in neuropathology. Immunol. Cell Biol. 85 (2007) 476-480
68. Campbell I.L., Krucker T., Steffensen S., Akwa Y., Powell H.C., Lane T., Carr D.J., Gold L.H., Henriksen S.J., and Siggins G.R. Structural and functional neuropathology in transgenic mice with CNS expression of IFN-alpha. Brain Res. 835 (1999) 46-61
69. Meira L.B., Graham Jr. J.M., Greenberg C.R., Busch D.B., Doughty A.T., Ziffer D.W., Coleman D.M., Savre-Train I., and Friedberg E.C. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am. J. Hum. Genet. 66 (2000) 1221-1228
70. Lanzi G., D'Arrigo S., Drumbl G., Uggetti C., and Fazzi E. Aicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis. Funct. Neurol. 18 (2003) 71-75
71. Graham Jr. J.M., Anyane-Yeboa K., Raams A., Appeldoorn E., Kleijer W.J., Garritsen V.H., Busch D., Edersheim T.G., and Jaspers N.G. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am. J. Hum. Genet. 69 (2001) 291-300
72. Hamel B.C., Raams A., Schuitema-Dijkstra A.R., Simons P., van der Burgt I., Jaspers N.G., and Kleijer W.J. Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J. Med. Genet. 33 (1996) 607-610
73. Jaspers N.G., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H., and Vermeulen W. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am. J. Hum. Genet. 80 (2007) 457-466
74. Rapin I., Weidenheim K., Lindenbaum Y., Rosenbaum P., Merchant S.N., Krishna S., and Dickson D.W. Cockayne syndrome in adults: review with clinical and pathologic study of a new case. J. Child Neurol. 21 (2006) 991-1006
75. Newman J.C., Bailey A.D., and Weiner A.M. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. Proc. Natl. Acad. Sci. U.S.A. 103 (2006) 9613-9618
76. Hayashi M., Itoh M., Araki S., Kumada S., Shioda K., Tamagawa K., Mizutani T., Morimatsu Y., Minagawa M., and Oda M. Oxidative stress and disturbed glutamate transport in hereditary nucleotide repair disorders. J. Neuropathol. Exp. Neurol. 60 (2001) 350-356
77. Cline S.D., Riggins J.N., Tornaletti S., Marnett L.J., and Hanawalt P.C. Malondialdehyde adducts in DNA arrest transcription by T7 RNA polymerase and mammalian RNA polymerase II. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 7275-7280
78. Kyng K.J., May A., Brosh Jr. R.M., Cheng W.H., Chen C., Becker K.G., and Bohr V.A. The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells. Oncogene 22 (2003) 1135-1149
79. Proietti-De-Santis L., Drane P., and Egly J.M. Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. EMBO J. 25 (2006) 1915-1923
80. Laposa R.R., Huang E.J., and Cleaver J.E. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 1389-1394
81. Nouspikel T. DNA repair in differentiated cells: some new answers to old questions. Neuroscience 145 (2007) 1213-1221
82. Nouspikel T.P., Hyka-Nouspikel N., and Hanawalt P.C. Transcription domain-associated repair in human cells. Mol. Cell Biol. 26 (2006) 8722-8730
83. Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G., Kurimasa A., Oshimura M., Ichihashi M., and Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 15410-15415
84. Spivak G., Itoh T., Matsunaga T., Nikaido O., Hanawalt P., and Yamaizumi M. Ultraviolet-sensitive syndrome cells are defective in transcription-coupled repair of cyclobutane pyrimidine dimers. DNA Repair (Amst.) 1 (2002) 629-643
85. Laugel V., Dalloz C., Stary A., Cormier-Daire V., Desguerre I., Renouil M., Fourmaintraux A., Velez-Cruz R., Egly J.M., Sarasin A., and Dollfus H. Deletion of 5′-sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome. Eur. J. Hum. Genet. 16 (2008) 320-327
86. S. Hashimoto, T. Suga, E. Kudo, H. Ihn, M. Uchino, S. Tateishi, Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene, J. Invest. Dermatol. (2008) Jan 10; [Epub ahead of print] PMID: 18185538.
87. Maser R.S., Zinkel R., and Petrini J.H. An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet. 27 (2001) 417-421
88. Spivak G., and Hanawalt P.C. 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 (2006) 13-22
89. Frosina G. The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. Free Radic. Biol. Med. 43 (2007) 165-177
90. Janson C., McPhee S., Bilaniuk L., Haselgrove J., Testaiuti M., Freese A., Wang D.J., Shera D., Hurh P., Rupin J., Saslow E., Goldfarb O., Goldberg M., Larijani G., Sharrar W., Liouterman L., Camp A., Kolodny E., Samulski J., and Leone P. Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain. Hum. Gene Ther. 13 (2002) 1391-1412
91. Crystal R.G., Sondhi D., Hackett N.R., Kaminsky S.M., Worgall S., Stieg P., Souweidane M., Hosain S., Heier L., Ballon D., Dinner M., Wisniewski K., Kaplitt M., Greenwald B.M., Howell J.D., Strybing K., Dyke J., and Voss H. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Hum. Gene Ther. 15 (2004) 1131-1154
92. Barlow C., Hirotsune S., Paylor R., Liyanage M., Eckhaus M., Collins F., Shiloh Y., Crawley J.N., Ried T., Tagle D., and Wynshaw-Boris A. Atm-deficient mice: a paradigm of ataxia telangiectasia. Cell 86 (1996) 159-171
93. Gueven N., Luff J., Peng C., Hosokawa K., Bottle S.E., and Lavin M.F. Dramatic extension of tumor latency and correction of neurobehavioral phenotype in Atm-mutant mice with a nitroxide antioxidant. Free Radic. Biol. Med. 41 (2006) 992-1000
94. Lavin M.F., Gueven N., Bottle S., and Gatti R.A. Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br. Med. Bull. 81-82 (2007) 129-147
95. Kanzler H., Barrat F.J., Hessel E.M., and Coffman R.L. Therapeutic targeting of innate immunity with Toll-like receptor agonists and antagonists. Nat. Med. 13 (2007) 552-559
96. Ravizza T., Gagliardi B., Noe F., Boer K., Aronica E., and Vezzani A. Innate and adaptive immunity during epileptogenesis and spontaneous seizures: evidence from experimental models and human temporal lobe epilepsy. Neurobiol. Dis. 29 (2008) 142-160
97. Mosley R.L., Benner E.J., Kadiu I., Thomas M., Boska M.D., Hasan K., Laurie C., and Gendelman H.E. Neuroinflammation, oxidative stress and the pathogenesis of Parkinson's disease. Clin. Neurosci. Res. 6 (2006) 261-281
98. C. Infante-Duarte, S. Waiczies, J. Wuerfel, F. Zipp, New developments in understanding and treating neuroinflammation, J. Mol. Med. (2008) Jan 15; [Epub ahead of print] PMID: 18196212.
99. Frappart P.O., and McKinnon P.J. BRCA2 function and the central nervous system. Cell Cycle 6 (2007) 2453-2457
100. Lee Y., and McKinnon P.J. Responding to DNA double strand breaks in the nervous system. Neuroscience 145 (2007) 1365-1374