메뉴 건너뛰기




Volumn 5, Issue 8, 2004, Pages 772-776

ATM and ataxia telangiectasia. Second in molecular medicine review series

Author keywords

Ataxia telangiectasia; ATM; DNA damage; Neurodegeneration

Indexed keywords

ATM PROTEIN; DOUBLE STRANDED DNA; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE;

EID: 4444339751     PISSN: 1469221X     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.embor.7400210     Document Type: Review
Times cited : (301)

References (59)
  • 1
    • 3242881313 scopus 로고    scopus 로고
    • The DNA double-strand break response in the nervous system
    • in press
    • Abner CW, McKinnon PJ (2004) The DNA double-strand break response in the nervous system. DNA Repair (Amst) (in press)
    • (2004) DNA Repair (Amst.)
    • Abner, C.W.1    McKinnon, P.J.2
  • 2
    • 9144264836 scopus 로고    scopus 로고
    • ATM haplotypes and cellular response to DNA damage: Association with breast cancer risk and clinical radiosensitivity
    • Angele S et al (2003) ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity. Cancer Res 63: 8717-8725
    • (2003) Cancer Res. , vol.63 , pp. 8717-8725
    • Angele, S.1
  • 3
    • 1542515336 scopus 로고    scopus 로고
    • Tumour-suppressor function in the nervous system
    • Baker SJ, McKinnon PJ (2004) Tumour-suppressor function in the nervous system. Nat Rev Cancer 4: 184-196
    • (2004) Nat. Rev. Cancer , vol.4 , pp. 184-196
    • Baker, S.J.1    McKinnon, P.J.2
  • 4
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist CJ, Kastan MB (2003) DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 421: 499-506
    • (2003) Nature , vol.421 , pp. 499-506
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 5
    • 0030713080 scopus 로고    scopus 로고
    • Partial rescue ofthe prophase I defects of Atm-deficient mice by p53 and p21 null alleles
    • Barlow C, Liyanage M, Moens PB, Deng CX, Ried T, Wynshaw-Boris A (1997) Partial rescue ofthe prophase I defects of Atm-deficient mice by p53 and p21 null alleles. Nat Genet 17: 462-466
    • (1997) Nat. Genet. , vol.17 , pp. 462-466
    • Barlow, C.1    Liyanage, M.2    Moens, P.B.3    Deng, C.X.4    Ried, T.5    Wynshaw-Boris, A.6
  • 7
    • 0032585526 scopus 로고    scopus 로고
    • Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice
    • Barnes DE, Stamp G, Rosewell I, Denzel A, Lindahl T (1998) Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice. Curr Biol 8: 1395-1398
    • (1998) Curr. Biol. , vol.8 , pp. 1395-1398
    • Barnes, D.E.1    Stamp, G.2    Rosewell, I.3    Denzel, A.4    Lindahl, T.5
  • 8
    • 2442660386 scopus 로고    scopus 로고
    • Radiation-induced apoptosis in developing mouse retina exhibits dose-dependent requirement for ATM phosphorylation of p53
    • Borges HL, Chao C, Xu Y, Linden R, Wang JY (2004) Radiation-induced apoptosis in developing mouse retina exhibits dose-dependent requirement for ATM phosphorylation of p53. Cell Death Differ 11: 494-502
    • (2004) Cell Death Differ. , vol.11 , pp. 494-502
    • Borges, H.L.1    Chao, C.2    Xu, Y.3    Linden, R.4    Wang, J.Y.5
  • 9
    • 0034946243 scopus 로고    scopus 로고
    • Ataxia telangiectasia gene mutations in leukaemia and lymphoma
    • Boultwood J (2001) Ataxia telangiectasia gene mutations in leukaemia and lymphoma. J Clin Pathol 54: 512-516
    • (2001) J. Clin. Pathol. , vol.54 , pp. 512-516
    • Boultwood, J.1
  • 10
    • 0037428228 scopus 로고    scopus 로고
    • DNA single-strand break repair and spinocerebellar ataxia
    • Caldecott KW (2003) DNA single-strand break repair and spinocerebellar ataxia. Cell 112: 7-10
    • (2003) Cell , vol.112 , pp. 7-10
    • Caldecott, K.W.1
  • 11
    • 0032076248 scopus 로고    scopus 로고
    • The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response
    • Carney JP, Maser RS, Olivares H, Davis EM, Le Beau M, Yates JR III, Hays L, Morgan WF, Petrini JH (1998) The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93: 477-486
    • (1998) Cell , vol.93 , pp. 477-486
    • Carney, J.P.1    Maser, R.S.2    Olivares, H.3    Davis, E.M.4    Le Beau, M.5    Yates III, J.R.6    Hays, L.7    Morgan, W.F.8    Petrini, J.H.9
  • 14
    • 0036276388 scopus 로고    scopus 로고
    • The Mre11 complex: At the crossroads of DNA repair and checkpoint signalling
    • D'Amours D, Jackson SP (2002) The Mre11 complex: at the crossroads of DNA repair and checkpoint signalling. Nat Rev Mol Cell Biol 3: 317-327
    • (2002) Nat. Rev. Mol. Cell Biol. , vol.3 , pp. 317-327
    • D'Amours, D.1    Jackson, S.P.2
  • 15
    • 0034790947 scopus 로고    scopus 로고
    • Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
    • Date H et al(2001) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 29: 184-188
    • (2001) Nat. Genet. , vol.29 , pp. 184-188
    • Date, H.1
  • 18
    • 0032417640 scopus 로고    scopus 로고
    • A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis
    • Gao Y et al (1998) A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis. Cell 95: 891-902
    • (1998) Cell , vol.95 , pp. 891-902
    • Gao, Y.1
  • 19
    • 17744386131 scopus 로고    scopus 로고
    • The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta stone
    • Gatti RA et al (2001) The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta stone. Clin Rev Allergy Immunol 20: 87-108
    • (2001) Clin. Rev. Allergy Immunol. , vol.20 , pp. 87-108
    • Gatti, R.A.1
  • 20
    • 2542612903 scopus 로고    scopus 로고
    • Aprataxin, a novel protein that protects against genotoxic stress
    • Gueven N et al (2004) Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet 13: 1081-1093
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1081-1093
    • Gueven, N.1
  • 22
    • 0032524070 scopus 로고    scopus 로고
    • Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system
    • Herzog KH, Chong MJ, Kapsetaki M, Morgan JI, McKinnon PJ (1998) Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system. Science 280: 1089-1091
    • (1998) Science , vol.280 , pp. 1089-1091
    • Herzog, K.H.1    Chong, M.J.2    Kapsetaki, M.3    Morgan, J.I.4    McKinnon, P.J.5
  • 23
    • 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
  • 24
    • 0035266308 scopus 로고    scopus 로고
    • Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice
    • Kamsler A, Daily D, Hochman A, Stern N, Shiloh Y, Rotman G, Barzilai A (2001) Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice. Cancer Res 61: 1849-1854
    • (2001) Cancer Res. , vol.61 , pp. 1849-1854
    • Kamsler, A.1    Daily, D.2    Hochman, A.3    Stern, N.4    Shiloh, Y.5    Rotman, G.6    Barzilai, A.7
  • 26
    • 2942687831 scopus 로고    scopus 로고
    • Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway
    • Kitagawa R, Bakkenist CJ, McKinnon PJ, Kastan MB (2004) Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway. Genes Dev 18: 1423-1438
    • (2004) Genes Dev. , vol.18 , pp. 1423-1438
    • Kitagawa, R.1    Bakkenist, C.J.2    McKinnon, P.J.3    Kastan, M.B.4
  • 28
    • 1842431822 scopus 로고    scopus 로고
    • Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex
    • Lee JH, Paull TT (2004) Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex. Science 304: 93-96
    • (2004) Science , vol.304 , pp. 93-96
    • Lee, J.H.1    Paull, T.T.2
  • 29
    • 0034668060 scopus 로고    scopus 로고
    • Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm
    • Lee Y, Barnes DE, Lindahl T, McKinnon PJ (2000) Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm. Genes Dev 14: 2576-2580
    • (2000) Genes Dev. , vol.14 , pp. 2576-2580
    • Lee, Y.1    Barnes, D.E.2    Lindahl, T.3    McKinnon, P.J.4
  • 30
    • 0035448927 scopus 로고    scopus 로고
    • Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status
    • Lee Y, Chong MJ, McKinnon PJ (2001) Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status. J Neurosci 21: 6687-6693
    • (2001) J. Neurosci. , vol.21 , pp. 6687-6693
    • Lee, Y.1    Chong, M.J.2    McKinnon, P.J.3
  • 32
    • 0032885176 scopus 로고    scopus 로고
    • Ocular motor abnormalities in ataxia telangiectasia
    • Lewis RF, Lederman HM, Crawford TO (1999) Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 46: 287-295
    • (1999) Ann. Neurol. , vol.46 , pp. 287-295
    • Lewis, R.F.1    Lederman, H.M.2    Crawford, T.O.3
  • 33
    • 0033563099 scopus 로고    scopus 로고
    • Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphoma
    • Liao MJ, Van Dyke T (1999) Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphoma. Genes Dev 13: 1246-1250
    • (1999) Genes Dev. , vol.13 , pp. 1246-1250
    • Liao, M.J.1    Van Dyke, T.2
  • 34
    • 0034785531 scopus 로고    scopus 로고
    • The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
    • Moreira MC et al (2001) The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29: 189-193
    • (2001) Nat. Genet. , vol.29 , pp. 189-193
    • Moreira, M.C.1
  • 35
    • 0842287638 scopus 로고    scopus 로고
    • DNA damage tumor suppressor genes and genomic instability
    • Motoyama N, Naka K (2004) DNA damage tumor suppressor genes and genomic instability. Curr Opin Genet Dev 14: 11-16
    • (2004) Curr. Opin. Genet. Dev. , vol.14 , pp. 11-16
    • Motoyama, N.1    Naka, K.2
  • 36
    • 0029021663 scopus 로고
    • Discovery of AT gene sparks biomedical research bonanza
    • Nowak R (1995) Discovery of AT gene sparks biomedical research bonanza. Science 268: 1700-1701
    • (1995) Science , vol.268 , pp. 1700-1701
    • Nowak, R.1
  • 40
    • 0142011461 scopus 로고    scopus 로고
    • The cellular response to DNA double-strand breaks: Defining the sensors and mediators
    • Petrini JH, Stracker TH (2003) The cellular response to DNA double-strand breaks: defining the sensors and mediators. Trends Cell Biol 13: 458-462
    • (2003) Trends Cell Biol. , vol.13 , pp. 458-462
    • Petrini, J.H.1    Stracker, T.H.2
  • 41
    • 0035011079 scopus 로고    scopus 로고
    • Superoxide stress identifies neurons at risk in a model of ataxia-telangiectasia
    • Quick KL, Dugan LL (2001) Superoxide stress identifies neurons at risk in a model of ataxia-telangiectasia. Ann Neurol 49: 627-635
    • (2001) Ann. Neurol. , vol.49 , pp. 627-635
    • Quick, K.L.1    Dugan, L.L.2
  • 42
    • 0034283878 scopus 로고    scopus 로고
    • Linking DNA damage and neurodegeneration
    • Rolig RL, McKinnon PJ (2000) Linking DNA damage and neurodegeneration. Trends Neurosci 23: 417-424
    • (2000) Trends Neurosci. , vol.23 , pp. 417-424
    • Rolig, R.L.1    McKinnon, P.J.2
  • 43
    • 0032952338 scopus 로고    scopus 로고
    • Characterization of ATM gene mutations in 66 ataxia telangiectasia families
    • Sandoval N et al (1999) Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet 8: 69-79
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 69-79
    • Sandoval, N.1
  • 44
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky K et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1
  • 46
    • 0001183734 scopus 로고
    • Ataxia-telangiectasia
    • (eds Vinken P, Bruyn G, Klawans H) New York, USA: Elsevier
    • Sedgwick RP, Boder E (1991) Ataxia-telangiectasia. In Handbook of Clinical Neurology Vol 60 (eds Vinken P, Bruyn G, Klawans H) 347-423. New York, USA: Elsevier.
    • (1991) Handbook of Clinical Neurology , vol.60 , pp. 347-423
    • Sedgwick, R.P.1    Boder, E.2
  • 47
    • 0035853127 scopus 로고    scopus 로고
    • Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development
    • Sekiguchi J et al (2001) Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development. Proc Natl Acad Sci USA 98: 3243-3248
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 3243-3248
    • Sekiguchi, J.1
  • 48
    • 0031466618 scopus 로고    scopus 로고
    • Ataxia-telangiectasia and the Nijmegen breakage syndrome: Related disorders but genes apart
    • Shiloh Y (1997) Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart. Annu Rev Genet 31: 635-662
    • (1997) Annu. Rev. Genet. , vol.31 , pp. 635-662
    • Shiloh, Y.1
  • 49
    • 0037365789 scopus 로고    scopus 로고
    • ATM and related protein kinases: Safeguarding genome integrity
    • Shiloh Y (2003) ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 3: 155-168
    • (2003) Nat. Rev. Cancer , vol.3 , pp. 155-168
    • Shiloh, Y.1
  • 50
    • 0036727417 scopus 로고    scopus 로고
    • Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
    • Spring K et al (2002) Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Nat Genet 32: 185-190
    • (2002) Nat. Genet. , vol.32 , pp. 185-190
    • Spring, K.1
  • 52
    • 0033544724 scopus 로고    scopus 로고
    • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
    • Stewart GS et al (1999) The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587
    • (1999) Cell , vol.99 , pp. 577-587
    • Stewart, G.S.1
  • 53
    • 0035839431 scopus 로고    scopus 로고
    • Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins 137 and 7271T→G mutations, showing a less severe phenotype
    • Stewart GS, Last JI, Stankovic T, Haites N, Kidd AM, Byrd PJ, Taylor AM (2001) Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins 137 and 7271T→G mutations, showing a less severe phenotype. J Biol Chem 276: 30133-30141
    • (2001) J. Biol. Chem. , vol.276 , pp. 30133-30141
    • Stewart, G.S.1    Last, J.I.2    Stankovic, T.3    Haites, N.4    Kidd, A.M.5    Byrd, P.J.6    Taylor, A.M.7
  • 55
    • 0038745419 scopus 로고    scopus 로고
    • Contributions of ATM mutations to familial breast and ovarian cancer
    • Thorstenson YR et al (2003) Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res 63: 3325-3333
    • (2003) Cancer Res. , vol.63 , pp. 3325-3333
    • Thorstenson, Y.R.1
  • 57
    • 0142186242 scopus 로고    scopus 로고
    • The MRN complex: Coordinating and mediating the response to broken chromosomes
    • van den Bosch M, Bree RT, Lowndes NF (2003)The MRN complex: coordinating and mediating the response to broken chromosomes. EMBO Rep 4: 844-849
    • (2003) EMBO Rep. , vol.4 , pp. 844-849
    • van den Bosch, M.1    Bree, R.T.2    Lowndes, N.F.3
  • 58
    • 0035289717 scopus 로고    scopus 로고
    • Chromosomal stability and the DNA double-stranded break connection
    • van Gent DC, Hoeijmakers JH, Kanaar R (2001) Chromosomal stability and the DNA double-stranded break connection. Nat Rev Genet 2: 196-206
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 196-206
    • van Gent, D.C.1    Hoeijmakers, J.H.2    Kanaar, R.3
  • 59
    • 0032076190 scopus 로고    scopus 로고
    • Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
    • Varon R et al (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476
    • (1998) Cell , vol.93 , pp. 467-476
    • Varon, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.