메뉴 건너뛰기




Volumn 121, Issue 20, 2013, Pages 4036-4045

Pathogenesis of ataxia-telangiectasia: The next generation of ATM functions

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; FREE RADICAL; GLUCOSE TRANSPORTER; INSULIN; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; MEMBRANE RECEPTOR; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

EID: 84878527709     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-09-456897     Document Type: Review
Times cited : (166)

References (129)
  • 1
    • 78651043982 scopus 로고    scopus 로고
    • Ataxia-telangiectasia: A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection
    • l958
    • Boder E, Sedgwick RP. Ataxia-telangiectasia: a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. l958; 21(4):526-554.
    • Pediatrics , vol.21 , Issue.4 , pp. 526-554
    • Boder, E.1    Sedgwick, R.P.2
  • 2
    • 0015098830 scopus 로고
    • Occurrence of malignancy in immunodeficiency diseases. A literature review
    • Gatti RA, Good RA. Occurrence of malignancy in immunodeficiency diseases. A literature review. Cancer. 1971;28(1):89-98.
    • (1971) Cancer , vol.28 , Issue.1 , pp. 89-98
    • Gatti, R.A.1    Good, R.A.2
  • 4
    • 0019955410 scopus 로고
    • Ataxia-telangiectasia: A multiparameter analysis of eight families
    • Gatti RA, Bick M, Tam CF, et al. Ataxia-Telangiectasia: a multiparameter analysis of eight families. Clin Immunol Immunopathol. 1982;23(2):501-516.
    • (1982) Clin Immunol Immunopathol , vol.23 , Issue.2 , pp. 501-516
    • Gatti, R.A.1    Bick, M.2    Tam, C.F.3
  • 5
    • 0030933152 scopus 로고    scopus 로고
    • The genetic defect in ataxia-telangiectasia
    • Lavin MF, Shiloh Y. The genetic defect in ataxia-telangiectasia. Annu Rev Immunol. 1997;15: 177-202.
    • (1997) Annu Rev Immunol , vol.15 , pp. 177-202
    • Lavin, M.F.1    Shiloh, Y.2
  • 6
    • 0002402752 scopus 로고    scopus 로고
    • Ataxia-telangiectasia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. , 8th ed. New York: McGraw-Hill
    • Gatti RA. Ataxia-Telangiectasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001:705-732
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 705-732
    • Gatti, R.A.1
  • 7
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst). 2004; 3(8-9):1187-1196.
    • (2004) DNA Repair (Amst) , vol.3 , Issue.8-9 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 8
    • 2642528031 scopus 로고    scopus 로고
    • DNA damage-induced activation of atm and atm-dependent signaling pathways
    • Kurz EU, Lees-Miller SP. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair (Amst). 2004;3(8-9): 889-900.
    • (2004) DNA Repair (Amst) , vol.3 , Issue.8-9 , pp. 889-900
    • Kurz, E.U.1    Lees-Miller, S.P.2
  • 10
    • 0020691413 scopus 로고
    • Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells
    • Cohen MM, Simpson SJ. Increased clastogenicity and decreased inhibition of DNA synthesis by neocarzinostatin and tallysomycin in ataxia telangiectasia lymphoid cells. Mutat Res. 1983;112(2):119-128.
    • (1983) Mutat Res , vol.112 , Issue.2 , pp. 119-128
    • Cohen, M.M.1    Simpson, S.J.2
  • 11
    • 0028006359 scopus 로고
    • Reactive oxygen species, chromosome mutation, and cancer: Possible role of clastogenic factors in carcinogenesis
    • Emerit I. Reactive oxygen species, chromosome mutation, and cancer: possible role of clastogenic factors in carcinogenesis. Free Radic Biol Med. 1994;16(1):99-109.
    • (1994) Free Radic Biol Med , vol.16 , Issue.1 , pp. 99-109
    • Emerit, I.1
  • 12
    • 0018832231 scopus 로고
    • High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia
    • Aurias A, Dutrillaux B, Buriot D, Lejeune J. High frequencies of inversions and translocations of chromosomes 7 and 14 in ataxia telangiectasia. Mutat Res. 1980;69(2):369-374.
    • (1980) Mutat Res , vol.69 , Issue.2 , pp. 369-374
    • Aurias, A.1    Dutrillaux, B.2    Buriot, D.3    Lejeune, J.4
  • 13
    • 0022337216 scopus 로고
    • Translocations involving chromosomes 2p and 22q in ataxia-telangiectasia
    • Gatti RA, Aurias A, Griscelli C, Sparkes RS. Translocations involving chromosomes 2p and 22q in ataxia-telangiectasia. Dis Markers. 1985; 3:169-175.
    • (1985) Dis Markers , vol.3 , pp. 169-175
    • Gatti, R.A.1    Aurias, A.2    Griscelli, C.3    Sparkes, R.S.4
  • 14
    • 30744445418 scopus 로고    scopus 로고
    • H2AX prevents DNA breaks from progressing to chromosome breaks and translocations
    • Franco S, Gostissa M, Zha S, et al. H2AX prevents DNA breaks from progressing to chromosome breaks and translocations. Mol Cell. 2006;21(2):201-214.
    • (2006) Mol Cell , vol.21 , Issue.2 , pp. 201-214
    • Franco, S.1    Gostissa, M.2    Zha, S.3
  • 15
    • 34447551681 scopus 로고    scopus 로고
    • Roles of atm and nbs1 in chromatin structure modulation and DNA double-strand break repair
    • Berkovich E, Monnat RJ Jr, Kastan MB. Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair. Nat Cell Biol. 2007;9(6):683-690.
    • (2007) Nat Cell Biol , vol.9 , Issue.6 , pp. 683-690
    • Berkovich, E.1    Monnat, R.J.2    Kastan, M.B.3
  • 17
    • 0018259929 scopus 로고
    • Identification of ataxia telangiectasia heterozygotes, a cancer prone population
    • Chen PC, Lavin MF, Kidson C, Moss D. Identification of ataxia telangiectasia heterozygotes, a cancer prone population. Nature. 1978;274(5670):484-486.
    • (1978) Nature , vol.274 , Issue.5670 , pp. 484-486
    • Chen, P.C.1    Lavin, M.F.2    Kidson, C.3    Moss, D.4
  • 18
    • 0035449355 scopus 로고    scopus 로고
    • Cell cycle checkpoint signaling through the atm and atr kinases
    • Abraham RT. Cell cycle checkpoint signaling through the ATM and ATR kinases. Genes Dev. 2001;15(17):2177-2196.
    • (2001) Genes Dev , vol.15 , Issue.17 , pp. 2177-2196
    • Abraham, R.T.1
  • 19
    • 0024205754 scopus 로고
    • Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
    • Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. 1988;336(6199):577-580.
    • (1988) Nature , vol.336 , Issue.6199 , pp. 577-580
    • Gatti, R.A.1    Berkel, I.2    Boder, E.3
  • 20
    • 0025115548 scopus 로고
    • Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region
    • Sanal O, Wei S, Foroud T, et al. Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. Am J Hum Genet. 1990;47(5):860-866.
    • (1990) Am J Hum Genet , vol.47 , Issue.5 , pp. 860-866
    • Sanal, O.1    Wei, S.2    Foroud, T.3
  • 21
    • 0025375914 scopus 로고
    • Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage
    • McConville CM, Woods CG, Farrall M, Metcalfe JA, Taylor AM. Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage. Hum Genet. 1990;85(2):215-220.
    • (1990) Hum Genet , vol.85 , Issue.2 , pp. 215-220
    • McConville, C.M.1    Woods, C.G.2    Farrall, M.3    Metcalfe, J.A.4    Taylor, A.M.5
  • 22
    • 0026023344 scopus 로고
    • The ATC (ataxia-telangiectasia complementation group c) locus localizes to 11q22-q23
    • Ziv Y, Rotman G, Frydman M, et al. The ATC (ataxia-telangiectasia complementation group C) locus localizes to 11q22-q23. Genomics. 1991; 9(2):373-375.
    • (1991) Genomics , vol.9 , Issue.2 , pp. 373-375
    • Ziv, Y.1    Rotman, G.2    Frydman, M.3
  • 23
    • 0029029548 scopus 로고
    • Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in costa rican families
    • Uhrhammer N, Lange E, Porras O, et al. Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families. Am J Hum Genet. 1995; 57(1):103-111.
    • (1995) Am J Hum Genet , vol.57 , Issue.1 , pp. 103-111
    • Uhrhammer, N.1    Lange, E.2    Porras, O.3
  • 24
    • 0029014436 scopus 로고
    • Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium
    • Lange E, Borresen A-L, Chen X, et al. Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet. 1995;57(1):112-119.
    • (1995) Am J Hum Genet , vol.57 , Issue.1 , pp. 112-119
    • Lange, E.1    Borresen, A.-L.2    Chen, X.3
  • 25
    • 17344370225 scopus 로고    scopus 로고
    • Genotype-phenotype relationships in ataxia-telangiectasia and variants
    • Gilad S, Chessa L, Khosravi R, et al. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet. 1998;62(3): 551-561.
    • (1998) Am J Hum Genet , vol.62 , Issue.3 , pp. 551-561
    • Gilad, S.1    Chessa, L.2    Khosravi, R.3
  • 26
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • Savitsky K, Bar-Shira A, Gilad S, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science. 1995;268(5218): 1749-1753.
    • (1995) Science , vol.268 , Issue.5218 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3
  • 27
    • 0029127643 scopus 로고
    • Atm-related genes: What do they tell us about functions of the human gene?
    • Zakian VA. ATM-related genes: what do they tell us about functions of the human gene? Cell. 1995;82(5):685-687.
    • (1995) Cell , vol.82 , Issue.5 , pp. 685-687
    • Zakian, V.A.1
  • 28
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates atm through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature. 2003;421(6922):499-506.
    • (2003) Nature , vol.421 , Issue.6922 , pp. 499-506
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 29
    • 0642317018 scopus 로고    scopus 로고
    • The role of atm and atr in DNA damage-induced cell cycle control
    • Goodarzi AA, Block WD, Lees-Miller SP. The role of ATM and ATR in DNA damage-induced cell cycle control. Prog Cell Cycle Res. 2003;5: 393-411.
    • (2003) Prog Cell Cycle Res , vol.5 , pp. 393-411
    • Goodarzi, A.A.1    Block, W.D.2    Lees-Miller, S.P.3
  • 30
    • 36949013395 scopus 로고    scopus 로고
    • Atm and the mre11 complex combine to recognize and signal DNA double-strand breaks
    • Lavin MF. ATM and the Mre11 complex combine to recognize and signal DNA double-strand breaks. Oncogene. 2007;26(56):7749-7758.
    • (2007) Oncogene , vol.26 , Issue.56 , pp. 7749-7758
    • Lavin, M.F.1
  • 31
    • 78649445307 scopus 로고    scopus 로고
    • Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks
    • Williams GJ, Lees-Miller SP, Tainer JA. Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks. DNA Repair (Amst). 2010;9(12):1299-1306.
    • (2010) DNA Repair (Amst) , vol.9 , Issue.12 , pp. 1299-1306
    • Williams, G.J.1    Lees-Miller, S.P.2    Tainer, J.A.3
  • 32
    • 30744465308 scopus 로고    scopus 로고
    • Mdc1 maintains genomic stability by participating in the amplification of atm-dependent DNA damage signals
    • Lou Z, Minter-Dykhouse K, Franco S, et al. MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals. Mol Cell. 2006; 21(2):187-200.
    • (2006) Mol Cell , vol.21 , Issue.2 , pp. 187-200
    • Lou, Z.1    Minter-Dykhouse, K.2    Franco, S.3
  • 33
    • 76349099135 scopus 로고    scopus 로고
    • 53BP1 promotes ATM activity through direct interactions with the mrn complex
    • Lee JH, Goodarzi AA, Jeggo PA, Paull TT. 53BP1 promotes ATM activity through direct interactions with the MRN complex. EMBO J. 2010;29(3):574-585.
    • (2010) EMBO J , vol.29 , Issue.3 , pp. 574-585
    • Lee, J.H.1    Goodarzi, A.A.2    Jeggo, P.A.3    Paull, T.T.4
  • 35
    • 10044225999 scopus 로고    scopus 로고
    • Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A
    • Goodarzi AA, Jonnalagadda JC, Douglas P, et al. Autophosphorylation of ataxia-telangiectasia mutated is regulated by protein phosphatase 2A. EMBO J. 2004;23(22): 4451-4461.
    • (2004) EMBO J , vol.23 , Issue.22 , pp. 4451-4461
    • Goodarzi, A.A.1    Jonnalagadda, J.C.2    Douglas, P.3
  • 36
    • 25444527426 scopus 로고    scopus 로고
    • Reversal of the ATM/ATR-mediated DNA damage response by the oncogenic phosphatase PPM1D
    • Lu X, Nguyen TA, Donehower LA. Reversal of the ATM/ATR-mediated DNA damage response by the oncogenic phosphatase PPM1D. Cell Cycle. 2005;4(8):1060-1064.
    • (2005) Cell Cycle , vol.4 , Issue.8 , pp. 1060-1064
    • Lu, X.1    Nguyen, T.A.2    Donehower, L.A.3
  • 37
    • 33748150967 scopus 로고    scopus 로고
    • Wip1 phosphatase modulates atm-dependent signaling pathways
    • Shreeram S, Demidov ON, Hee WK, et al. Wip1 phosphatase modulates ATM-dependent signaling pathways. Mol Cell. 2006;23(5): 757-764.
    • (2006) Mol Cell , vol.23 , Issue.5 , pp. 757-764
    • Shreeram, S.1    Demidov, O.N.2    Hee, W.K.3
  • 38
    • 37549028411 scopus 로고    scopus 로고
    • DNA damage-induced acetylation of lysine 3016 of atm activates atm kinase activity
    • Sun Y, Xu Y, Roy K, Price BD. DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity. Mol Cell Biol. 2007;27(24):8502-8509.
    • (2007) Mol Cell Biol , vol.27 , Issue.24 , pp. 8502-8509
    • Sun, Y.1    Xu, Y.2    Roy, K.3    Price, B.D.4
  • 39
    • 0036500690 scopus 로고    scopus 로고
    • Smc1 is a downstream effector in the ATM/ NBS1 branch of the human S-phase checkpoint
    • Yazdi PT, Wang Y, Zhao S, Patel N, Lee EY, Qin J. SMC1 is a downstream effector in the ATM/ NBS1 branch of the human S-phase checkpoint. Genes Dev. 2002;16(5):571-582.
    • (2002) Genes Dev , vol.16 , Issue.5 , pp. 571-582
    • Yazdi, P.T.1    Wang, Y.2    Zhao, S.3    Patel, N.4    Lee, E.Y.5    Qin, J.6
  • 40
    • 0032555458 scopus 로고    scopus 로고
    • Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development
    • Oka A, Takashima S. Expression of the ataxia-telangiectasia gene (ATM) product in human cerebellar neurons during development. Neurosci Lett. 1998;252(3):195-198.
    • (1998) Neurosci Lett , vol.252 , Issue.3 , pp. 195-198
    • Oka, A.1    Takashima, S.2
  • 41
    • 12944316603 scopus 로고    scopus 로고
    • Atm is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation
    • Barlow C, Ribaut-Barassin C, Zwingman TA, et al. ATM is a cytoplasmic protein in mouse brain required to prevent lysosomal accumulation. Proc Natl Acad Sci USA. 2000; 97(2):871-876.
    • (2000) Proc Natl Acad Sci USA , vol.97 , Issue.2 , pp. 871-876
    • Barlow, C.1    Ribaut-Barassin, C.2    Zwingman, T.A.3
  • 42
    • 33845742491 scopus 로고    scopus 로고
    • Constitutive expression and cytoplasmic compartmentalization of ATM protein in differentiated human neuron-like SH-SY5Y cells
    • Boehrs JK, He J, Halaby MJ, Yang DQ. Constitutive expression and cytoplasmic compartmentalization of ATM protein in differentiated human neuron-like SH-SY5Y cells. J Neurochem. 2007;100(2):337-345.
    • (2007) J Neurochem , vol.100 , Issue.2 , pp. 337-345
    • Boehrs, J.K.1    He, J.2    Halaby, M.J.3    Yang, D.Q.4
  • 43
    • 0032544038 scopus 로고    scopus 로고
    • ATM binds to beta-adaptin in cytoplasmic vesicles
    • Lim DS, Kirsch DG, Canman CE, et al. ATM binds to beta-adaptin in cytoplasmic vesicles. Proc Natl Acad Sci USA. 1998;95(17): 10146-10151.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.17 , pp. 10146-10151
    • Lim, D.S.1    Kirsch, D.G.2    Canman, C.E.3
  • 44
    • 0033607810 scopus 로고    scopus 로고
    • Localization of a portion of extranuclear atm to peroxisomes
    • Watters D, Kedar P, Spring K, et al. Localization of a portion of extranuclear ATM to peroxisomes. J Biol Chem. 1999;274(48):34277-34282.
    • (1999) J Biol Chem , vol.274 , Issue.48 , pp. 34277-34282
    • Watters, D.1    Kedar, P.2    Spring, K.3
  • 45
    • 34548430918 scopus 로고    scopus 로고
    • Intrinsic mitochondrial dysfunction in atm-deficient lymphoblastoid cells
    • Ambrose M, Goldstine JV, Gatti RA. Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells. Hum Mol Genet. 2007; 16(18):2154-2164.
    • (2007) Hum Mol Genet , vol.16 , Issue.18 , pp. 2154-2164
    • Ambrose, M.1    Goldstine, J.V.2    Gatti, R.A.3
  • 46
    • 84856893251 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in ataxia-telangiectasia
    • Valentin-Vega YA, Maclean KH, Tait-Mulder J, et al. Mitochondrial dysfunction in ataxia-telangiectasia. Blood. 2012;119(6):1490-1500.
    • (2012) Blood , vol.119 , Issue.6 , pp. 1490-1500
    • Valentin-Vega, Y.A.1    Maclean, K.H.2    Tait-Mulder, J.3
  • 47
    • 4444268690 scopus 로고    scopus 로고
    • Mechanisms that regulate production of reactive oxygen species by cytochrome P450
    • Zangar RC, Davydov DR, Verma S. Mechanisms that regulate production of reactive oxygen species by cytochrome P450. Toxicol Appl Pharmacol. 2004;199(3):316-331.
    • (2004) Toxicol Appl Pharmacol , vol.199 , Issue.3 , pp. 316-331
    • Zangar, R.C.1    Davydov, D.R.2    Verma, S.3
  • 48
    • 79960286223 scopus 로고    scopus 로고
    • Signal transduction by reactive oxygen species
    • Finkel T. Signal transduction by reactive oxygen species. J Cell Biol. 2011;194(1):7-15.
    • (2011) J Cell Biol , vol.194 , Issue.1 , pp. 7-15
    • Finkel, T.1
  • 49
    • 0034306267 scopus 로고    scopus 로고
    • Mitochondria, oxygen free radicals, disease and ageing
    • Raha S, Robinson BH. Mitochondria, oxygen free radicals, disease and ageing. Trends Biochem Sci. 2000;25(10):502-508.
    • (2000) Trends Biochem Sci , vol.25 , Issue.10 , pp. 502-508
    • Raha, S.1    Robinson, B.H.2
  • 50
    • 0027324378 scopus 로고
    • Mutagenesis by 8-oxoguanine: An enemy within
    • Grollman AP, Moriya M. Mutagenesis by 8-oxoguanine: an enemy within. Trends Genet. 1993;9(7):246-249.
    • (1993) Trends Genet , vol.9 , Issue.7 , pp. 246-249
    • Grollman, A.P.1    Moriya, M.2
  • 51
    • 0344585940 scopus 로고    scopus 로고
    • The interacting pathways for prevention and repair of oxidative DNA damage
    • Slupphaug G, Kavli B, Krokan HE. The interacting pathways for prevention and repair of oxidative DNA damage. Mutat Res. 2003; 531(1-2):231-251.
    • (2003) Mutat Res , vol.531 , Issue.1-2 , pp. 231-251
    • Slupphaug, G.1    Kavli, B.2    Krokan, H.E.3
  • 52
    • 0025107807 scopus 로고
    • Response of fibroblast cultures from ataxia-telangiectasia patients to oxidative stress
    • Yi M, Rosin MP, Anderson CK. Response of fibroblast cultures from ataxia-telangiectasia patients to oxidative stress. Cancer Lett. 1990; 54(1-2):43-50.
    • (1990) Cancer Lett , vol.54 , Issue.1-2 , pp. 43-50
    • Yi, M.1    Rosin, M.P.2    Anderson, C.K.3
  • 53
    • 0028020158 scopus 로고
    • Response of fibroblast cultures from ataxia-telangiectasia patients to reactive oxygen species generated during inflammatory reactions
    • Ward AJ, Olive PL, Burr AH, Rosin MP. Response of fibroblast cultures from ataxia-telangiectasia patients to reactive oxygen species generated during inflammatory reactions. Environ Mol Mutagen. 1994;24(2): 103-111.
    • (1994) Environ Mol Mutagen , vol.24 , Issue.2 , pp. 103-111
    • Ward, A.J.1    Olive, P.L.2    Burr, A.H.3    Rosin, M.P.4
  • 54
    • 0030985116 scopus 로고    scopus 로고
    • The atm gene and protein: Possible roles in genome surveillance, checkpoint controls and cellular defence against oxidative stress
    • Rotman G, Shiloh Y. The ATM gene and protein: possible roles in genome surveillance, checkpoint controls and cellular defence against oxidative stress. Cancer Surv. 1997;29:285-304.
    • (1997) Cancer Surv , vol.29 , pp. 285-304
    • Rotman, G.1    Shiloh, Y.2
  • 57
    • 0037182751 scopus 로고    scopus 로고
    • Ubiquitination capabilities in response to neocarzinostatin and H(2)O(2) stress in cell lines from patients with ataxia-telangiectasia
    • Taylor A, Shang F, Nowell T, Galanty Y, Shiloh Y. Ubiquitination capabilities in response to neocarzinostatin and H(2)O(2) stress in cell lines from patients with ataxia-telangiectasia. Oncogene. 2002;21(28):4363-4373.
    • (2002) Oncogene , vol.21 , Issue.28 , pp. 4363-4373
    • Taylor, A.1    Shang, F.2    Nowell, T.3    Galanty, Y.4    Shiloh, Y.5
  • 58
    • 0028171182 scopus 로고
    • The p53-dependent G1 cell cycle checkpoint pathway and ataxia-telangiectasia
    • Canman CE, Wolff AC, Chen CY, Fornace AJ Jr, Kastan MB. The p53-dependent G1 cell cycle checkpoint pathway and ataxia-telangiectasia. Cancer Res. 1994;54(19):5054-5058.
    • (1994) Cancer Res , vol.54 , Issue.19 , pp. 5054-5058
    • Canman, C.E.1    Wolff, A.C.2    Chen, C.Y.3    Fornace, A.J.4    Kastan, M.B.5
  • 59
    • 0029061587 scopus 로고
    • Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I kappa B-alpha
    • Jung M, Zhang Y, Lee S, Dritschilo A. Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I kappa B-alpha. Science. 1995;268(5217):1619-1621.
    • (1995) Science , vol.268 , Issue.5217 , pp. 1619-1621
    • Jung, M.1    Zhang, Y.2    Lee, S.3    Dritschilo, A.4
  • 60
    • 0029829249 scopus 로고    scopus 로고
    • Defect in multiple cell cycle checkpoints in ataxia-telangiectasia postirradiation
    • Beamish H, Williams R, Chen P, Lavin MF. Defect in multiple cell cycle checkpoints in ataxia-telangiectasia postirradiation. J Biol Chem. 1996;271(34):20486-20493.
    • (1996) J Biol Chem , vol.271 , Issue.34 , pp. 20486-20493
    • Beamish, H.1    Williams, R.2    Chen, P.3    Lavin, M.F.4
  • 61
    • 0033578411 scopus 로고    scopus 로고
    • Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs
    • Barlow C, Dennery PA, Shigenaga MK, et al. Loss of the ataxia-telangiectasia gene product causes oxidative damage in target organs. Proc Natl Acad Sci USA. 1999;96(17):9915-9919.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.17 , pp. 9915-9919
    • Barlow, C.1    Dennery, P.A.2    Shigenaga, M.K.3
  • 62
    • 0023160233 scopus 로고
    • Imparied glutathione biosynthesis in cultured human ataxia-telangiectasia cells
    • Meredith MJ, Dodson ML. Imparied glutathione biosynthesis in cultured human ataxia-telangiectasia cells. Cancer Res. 1987;47(17): 4576-4581.
    • (1987) Cancer Res , vol.47 , Issue.17 , pp. 4576-4581
    • Meredith, M.J.1    Dodson, M.L.2
  • 65
    • 7244250309 scopus 로고    scopus 로고
    • Regulation of oxidative stress by atm is required for self-renewal of haematopoietic stem cells
    • Ito K, Hirao A, Arai F, et al. Regulation of oxidative stress by ATM is required for self-renewal of haematopoietic stem cells. Nature. 2004;431(7011):997-1002.
    • (2004) Nature , vol.431 , Issue.7011 , pp. 997-1002
    • Ito, K.1    Hirao, A.2    Arai, F.3
  • 67
    • 78649262870 scopus 로고    scopus 로고
    • The ZFHX3 (ATBF1) transcription factor induces pdgfrb, which activates atm in the cytoplasm to protect cerebellar neurons from oxidative stress
    • Kim TS, Kawaguchi M, Suzuki M, et al. The ZFHX3 (ATBF1) transcription factor induces PDGFRB, which activates ATM in the cytoplasm to protect cerebellar neurons from oxidative stress. Dis Model Mech. 2010;3(11-12):752-762.
    • (2010) Dis Model Mech , vol.3 , Issue.11-12 , pp. 752-762
    • Kim, T.S.1    Kawaguchi, M.2    Suzuki, M.3
  • 68
    • 27844562649 scopus 로고    scopus 로고
    • Tuberous sclerosis complex: Linking growth and energy signaling pathways with human disease
    • Astrinidis A, Henske EP. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease. Oncogene. 2005; 24(50):7475-7481.
    • (2005) Oncogene , vol.24 , Issue.50 , pp. 7475-7481
    • Astrinidis, A.1    Henske, E.P.2
  • 69
    • 1542618348 scopus 로고    scopus 로고
    • The tumor suppressor LKB1 kinase directly activates amp-activated kinase and regulates apoptosis in response to energy stress
    • Shaw RJ, Kosmatka M, Bardeesy N, Hurley RL, Witters LA, DePinho RA, Cantley LC. The tumor suppressor LKB1 kinase directly activates AMP-activated kinase and regulates apoptosis in response to energy stress. Proc Natl Acad Sci USA. 2004;101(10):3329-3335.
    • (2004) Proc Natl Acad Sci USA , vol.101 , Issue.10 , pp. 3329-3335
    • Shaw, R.J.1    Kosmatka, M.2    Bardeesy, N.3    Hurley, R.L.4    Witters, L.A.5    DePinho, R.A.6    Cantley, L.C.7
  • 70
    • 0036901639 scopus 로고    scopus 로고
    • Ionizing radiation induces ataxia telangiectasia mutated kinase (ATM)-mediated phosphorylation of LKB1/STK11 at Thr-366
    • Sapkota GP, Deak M, Kieloch A, et al. Ionizing radiation induces ataxia telangiectasia mutated kinase (ATM)-mediated phosphorylation of LKB1/STK11 at Thr-366. Biochem J. 2002; 368(Pt 2):507-516.
    • (2002) Biochem J , vol.368 , pp. 507-516
    • Sapkota, G.P.1    Deak, M.2    Kieloch, A.3
  • 71
    • 78649231611 scopus 로고    scopus 로고
    • mTORC1 signaling under hypoxic conditions is controlled by ATM-dependent phosphorylation of HIF-1a
    • Cam H, Easton JB, High A, Houghton PJ. mTORC1 signaling under hypoxic conditions is controlled by ATM-dependent phosphorylation of HIF-1a. Mol Cell. 2010;40(4):509-520.
    • (2010) Mol Cell , vol.40 , Issue.4 , pp. 509-520
    • Cam, H.1    Easton, J.B.2    High, A.3    Houghton, P.J.4
  • 72
    • 79551580561 scopus 로고    scopus 로고
    • ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair
    • Cosentino C, Grieco D, Costanzo V. ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair. EMBO J. 2011;30(3):546-555.
    • (2011) EMBO J , vol.30 , Issue.3 , pp. 546-555
    • Cosentino, C.1    Grieco, D.2    Costanzo, V.3
  • 73
    • 0033662156 scopus 로고    scopus 로고
    • Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1
    • Yang DQ, Kastan MB. Participation of ATM in insulin signalling through phosphorylation of eIF-4E-binding protein 1. Nat Cell Biol. 2000; 2(12):893-898.
    • (2000) Nat Cell Biol , vol.2 , Issue.12 , pp. 893-898
    • Yang, D.Q.1    Kastan, M.B.2
  • 74
    • 20044390541 scopus 로고    scopus 로고
    • Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM
    • Viniegra JG, Martínez N, Modirassari P, et al. Full activation of PKB/Akt in response to insulin or ionizing radiation is mediated through ATM. J Biol Chem. 2005;280(6):4029-4036.
    • (2005) J Biol Chem , vol.280 , Issue.6 , pp. 4029-4036
    • Viniegra, J.G.1    Martínez, N.2    Modirassari, P.3
  • 75
    • 45449097412 scopus 로고    scopus 로고
    • Atm protein kinase mediates full activation of akt and regulates glucose transporter 4 translocation by insulin in muscle cells
    • Halaby MJ, Hibma JC, He J, Yang DQ. ATM protein kinase mediates full activation of Akt and regulates glucose transporter 4 translocation by insulin in muscle cells. Cell Signal. 2008;20(8): 1555-1563.
    • (2008) Cell Signal , vol.20 , Issue.8 , pp. 1555-1563
    • Halaby, M.J.1    Hibma, J.C.2    He, J.3    Yang, D.Q.4
  • 76
    • 84855607470 scopus 로고    scopus 로고
    • The ATM protein kinase and cellular redox signaling: beyond the DNA damage response
    • Ditch S, Paull TT. The ATM protein kinase and cellular redox signaling: beyond the DNA damage response. Trends Biochem Sci. 2012; 37(1):15-22.
    • (2012) Trends Biochem Sci , vol.37 , Issue.1 , pp. 15-22
    • Ditch, S.1    Paull, T.T.2
  • 77
    • 17444372418 scopus 로고    scopus 로고
    • Platelet-derived growth factor-BB pretreatment attenuates excitotoxic death in cultured hippocampal neurons
    • Tseng HC, Dichter MA. Platelet-derived growth factor-BB pretreatment attenuates excitotoxic death in cultured hippocampal neurons. Neurobiol Dis. 2005;19(1-2):77-83.
    • (2005) Neurobiol Dis , vol.19 , Issue.1-2 , pp. 77-83
    • Tseng, H.C.1    Dichter, M.A.2
  • 78
    • 33750044112 scopus 로고    scopus 로고
    • Stress and mtorture signaling
    • Reiling JH, Sabatini DM. Stress and mTORture signaling. Oncogene. 2006;25(48):6373-6383.
    • (2006) Oncogene , vol.25 , Issue.48 , pp. 6373-6383
    • Reiling, J.H.1    Sabatini, D.M.2
  • 79
    • 77749233738 scopus 로고    scopus 로고
    • ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS
    • Alexander A, Cai SL, Kim J, et al. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. Proc Natl Acad Sci USA. 2010;107(9):4153-4158.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.9 , pp. 4153-4158
    • Alexander, A.1    Cai, S.L.2    Kim, J.3
  • 80
    • 77953156240 scopus 로고    scopus 로고
    • 14-3-3 binding sites in the snail protein are essential for snail-mediated transcriptional repression and epithelial-mesenchymal differentiation
    • Hou Z, Peng H, White DE, Wang P, Lieberman PM, Halazonetis T, Rauscher FJ III. 14-3-3 binding sites in the snail protein are essential for snail-mediated transcriptional repression and epithelial-mesenchymal differentiation. Cancer Res. 2010;70(11):4385-4393.
    • (2010) Cancer Res , vol.70 , Issue.11 , pp. 4385-4393
    • Hou, Z.1    Peng, H.2    White, D.E.3    Wang, P.4    Lieberman, P.M.5    Halazonetis, T.6    Rauscher, F.J.7
  • 81
    • 78649364332 scopus 로고    scopus 로고
    • Hypoxia-inducible factors and the response to hypoxic stress
    • Majmundar AJ, Wong WJ, Simon MC. Hypoxia-inducible factors and the response to hypoxic stress. Mol Cell. 2010;40(2):294-309.
    • (2010) Mol Cell , vol.40 , Issue.2 , pp. 294-309
    • Majmundar, A.J.1    Wong, W.J.2    Simon, M.C.3
  • 83
    • 31544453366 scopus 로고    scopus 로고
    • Glutathione-related enzymes and the eye
    • Ganea E, Harding JJ. Glutathione-related enzymes and the eye. Curr Eye Res. 2006;31(1): 1-11.
    • (2006) Curr Eye Res , vol.31 , Issue.1 , pp. 1-11
    • Ganea, E.1    Harding, J.J.2
  • 84
    • 0037314215 scopus 로고    scopus 로고
    • Neuronal degeneration and mitochondrial dysfunction
    • Schon EA, Manfredi G. Neuronal degeneration and mitochondrial dysfunction. J Clin Invest. 2003;111(3):303-312.
    • (2003) J Clin Invest , vol.111 , Issue.3 , pp. 303-312
    • Schon, E.A.1    Manfredi, G.2
  • 85
    • 33745410626 scopus 로고    scopus 로고
    • Mitochondrial disease
    • Schapira AH. Mitochondrial disease. Lancet. 2006;368(9529):70-82.
    • (2006) Lancet , vol.368 , Issue.9529 , pp. 70-82
    • Schapira, A.H.1
  • 86
    • 24144450324 scopus 로고    scopus 로고
    • Mitochondrial inhibition and oxidative stress: Reciprocating players in neurodegeneration
    • Zeevalk GD, Bernard LP, Song C, Gluck M, Ehrhart J. Mitochondrial inhibition and oxidative stress: reciprocating players in neurodegeneration. Antioxid Redox Signal. 2005;7(9-10):1117-1139.
    • (2005) Antioxid Redox Signal , vol.7 , Issue.9-10 , pp. 1117-1139
    • Zeevalk, G.D.1    Bernard, L.P.2    Song, C.3    Gluck, M.4    Ehrhart, J.5
  • 87
    • 33745028132 scopus 로고    scopus 로고
    • The role of mitochondria in inherited neurodegenerative diseases
    • Kwong JQ, Beal MF, Manfredi G. The role of mitochondria in inherited neurodegenerative diseases. J Neurochem. 2006;97(6):1659-1675.
    • (2006) J Neurochem , vol.97 , Issue.6 , pp. 1659-1675
    • Kwong, J.Q.1    Beal, M.F.2    Manfredi, G.3
  • 88
    • 77953500851 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in neurodegenerative diseases and cancer
    • de Moura MB, dos Santos LS, Van Houten B. Mitochondrial dysfunction in neurodegenerative diseases and cancer. Environ Mol Mutagen. 2010;51(5):391-405.
    • (2010) Environ Mol Mutagen , vol.51 , Issue.5 , pp. 391-405
    • De Moura, M.B.1    Dos Santos, L.S.2    Van Houten, B.3
  • 89
    • 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. Increased oxidative stress in ataxia telangiectasia evidenced by alterations in redox state of brains from Atm-deficient mice. Cancer Res. 2001;61(5): 1849-1854.
    • (2001) Cancer Res , vol.61 , Issue.5 , pp. 1849-1854
    • Kamsler, A.1    Daily, D.2    Hochman, A.3    Stern, N.4    Shiloh, Y.5    Rotman, G.6    Barzilai, A.7
  • 90
    • 0037016764 scopus 로고    scopus 로고
    • Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice
    • Stern N, Hochman A, Zemach N, et al. Accumulation of DNA damage and reduced levels of nicotine adenine dinucleotide in the brains of Atm-deficient mice. J Biol Chem. 2002; 277(1):602-608.
    • (2002) J Biol Chem , vol.277 , Issue.1 , pp. 602-608
    • Stern, N.1    Hochman, A.2    Zemach, N.3
  • 91
    • 34848835736 scopus 로고    scopus 로고
    • Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis
    • Eaton JS, Lin ZP, Sartorelli AC, Bonawitz ND, Shadel GS. Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis. J Clin Invest. 2007; 117(9):2723-2734.
    • (2007) J Clin Invest , vol.117 , Issue.9 , pp. 2723-2734
    • Eaton, J.S.1    Lin, Z.P.2    Sartorelli, A.C.3    Bonawitz, N.D.4    Shadel, G.S.5
  • 93
    • 84856752588 scopus 로고    scopus 로고
    • The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM1/-/ApoE-/- mice
    • Mercer JR, Yu E, Figg N, et al. The mitochondria-targeted antioxidant MitoQ decreases features of the metabolic syndrome in ATM1/-/ApoE-/- mice. Free Radic Biol Med. 2012;52(5):841-849.
    • (2012) Free Radic Biol Med , vol.52 , Issue.5 , pp. 841-849
    • Mercer, J.R.1    Yu, E.2    Figg, N.3
  • 94
    • 80052421499 scopus 로고    scopus 로고
    • Mre11 is expressed in mammalian mitochondria where it binds to mitochondrial DNA
    • Dmitrieva NI, Malide D, Burg MB. Mre11 is expressed in mammalian mitochondria where it binds to mitochondrial DNA. Am J Physiol Regul Integr Comp Physiol. 2011;301(3):R632-R640.
    • (2011) Am J Physiol Regul Integr Comp Physiol , vol.301 , Issue.3 , pp. R632-R640
    • Dmitrieva, N.I.1    Malide, D.2    Burg, M.B.3
  • 96
    • 33750624967 scopus 로고    scopus 로고
    • Mitochondrial signaling, tor, and life span
    • Schieke SM, Finkel T. Mitochondrial signaling, TOR, and life span. Biol Chem. 2006;387(10-11): 1357-1361.
    • (2006) Biol Chem , vol.387 , Issue.10-11 , pp. 1357-1361
    • Schieke, S.M.1    Finkel, T.2
  • 97
    • 33748752151 scopus 로고    scopus 로고
    • The mammalian target of rapamycin (mTOR) pathway regulates mitochondrial oxygen consumption and oxidative capacity
    • Schieke SM, Phillips D, McCoy JP Jr, Aponte AM, Shen RF, Balaban RS, Finkel T. The mammalian target of rapamycin (mTOR) pathway regulates mitochondrial oxygen consumption and oxidative capacity. J Biol Chem. 2006;281(37):27643-27652.
    • (2006) J Biol Chem , vol.281 , Issue.37 , pp. 27643-27652
    • Schieke, S.M.1    Phillips, D.2    McCoy, J.P.3    Aponte, A.M.4    Shen, R.F.5    Balaban, R.S.6    Finkel, T.7
  • 98
    • 12844280448 scopus 로고    scopus 로고
    • Phosphorylated brca1 is predominantly located in the nucleus and mitochondria
    • Coene ED, Hollinshead MS, Waeytens AA, et al. Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria. Mol Biol Cell. 2005;16(2):997-1010.
    • (2005) Mol Biol Cell , vol.16 , Issue.2 , pp. 997-1010
    • Coene, E.D.1    Hollinshead, M.S.2    Waeytens, A.A.3
  • 99
    • 33745149291 scopus 로고    scopus 로고
    • P53 regulates mitochondrial respiration
    • Matoba S, Kang JG, Patino WD, et al. p53 regulates mitochondrial respiration. Science. 2006;312(5780):1650-1653.
    • (2006) Science , vol.312 , Issue.5780 , pp. 1650-1653
    • Matoba, S.1    Kang, J.G.2    Patino, W.D.3
  • 100
    • 4444323263 scopus 로고    scopus 로고
    • P53 functions in the incorporation step in DNA base excision repair in mouse liver mitochondria
    • de Souza-Pinto NC, Harris CC, Bohr VA. p53 functions in the incorporation step in DNA base excision repair in mouse liver mitochondria. Oncogene. 2004;23(39):6559-6568.
    • (2004) Oncogene , vol.23 , Issue.39 , pp. 6559-6568
    • De Souza-Pinto, N.C.1    Harris, C.C.2    Bohr, V.A.3
  • 101
    • 0014954015 scopus 로고
    • An unusual form of diabetes mellitus in ataxia telangiectasia
    • Schalch DS, McFarlin DE, Barlow MH. An unusual form of diabetes mellitus in ataxia telangiectasia. N Engl J Med. 1970;282(25): 1396-1402.
    • (1970) N Engl J Med , vol.282 , Issue.25 , pp. 1396-1402
    • Schalch, D.S.1    McFarlin, D.E.2    Barlow, M.H.3
  • 102
    • 0018192112 scopus 로고
    • Extreme insulin resistance in ataxia telangiectasia: Defect in affinity of insulin receptors
    • Bar RS, Levis WR, Rechler MM, et al. Extreme insulin resistance in ataxia telangiectasia: defect in affinity of insulin receptors. N Engl J Med. 1978;298(21):1164-1171.
    • (1978) N Engl J Med , vol.298 , Issue.21 , pp. 1164-1171
    • Bar, R.S.1    Levis, W.R.2    Rechler, M.M.3
  • 103
    • 84865085712 scopus 로고    scopus 로고
    • A mechanism of extreme growth and reliable signaling in sexually selected ornaments and weapons
    • Emlen DJ, Warren IA, Johns A, Dworkin I, Lavine LC. A mechanism of extreme growth and reliable signaling in sexually selected ornaments and weapons. Science. 2012;337(6096): 860-864.
    • (2012) Science , vol.337 , Issue.6096 , pp. 860-864
    • Emlen, D.J.1    Warren, I.A.2    Johns, A.3    Dworkin, I.4    Lavine, L.C.5
  • 104
    • 0033672938 scopus 로고    scopus 로고
    • 4E-BP1 and s6k1: Translational integration sites for nutritional and hormonal information in muscle
    • Shah OJ, Anthony JC, Kimball SR, Jefferson LS. 4E-BP1 and S6K1: translational integration sites for nutritional and hormonal information in muscle. Am J Physiol Endocrinol Metab. 2000; 279(4):E715-E729.
    • (2000) Am J Physiol Endocrinol Metab , vol.279 , Issue.4 , pp. E715-E729
    • Shah, O.J.1    Anthony, J.C.2    Kimball, S.R.3    Jefferson, L.S.4
  • 105
    • 33750449351 scopus 로고    scopus 로고
    • Atm-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome
    • Schneider JG, Finck BN, Ren J, et al. ATM-dependent suppression of stress signaling reduces vascular disease in metabolic syndrome. Cell Metab. 2006;4(5):377-389.
    • (2006) Cell Metab , vol.4 , Issue.5 , pp. 377-389
    • Schneider, J.G.1    Finck, B.N.2    Ren, J.3
  • 106
    • 3242749145 scopus 로고    scopus 로고
    • 6-[18F] Fluoro-A-85380, a new PET tracer for the nicotinic acetylcholine receptor: studies in the human brain and in vivo demonstration of specific binding in white matter
    • Ding YS, Fowler JS, Logan J, et al. 6-[18F] Fluoro-A-85380, a new PET tracer for the nicotinic acetylcholine receptor: studies in the human brain and in vivo demonstration of specific binding in white matter. Synapse. 2004; 53(3):184-189.
    • (2004) Synapse , vol.53 , Issue.3 , pp. 184-189
    • Ding, Y.S.1    Fowler, J.S.2    Logan, J.3
  • 107
    • 78649678170 scopus 로고    scopus 로고
    • Functional expression of sglts in rat brain
    • Yu AS, Hirayama BA, Timbol G, et al. Functional expression of SGLTs in rat brain. Am J Physiol Cell Physiol. 2010;299(6):C1277-C1284.
    • (2010) Am J Physiol Cell Physiol , vol.299 , Issue.6 , pp. C1277-C1284
    • Yu, A.S.1    Hirayama, B.A.2    Timbol, G.3
  • 108
    • 84862833655 scopus 로고    scopus 로고
    • Requirement of the ATM/p53 tumor suppressor pathway for glucose homeostasis
    • Armata HL, Golebiowski D, Jung DY, Ko HJ, Kim JK, Sluss HK. Requirement of the ATM/p53 tumor suppressor pathway for glucose homeostasis. Mol Cell Biol. 2010;30(24): 5787-5794.
    • (2010) Mol Cell Biol , vol.30 , Issue.24 , pp. 5787-5794
    • Armata, H.L.1    Golebiowski, D.2    Jung, D.Y.3    Ko, H.J.4    Kim, J.K.5    Sluss, H.K.6
  • 109
    • 0034700243 scopus 로고    scopus 로고
    • Mortality rates among carriers of ataxia-telangiectasia mutant alleles
    • Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med. 2000;133(10):770-778.
    • (2000) Ann Intern Med , vol.133 , Issue.10 , pp. 770-778
    • Su, Y.1    Swift, M.2
  • 110
    • 0038339472 scopus 로고    scopus 로고
    • The common mitochondrial DNA deletion deltamtDNA(4977): Shedding new light to the concept of a tumor suppressor mutation
    • Dani SU, Dani MA, Simpson AJ. The common mitochondrial DNA deletion deltamtDNA(4977): shedding new light to the concept of a tumor suppressor mutation. Med Hypotheses. 2003; 61(1):60-63.
    • (2003) Med Hypotheses , vol.61 , Issue.1 , pp. 60-63
    • Dani, S.U.1    Dani, M.A.2    Simpson, A.J.3
  • 111
    • 79251612707 scopus 로고    scopus 로고
    • Common variants near atm are associated with glycemic response to metformin in type 2 diabetes
    • GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group; Wellcome Trust Case Control Consortium 2; MAGIC investigators
    • Zhou K, Bellenguez C, Spencer CC, et al; GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group; Wellcome Trust Case Control Consortium 2; MAGIC investigators. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet. 2011;43(2): 117-120.
    • (2011) Nat Genet , vol.43 , Issue.2 , pp. 117-120
    • Zhou, K.1    Bellenguez, C.2    Spencer, C.C.3
  • 112
    • 0034773404 scopus 로고    scopus 로고
    • Role of AMP-activated protein kinase in mechanism of metformin action
    • Zhou G, Myers R, Li Y, et al. Role of AMP-activated protein kinase in mechanism of metformin action. J Clin Invest. 2001;108(8): 1167-1174.
    • (2001) J Clin Invest , vol.108 , Issue.8 , pp. 1167-1174
    • Zhou, G.1    Myers, R.2    Li, Y.3
  • 113
    • 77956410464 scopus 로고    scopus 로고
    • Use of cells expressing gamma subunit variants to identify diverse mechanisms of ampk activation
    • Hawley SA, Ross FA, Chevtzoff C, et al. Use of cells expressing gamma subunit variants to identify diverse mechanisms of AMPK activation. Cell Metab. 2010;11(6):554-565.
    • (2010) Cell Metab , vol.11 , Issue.6 , pp. 554-565
    • Hawley, S.A.1    Ross, F.A.2    Chevtzoff, C.3
  • 114
    • 70350771055 scopus 로고    scopus 로고
    • DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’
    • Nahas SA, Gatti RA. DNA double strand break repair defects, primary immunodeficiency disorders, and ‘radiosensitivity’. Curr Opin Allergy Clin Immunol. 2009;9(6):510-516.
    • (2009) Curr Opin Allergy Clin Immunol , vol.9 , Issue.6 , pp. 510-516
    • Nahas, S.A.1    Gatti, R.A.2
  • 115
    • 84856503019 scopus 로고    scopus 로고
    • Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival
    • Nahas SA, Davies R, Fike F, et al. Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival. Radiat Res. 2012;177(2):176-186.
    • (2012) Radiat Res , vol.177 , Issue.2 , pp. 176-186
    • Nahas, S.A.1    Davies, R.2    Fike, F.3
  • 116
    • 80051717220 scopus 로고    scopus 로고
    • Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia
    • Devgan SS, Sanal O, Doil C, et al. Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. Cell Death Differ. 2011; 18(9):1500-1506.
    • (2011) Cell Death Differ , vol.18 , Issue.9 , pp. 1500-1506
    • Devgan, S.S.1    Sanal, O.2    Doil, C.3
  • 117
    • 59049091728 scopus 로고    scopus 로고
    • RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins
    • Doil C, Mailand N, Bekker-Jensen S, et al. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. Cell. 2009; 136(3):435-446.
    • (2009) Cell , vol.136 , Issue.3 , pp. 435-446
    • Doil, C.1    Mailand, N.2    Bekker-Jensen, S.3
  • 118
    • 65149095154 scopus 로고    scopus 로고
    • Human RAD50 deficiency in a nijmegen breakage syndrome-like disorder
    • Waltes R, Kalb R, Gatei M, et al. Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet. 2009;84(5): 605-616.
    • (2009) Am J Hum Genet , vol.84 , Issue.5 , pp. 605-616
    • Waltes, R.1    Kalb, R.2    Gatei, M.3
  • 119
    • 84864441435 scopus 로고    scopus 로고
    • Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM
    • Isoda T, Takagi M, Piao J, et al. Process for immune defect and chromosomal translocation during early thymocyte development lacking ATM. Blood. 2012;120(4):789-799.
    • (2012) Blood , vol.120 , Issue.4 , pp. 789-799
    • Isoda, T.1    Takagi, M.2    Piao, J.3
  • 120
    • 33645785057 scopus 로고    scopus 로고
    • A severe form of human combined immunodeficiency due to mutations in DNA ligase IV
    • Enders A, Fisch P, Schwarz K, et al. A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 2006; 176(8):5060-5068.
    • (2006) J Immunol , vol.176 , Issue.8 , pp. 5060-5068
    • Enders, A.1    Fisch, P.2    Schwarz, K.3
  • 121
    • 77956915114 scopus 로고    scopus 로고
    • AID-induced genotoxic stress promotes b cell differentiation in the germinal center via ATM and LKB1 signaling
    • Sherman MH, Kuraishy AI, Deshpande C, et al. AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling. Mol Cell. 2010;39(6): 873-885.
    • (2010) Mol Cell , vol.39 , Issue.6 , pp. 873-885
    • Sherman, M.H.1    Kuraishy, A.I.2    Deshpande, C.3
  • 122
    • 84856812404 scopus 로고    scopus 로고
    • RAG-induced DNA double-strand breaks signal through Pim2 to promote pre-B cell survival and limit proliferation
    • Bednarski JJ, Nickless A, Bhattacharya D, Amin RH, Schlissel MS, Sleckman BP. RAG-induced DNA double-strand breaks signal through Pim2 to promote pre-B cell survival and limit proliferation. J Exp Med. 2012;209(1):11-17.
    • (2012) J Exp Med , vol.209 , Issue.1 , pp. 11-17
    • Bednarski, J.J.1    Nickless, A.2    Bhattacharya, D.3    Amin, R.H.4    Schlissel, M.S.5    Sleckman, B.P.6
  • 123
    • 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, Maser RS, Stankovic T, et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell. 1999; 99(6):577-587.
    • (1999) Cell , vol.99 , Issue.6 , pp. 577-587
    • Stewart, G.S.1    Maser, R.S.2    Stankovic, T.3
  • 124
    • 18244362081 scopus 로고    scopus 로고
    • DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency
    • O’Driscoll M, Cerosaletti KM, Girard PM, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. 2001;8(6): 1175-1185.
    • (2001) Mol Cell , vol.8 , Issue.6 , pp. 1175-1185
    • O’Driscoll, M.1    Cerosaletti, K.M.2    Girard, P.M.3
  • 125
    • 77649188409 scopus 로고    scopus 로고
    • Mutations in pnkp cause microcephaly, seizures and defects in DNA repair
    • Shen J, Gilmore EC, Marshall CA, et al. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010;42(3):245-249.
    • (2010) Nat Genet , vol.42 , Issue.3 , pp. 245-249
    • Shen, J.1    Gilmore, E.C.2    Marshall, C.A.3
  • 126
    • 36749029369 scopus 로고    scopus 로고
    • RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling
    • Stewart GS, Stankovic T, Byrd PJ, et al. RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci USA. 2007;104(43):16910-16915.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.43 , pp. 16910-16915
    • Stewart, G.S.1    Stankovic, T.2    Byrd, P.J.3
  • 127
    • 14844288960 scopus 로고    scopus 로고
    • Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the fanconi protein pathway
    • Nahas SA, Lai CH, Gatti RA. Post-irradiation phosphorylation of structural maintenance chromosome 1 (SMC1) is independent of the Fanconi protein pathway. Int J Radiat Oncol Biol Phys. 2005;61(4):1167-1172.
    • (2005) Int J Radiat Oncol Biol Phys , vol.61 , Issue.4 , pp. 1167-1172
    • Nahas, S.A.1    Lai, C.H.2    Gatti, R.A.3
  • 128
    • 84857041145 scopus 로고    scopus 로고
    • Shining a light on xeroderma pigmentosum
    • DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol. 2012;132(3 Pt 2):785-796.
    • (2012) J Invest Dermatol , vol.132 , Issue.3 , pp. 785-796
    • DiGiovanna, J.J.1    Kraemer, K.H.2
  • 129
    • 84859864552 scopus 로고    scopus 로고
    • Targeting the DNA damage response in oncology: Past, present and future perspectives
    • Basu B, Yap TA, Molife LR, de Bono JS. Targeting the DNA damage response in oncology: past, present and future perspectives. Curr Opin Oncol. 2012;24(3):316-324.
    • (2012) Curr Opin Oncol , vol.24 , Issue.3 , pp. 316-324
    • Basu, B.1    Yap, T.A.2    Molife, L.R.3    De Bono, J.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.