ID   C3ABR
AC   CVCL_M914
SY   Control 3 Australia BRisbane
DR   BTO; BTO_0006124
DR   EFO; EFO_0022652
DR   Wikidata; Q54808154
RX   PubMed=1944384;
RX   PubMed=7433105;
RX   PubMed=9150358;
RX   PubMed=11080496;
RX   PubMed=12195425;
RX   PubMed=12645530;
RX   PubMed=15044383;
RX   PubMed=16540636;
RX   PubMed=17347666;
RX   PubMed=17562789;
RX   PubMed=19643912;
RX   PubMed=21149446;
RX   PubMed=25868131;
CC   From: Queensland Institute of Medical Research; Brisbane; Australia.
CC   Population: Caucasian.
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   63Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 19-12-24; Version: 14
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RX   PubMed=1944384; DOI=10.1016/0921-8734(91)90029-B;
RA   Chen P., Kidson C., Lavin M.F.;
RT   "Heterogeneity in Alzheimer's disease: evidence from cellular
RT   radiosensitivity and complementation of this phenotype.";
RL   Mutat. Res. 256:21-27(1991).
//
RX   PubMed=7433105; DOI=10.1093/nar/8.16.3709; PMCID=PMC324185;
RA   Houldsworth J., Lavin M.F.;
RT   "Effect of ionizing radiation on DNA synthesis in ataxia
RT   telangiectasia cells.";
RL   Nucleic Acids Res. 8:3709-3720(1980).
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RX   PubMed=9150358; DOI=10.1038/sj.onc.1201037;
RA   Watters D., Khanna K.K., Beamish H.J., Birrell G.W., Spring K., Kedar P.,
RA   Gatei M., Stenzel D., Hobson K., Kozlov S.V., Zhang N., Farrell A.,
RA   Ramsay J., Gatti R.A., Lavin M.F.;
RT   "Cellular localisation of the ataxia-telangiectasia (ATM) gene product
RT   and discrimination between mutated and normal forms.";
RL   Oncogene 14:1911-1921(1997).
//
RX   PubMed=11080496; DOI=10.1074/jbc.M006190200;
RA   Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D.,
RA   Rodemann P.H., Lavin M.F.;
RT   "Epidermal growth factor sensitizes cells to ionizing radiation by
RT   down-regulating protein mutated in ataxia-telangiectasia.";
RL   J. Biol. Chem. 276:8884-8891(2001).
//
RX   PubMed=12195425; DOI=10.1038/ng958;
RA   Spring K., Ahangari F., Scott S.P., Waring P.M., Purdie D.M., Chen P.C.,
RA   Hourigan K., Ramsay J., McKinnon P.J., Swift M., Lavin M.F.;
RT   "Mice heterozygous for mutation in Atm, the gene involved in
RT   ataxia-telangiectasia, have heightened susceptibility to cancer.";
RL   Nat. Genet. 32:185-190(2002).
//
RX   PubMed=12645530; DOI=10.1074/jbc.M300003200;
RA   Kozlov S.V., Gueven N., Keating K.E., Ramsay J., Lavin M.F.;
RT   "ATP activates ataxia-telangiectasia mutated (ATM) in vitro.
RT   Importance of autophosphorylation.";
RL   J. Biol. Chem. 278:9309-9317(2003).
//
RX   PubMed=15044383; DOI=10.1093/hmg/ddh122;
RA   Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H.,
RA   Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.;
RT   "Aprataxin, a novel protein that protects against genotoxic stress.";
RL   Hum. Mol. Genet. 13:1081-1093(2004).
//
RX   PubMed=16540636; DOI=10.1158/0008-5472.CAN-05-3428;
RA   Gueven N., Becherel O.J., Birrell G.W., Chen P., DelSal G., Carney J.P.,
RA   Grattan-Smith P.J., Lavin M.F.;
RT   "Defective p53 response and apoptosis associated with an
RT   ataxia-telangiectasia-like phenotype.";
RL   Cancer Res. 66:2907-2912(2006).
//
RX   PubMed=17347666; DOI=10.1038/sj.cdd.4402116;
RA   Gueven N., Becherel O.J., Howe O., Chen P.-J., Haince J.-F.,
RA   Ouellet M.-E., Poirier G.G., Waterhouse N., Fusser M., Epe B.,
RA   Menissier-de Murcia J., de Murcia G., McGowan C.H., Parton R.G.,
RA   Mothersill C., Grattan-Smith P.J., Lavin M.F.;
RT   "A novel form of ataxia oculomotor apraxia characterized by oxidative
RT   stress and apoptosis resistance.";
RL   Cell Death Differ. 14:1149-1161(2007).
//
RX   PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358;
RA   Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R.,
RA   Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M.,
RA   Epe B., Gueven N., Lavin M.F.;
RT   "Senataxin, defective in ataxia oculomotor apraxia type 2, is involved
RT   in the defense against oxidative DNA damage.";
RL   J. Cell Biol. 177:969-979(2007).
//
RX   PubMed=19643912; DOI=10.1093/hmg/ddp359;
RA   Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J.,
RA   Lavin M.F.;
RT   "Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic
RT   endonuclease 1 (APE1) function together to protect the genome against
RT   oxidative damage.";
RL   Hum. Mol. Genet. 18:4102-4117(2009).
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RX   PubMed=21149446; DOI=10.1074/jbc.M110.204065; PMCID=PMC3059052;
RA   Kozlov S.V., Graham M.E., Jakob B., Tobias F., Kijas A.W., Tanuji M.,
RA   Chen P., Robinson P.J., Taucher-Scholz G., Suzuki K., So S., Chen D.,
RA   Lavin M.F.;
RT   "Autophosphorylation and ATM activation: additional sites add to the
RT   complexity.";
RL   J. Biol. Chem. 286:9107-9119(2011).
//
RX   PubMed=25868131; DOI=10.1016/j.mrgentox.2015.03.012;
RA   Kobayashi J., Saito Y., Okui M., Miwa N., Komatsu K.;
RT   "Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA
RT   damage responses.";
RL   Mutat. Res. Genet. Toxicol. Environ. Mutagen. 782:42-50(2015).
//