-
1
-
-
0028143527
-
CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, et al, (1994) CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1, Nat Genet, 8, 221–228. doi: 10.1038/ng1194-221 7874163
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
-
2
-
-
0034094873
-
Glutamine repeats and neurodegeneration
-
Zoghbi HY, Orr HT, (2000) Glutamine repeats and neurodegeneration. Ann Rev Neurosci, 23, 213–247. doi: 10.1146/annurev.neuro.23.1.217
-
(2000)
Ann Rev Neurosci
, vol.23
, pp. 213-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
3
-
-
0344531010
-
Molecular analysis of Machado-Joseph disease
-
Kobayashi T, Kakizuka A, (2003) Molecular analysis of Machado-Joseph disease, Cytogenetic and Genome Res, 100, 261–275. doi: 10.1159/000072862
-
(2003)
Cytogenetic and Genome Res
, vol.100
, pp. 261-275
-
-
Kobayashi, T.1
Kakizuka, A.2
-
4
-
-
0026708036
-
Machado-Joseph disease: an autosomal dominant system degeneration
-
Rosenberg RN, (1992) Machado-Joseph disease: an autosomal dominant system degeneration. Mov Disord, 3, 193–203. doi: 10.1002/mds.870070302
-
(1992)
Mov Disord
, vol.3
, pp. 193-203
-
-
Rosenberg, R.N.1
-
5
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, et al, (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q, Neurology, 44, 1302–1308. doi: 10.1212/WNL.44.7.1302 8035935
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
Sakamoto, H.4
Saito, K.5
-
6
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features
-
Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, et al, (1996) Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular and neuropathological features, Ann Neurol, 39, 490–499. doi: 10.1002/ana.410390411 8619527
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Durr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
-
7
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type 1: MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia type 1, 2 and 3
-
Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, et al, (1998) Autosomal dominant cerebellar ataxia type 1: MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia type 1, 2 and 3, Brain, 121, 1687–1693. doi: 10.1093/brain/121.9.1687 9762957
-
(1998)
Brain
, vol.121
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
Luft, A.R.4
Welte, D.5
-
8
-
-
25844506224
-
Therapeutic development for triplet repeat expansion diseases
-
Di Prospero NA, Fishbeck KH, (2005) Therapeutic development for triplet repeat expansion diseases, Nat Rev Genet, 6, 756–765. doi: 10.1038/nrg1690 16205715
-
(2005)
Nat Rev Genet
, vol.6
, pp. 756-765
-
-
Di Prospero, N.A.1
Fishbeck, K.H.2
-
9
-
-
84860660444
-
Toward understanding Machado-Joseph disease
-
Costa MD, Paulson HL, (2012) Toward understanding Machado-Joseph disease, Progress in Neurobiol, 97, 239–257. doi: 10.1016/j.pneurobio.2011.11.006
-
(2012)
Progress in Neurobiol
, vol.97
, pp. 239-257
-
-
Costa, M.D.1
Paulson, H.L.2
-
10
-
-
55549086868
-
The deubiquitinating enzyme ataxn-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains
-
Winborn BJ, Travis SM, Todi SV, Scaglione KM, Xu P, et al, (2008) The deubiquitinating enzyme ataxn-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains, J Biol Chem, 283, 26436–43. doi: 10.1074/jbc.M803692200 18599482
-
(2008)
J Biol Chem
, vol.283
, pp. 26436-26443
-
-
Winborn, B.J.1
Travis, S.M.2
Todi, S.V.3
Scaglione, K.M.4
Xu, P.5
-
11
-
-
78649811312
-
Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease peotein ataxin-3 are regulated by ubiquitination at lysine 117
-
Todi SV, Scaglione KM, Blount JR, Basrur V, Conlon KP, et al, (2010) Activity and cellular functions of the deubiquitinating enzyme and polyglutamine disease peotein ataxin-3 are regulated by ubiquitination at lysine 117, J Biol Chem, 285, 39303–39313. doi: 10.1074/jbc.M110.181610 20943656
-
(2010)
J Biol Chem
, vol.285
, pp. 39303-39313
-
-
Todi, S.V.1
Scaglione, K.M.2
Blount, J.R.3
Basrur, V.4
Conlon, K.P.5
-
12
-
-
79960668226
-
Polyglutamine diseases: the special case of ataxin-3 and Machado Joseph disease
-
Matos CA, de Macedo-Ribeiro S, Carvalho AL, (2011) Polyglutamine diseases: the special case of ataxin-3 and Machado Joseph disease, Prog Neurobiol, 95, 26–48. doi: 10.1016/j.pneurobio.2011.06.007 21740957
-
(2011)
Prog Neurobiol
, vol.95
, pp. 26-48
-
-
Matos, C.A.1
de Macedo-Ribeiro, S.2
Carvalho, A.L.3
-
13
-
-
34548410374
-
Inactivation of mouse Atxn3 (ataxin-3) gene increases protein ubiquitination
-
Schmitt I, Linden M, Khazneh H, Evert BO, Breuer P, et al, (2007) Inactivation of mouse Atxn3 (ataxin-3) gene increases protein ubiquitination, Biochem Biophy Res Commun, 362, 734–739. doi: 10.1016/j.bbrc.2007.08.062
-
(2007)
Biochem Biophy Res Commun
, vol.362
, pp. 734-739
-
-
Schmitt, I.1
Linden, M.2
Khazneh, H.3
Evert, B.O.4
Breuer, P.5
-
14
-
-
84885023525
-
Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice
-
Rodriguez-Lebron E, doCamro Costa M, Luna-Cancalon K, Peron TM, Fischer S, et al, (2013): Silencing mutant ATXN3 expression resolves molecular phenotypes in SCA3 transgenic mice, Mol Therapy, 21, 1909–1918. doi: 10.1038/mt.2013.152
-
(2013)
Mol Therapy
, vol.21
, pp. 1909-1918
-
-
Rodriguez-Lebron, E.1
doCamro Costa, M.2
Luna-Cancalon, K.3
Peron, T.M.4
Fischer, S.5
-
15
-
-
30744474942
-
Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating BAX and downregulating Bcl-XL
-
Chou A-H, Yeh T-H, Kuo Y-L, Kao Y-C, Jou M-J, et al, (2006) Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating BAX and downregulating Bcl-XL, Neurobiol Dis, 21, 333–345. doi: 10.1016/j.nbd.2005.07.011 16112867
-
(2006)
Neurobiol Dis
, vol.21
, pp. 333-345
-
-
Chou, A.-H.1
Yeh, T.-H.2
Kuo, Y.-L.3
Kao, Y.-C.4
Jou, M.-J.5
-
16
-
-
78651254160
-
p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons
-
Chou A-H, Lin A-C, Hong K-Y, Hu S-H, Chen Y-L, et al, (2011) p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons, Neurochem Int, 58, 145–152. doi: 10.1016/j.neuint.2010.11.005 21092747
-
(2011)
Neurochem Int
, vol.58
, pp. 145-152
-
-
Chou, A.-H.1
Lin, A.-C.2
Hong, K.-Y.3
Hu, S.-H.4
Chen, Y.-L.5
-
17
-
-
79955663428
-
Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair
-
Weinfeld M, Mani RS, Abdou I, Aceytuno RD, Glover JN, (2011) Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair, Trends Biochem Sci, 36, 262–71. doi: 10.1016/j.tibs.2011.01.006 21353781
-
(2011)
Trends Biochem Sci
, vol.36
, pp. 262-271
-
-
Weinfeld, M.1
Mani, R.S.2
Abdou, I.3
Aceytuno, R.D.4
Glover, J.N.5
-
18
-
-
84856070741
-
Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3’-phosphatase in maintenance of mitochondrial genome
-
Mandal SM, Hegde ML, Chatterjee A, Hedge PM, Szczesny B, et al, (2012) Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3’-phosphatase in maintenance of mitochondrial genome, J Biol Chem, 287, 2819–2829. doi: 10.1074/jbc.M111.272179 22130663
-
(2012)
J Biol Chem
, vol.287
, pp. 2819-2829
-
-
Mandal, S.M.1
Hegde, M.L.2
Chatterjee, A.3
Hedge, P.M.4
Szczesny, B.5
-
19
-
-
33644861986
-
Identification of new fluorescent protein fragments for bimolecular fluorescence complementation analysis under physiological conditions
-
Shyu YJ, Liu H, Deng X, Hu CD, (2006) Identification of new fluorescent protein fragments for bimolecular fluorescence complementation analysis under physiological conditions, Biotechniques, 40, 61–66. doi: 10.2144/000112036 16454041
-
(2006)
Biotechniques
, vol.40
, pp. 61-66
-
-
Shyu, Y.J.1
Liu, H.2
Deng, X.3
Hu, C.D.4
-
20
-
-
77953578193
-
Proximity ligation assay: a recent addition to the proteomics toolbox
-
Weibrecht I, Leuchowius KJ, Clausson CM, Conze T, Jarvius M, et al, (2010) Proximity ligation assay: a recent addition to the proteomics toolbox, Expert Rev Proteomics, 7, 401–409. doi: 10.1586/epr.10.10 20536310
-
(2010)
Expert Rev Proteomics
, vol.7
, pp. 401-409
-
-
Weibrecht, I.1
Leuchowius, K.J.2
Clausson, C.M.3
Conze, T.4
Jarvius, M.5
-
21
-
-
84899493975
-
Chronic treatment with 17-DMAG improves balance and co-ordination in a new mouse model of Machado-Joseph disease
-
Silva-Fernandes A, Duarte-Silva S, Neves-Carvalho A, Amorim M, Soares-Cunha C, et al, (2014) Chronic treatment with 17-DMAG improves balance and co-ordination in a new mouse model of Machado-Joseph disease, Neurotherapeutics, 11, 433–49. doi: 10.1007/s13311-013-0255-9 24477711
-
(2014)
Neurotherapeutics
, vol.11
, pp. 433-449
-
-
Silva-Fernandes, A.1
Duarte-Silva, S.2
Neves-Carvalho, A.3
Amorim, M.4
Soares-Cunha, C.5
-
22
-
-
84885850806
-
Association between Machado-Joseph disease and oxidative stress biomarkers
-
Pacheco LS, da Silveira AF, Trott A, Houenou LJ, Algarve TD, et al, (2013) Association between Machado-Joseph disease and oxidative stress biomarkers, Mutat research, 757, 99–103. doi: 10.1016/j.mrgentox.2013.06.023
-
(2013)
Mutat research
, vol.757
, pp. 99-103
-
-
Pacheco, L.S.1
da Silveira, A.F.2
Trott, A.3
Houenou, L.J.4
Algarve, T.D.5
-
23
-
-
2642528031
-
DNA damage-induced activation of ATM and ATM-dependent signaling pathways
-
Kurz EU, Lees-Miller SP, (2004) DNA damage-induced activation of ATM and ATM-dependent signaling pathways, DNA Repair, 3, 889–900. doi: 10.1016/j.dnarep.2004.03.029 15279774
-
(2004)
DNA Repair
, vol.3
, pp. 889-900
-
-
Kurz, E.U.1
Lees-Miller, S.P.2
-
24
-
-
77958191599
-
ATM activation by oxidative stress
-
Guo Z, Kozlov S, Lavin MF, Person MD, Paull TT, (2010): ATM activation by oxidative stress, Science, 330, 517–521. doi: 10.1126/science.1192912 20966255
-
(2010)
Science
, vol.330
, pp. 517-521
-
-
Guo, Z.1
Kozlov, S.2
Lavin, M.F.3
Person, M.D.4
Paull, T.T.5
-
25
-
-
0033781632
-
Neuronal life and death: an essential role for the p53 family
-
Miller FD, Pozniak CD, Walsh GS, (2000) Neuronal life and death: an essential role for the p53 family, Cell Death Differ, 7, 880–888. doi: 10.1038/sj.cdd.4400736 11279533
-
(2000)
Cell Death Differ
, vol.7
, pp. 880-888
-
-
Miller, F.D.1
Pozniak, C.D.2
Walsh, G.S.3
-
26
-
-
18144410245
-
p53 in neuronal apoptosis
-
Culmsee C, Mattson MP, (2005) p53 in neuronal apoptosis, Biochem Biophys Res Commun, 331, 761–777. doi: 10.1016/j.bbrc.2005.03.149 15865932
-
(2005)
Biochem Biophys Res Commun
, vol.331
, pp. 761-777
-
-
Culmsee, C.1
Mattson, M.P.2
-
27
-
-
84856732255
-
Role of p53 in neurodegenerative diseases
-
Chang JR, Ghafouri M, Mukerjee R, Bagashev A, Chabrashvili T, et al, (2011) Role of p53 in neurodegenerative diseases, Neurodegener Dis, 9, 68–80. doi: 10.1159/000329999 22042001
-
(2011)
Neurodegener Dis
, vol.9
, pp. 68-80
-
-
Chang, J.R.1
Ghafouri, M.2
Mukerjee, R.3
Bagashev, A.4
Chabrashvili, T.5
-
28
-
-
21544450545
-
p53 mediates cellular dysfunction and behavioral abnormalities in Huntington disease
-
Bae BJ, Xu H, Igarashi S, Fujomoto M, Agrawal N, et al, (2005) p53 mediates cellular dysfunction and behavioral abnormalities in Huntington disease, Neuron, 47, 29–41. doi: 10.1016/j.neuron.2005.06.005 15996546
-
(2005)
Neuron
, vol.47
, pp. 29-41
-
-
Bae, B.J.1
Xu, H.2
Igarashi, S.3
Fujomoto, M.4
Agrawal, N.5
-
29
-
-
77954659300
-
Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivery neurons
-
Wang HL, Chou AH, Lin AC, Chen SY, Weng YH, et al, (2010) Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivery neurons. Exp Neurol, 224, 486–494. doi: 10.1016/j.expneurol.2010.05.011 20546728
-
(2010)
Exp Neurol
, vol.224
, pp. 486-494
-
-
Wang, H.L.1
Chou, A.H.2
Lin, A.C.3
Chen, S.Y.4
Weng, Y.H.5
-
30
-
-
0030945148
-
Functional interaction between DNA-PK and c-Abl in response to DNA damage
-
Kharbanda S, Pandey P, Jin S, Inoue S, Bharti A, et al, (1997) Functional interaction between DNA-PK and c-Abl in response to DNA damage, Nature, 386, 732–735. doi: 10.1038/386732a0 9109492
-
(1997)
Nature
, vol.386
, pp. 732-735
-
-
Kharbanda, S.1
Pandey, P.2
Jin, S.3
Inoue, S.4
Bharti, A.5
-
31
-
-
0030925565
-
Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation
-
Baskaran R, Wood LD, Whitaker LL, Canman CE, Morgan SE, et al, (1997) Ataxia telangiectasia mutant protein activates c-Abl tyrosine kinase in response to ionizing radiation, Nature, 387, 516–519. doi: 10.1038/387516a0 9168116
-
(1997)
Nature
, vol.387
, pp. 516-519
-
-
Baskaran, R.1
Wood, L.D.2
Whitaker, L.L.3
Canman, C.E.4
Morgan, S.E.5
-
32
-
-
0030992749
-
Interaction between ATM protein and c-Abl in response to DNA damage
-
Shafman T, Khanna KK, Kedar P, Spring K, Kozlov S, et al, (1997) Interaction between ATM protein and c-Abl in response to DNA damage, Nature, 387, 520–523. doi: 10.1038/387520a0 9168117
-
(1997)
Nature
, vol.387
, pp. 520-523
-
-
Shafman, T.1
Khanna, K.K.2
Kedar, P.3
Spring, K.4
Kozlov, S.5
-
33
-
-
0032473917
-
Activation of protein kinase c-δ by the c-Abl tyrosine kinase in response to ionizing radiation
-
Yuan ZM, Utsugisawa T, Ishiko T, Nakada S, Huang Y, et al, (1998) Activation of protein kinase c-δ by the c-Abl tyrosine kinase in response to ionizing radiation, Oncogene, 16, 1643–1648. doi: 10.1038/sj.onc.1201698 9582011
-
(1998)
Oncogene
, vol.16
, pp. 1643-1648
-
-
Yuan, Z.M.1
Utsugisawa, T.2
Ishiko, T.3
Nakada, S.4
Huang, Y.5
-
34
-
-
80053909804
-
Regulated binding of Importin-α to protein kinase-Cδ in response to apoptotic signaling facilitates nuclear import
-
Adwan TS, Ohm AM, Jones DNM, Humphries MJ, Reyland ME, (2011) Regulated binding of Importin-α to protein kinase-Cδ in response to apoptotic signaling facilitates nuclear import, J Biol Chem, 286, 35716–35724. doi: 10.1074/jbc.M111.255950 21865164
-
(2011)
J Biol Chem
, vol.286
, pp. 35716-35724
-
-
Adwan, T.S.1
Ohm, A.M.2
Jones, D.N.M.3
Humphries, M.J.4
Reyland, M.E.5
-
35
-
-
0034875172
-
Involvement of protein kinase C-δ in DNA damage-induced apoptosis
-
Basu A, Woolard MD, Johnson CL, , (2001) Involvement of protein kinase C-δ in DNA damage-induced apoptosis, Cell Death Differ, 8, 899–908. doi: 10.1038/sj.cdd.4400885 11526445
-
(2001)
Cell Death Differ
, vol.8
, pp. 899-908
-
-
Basu, A.1
Woolard, M.D.2
Johnson, C.L.3
-
36
-
-
46049090743
-
Nuclear trafficking of pro-apoptotic kinases in response to DNA damage
-
Yoshida K, (2008): Nuclear trafficking of pro-apoptotic kinases in response to DNA damage, Trends Mol Med, 14, 305–313. doi: 10.1016/j.molmed.2008.05.003 18539531
-
(2008)
Trends Mol Med
, vol.14
, pp. 305-313
-
-
Yoshida, K.1
-
37
-
-
33845518305
-
DNA repair in the neurons: so if they don’t divide what’s to repair
-
Fishel ML, Vasko MR, Kelly MR, (2007) DNA repair in the neurons: so if they don’t divide what’s to repair, Mutat Res, 614, 24–36. doi: 10.1016/j.mrfmmm.2006.06.007 16879837
-
(2007)
Mutat Res
, vol.614
, pp. 24-36
-
-
Fishel, M.L.1
Vasko, M.R.2
Kelly, M.R.3
-
38
-
-
34247156564
-
DNA repair, mitochondria, and neurodegeneration
-
Weissman L, de souza-Pinto NC, Stevnsner T, Bohr VA, (2007) DNA repair, mitochondria, and neurodegeneration, Neuroscience, 145, 1318–1329. doi: 10.1016/j.neuroscience.2006.08.061 17092652
-
(2007)
Neuroscience
, vol.145
, pp. 1318-1329
-
-
Weissman, L.1
de souza-Pinto, N.C.2
Stevnsner, T.3
Bohr, V.A.4
-
39
-
-
34247127167
-
Mitochondrial DNA repair: a critical player in the response of cells of the CNS to genotoxic insults
-
LeDoux SP, Druzhyna NM, Hollensworth SB, Harrison JF, Wilson GL, (2007) Mitochondrial DNA repair: a critical player in the response of cells of the CNS to genotoxic insults, Neuroscience, 145, 1249–1259. doi: 10.1016/j.neuroscience.2006.10.002 17097236
-
(2007)
Neuroscience
, vol.145
, pp. 1249-1259
-
-
LeDoux, S.P.1
Druzhyna, N.M.2
Hollensworth, S.B.3
Harrison, J.F.4
Wilson, G.L.5
-
40
-
-
33745013111
-
Oxidative stress and neurodegeneration: where are we now?
-
Halliwell B, (2006) Oxidative stress and neurodegeneration: where are we now? J Neurochem, 97, 1634–1658. doi: 10.1111/j.1471-4159.2006.03907.x 16805774
-
(2006)
J Neurochem
, vol.97
, pp. 1634-1658
-
-
Halliwell, B.1
-
41
-
-
33845395850
-
Mechanism of cell death in oxidative stress
-
Ryter SW, Kim HP, Hoetzel A, Park JW, Nakahira K, et al, (2007) Mechanism of cell death in oxidative stress, Antioxid Redox Signal, 9, 49–89. doi: 10.1089/ars.2007.9.49 17115887
-
(2007)
Antioxid Redox Signal
, vol.9
, pp. 49-89
-
-
Ryter, S.W.1
Kim, H.P.2
Hoetzel, A.3
Park, J.W.4
Nakahira, K.5
-
42
-
-
34247148449
-
Base excision repair and the central nervous system
-
Wilson DM, McNeil DR, 3rd, (2007) Base excision repair and the central nervous system, Neuroscience, 145, 1187–1200. doi: 10.1016/j.neuroscience.2006.07.011 16934943
-
(2007)
Neuroscience
, vol.145
, pp. 1187-1200
-
-
Wilson, D.M.1
McNeil, D.R.2
-
43
-
-
34247159940
-
Responding to DNA double strand breaks in the nervous system
-
Lee Y, McKinnon PJ, (2007) Responding to DNA double strand breaks in the nervous system, Neuroscience, 145, 1365–1374. doi: 10.1016/j.neuroscience.2006.07.026 16934412
-
(2007)
Neuroscience
, vol.145
, pp. 1365-1374
-
-
Lee, Y.1
McKinnon, P.J.2
-
44
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutation in a new HIT superfamily gene
-
Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, et al, (2001) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutation in a new HIT superfamily gene, Nat Genet, 29, 184–8. doi: 10.1038/ng1001-184 11586299
-
(2001)
Nat Genet
, vol.29
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
Iwabuchi, K.4
Uekawa, K.5
-
45
-
-
0034785531
-
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
-
Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, et al, (2001) The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, Nat Genet, 29, 189–93. doi: 10.1038/ng1001-189 11586300
-
(2001)
Nat Genet
, vol.29
, pp. 189-193
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
Kozuka, N.4
Uchida, E.5
-
46
-
-
18644386254
-
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
-
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, et al, (2002) Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy, Nat Genet, 32, 267–72. doi: 10.1038/ng987 12244316
-
(2002)
Nat Genet
, vol.32
, pp. 267-272
-
-
Takashima, H.1
Boerkoel, C.F.2
John, J.3
Saifi, G.M.4
Salih, M.A.5
-
47
-
-
84884902129
-
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons
-
Wang W-Y, Pan L, Su SC, Quinn EJ, Sasaki M, et al, (2013) Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons, Nat Neurosci, 16, 1383–1391. doi: 10.1038/nn.3514 24036913
-
(2013)
Nat Neurosci
, vol.16
, pp. 1383-1391
-
-
Wang, W.-Y.1
Pan, L.2
Su, S.C.3
Quinn, E.J.4
Sasaki, M.5
-
48
-
-
77649188409
-
Mutation in PNKP cause microcepgaly, seizures and defects in DNA repair
-
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, et al, (2010) Mutation in PNKP cause microcepgaly, seizures and defects in DNA repair, Nat Genet, 42, 245–9. doi: 10.1038/ng.526 20118933
-
(2010)
Nat Genet
, vol.42
, pp. 245-249
-
-
Shen, J.1
Gilmore, E.C.2
Marshall, C.A.3
Haddadin, M.4
Reynolds, J.J.5
-
49
-
-
84873720231
-
Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations
-
Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, et al, (2013) Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations, Neurogenetics, 14, 43–51. doi: 10.1007/s10048-012-0351-8 23224214
-
(2013)
Neurogenetics
, vol.14
, pp. 43-51
-
-
Poulton, C.1
Oegema, R.2
Heijsman, D.3
Hoogeboom, J.4
Schot, R.5
-
50
-
-
84864953114
-
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair
-
Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW, (2012) Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair, Nucleic Acids Res, 40, 6608–19. doi: 10.1093/nar/gks318 22508754
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 6608-6619
-
-
Reynolds, J.J.1
Walker, A.K.2
Gilmore, E.C.3
Walsh, C.A.4
Caldecott, K.W.5
-
51
-
-
84867833898
-
Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis
-
Liu W, Jiang F, Bi X, Zhang YQ, (2012) Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis, Hum Mol Genet, 21, 4655–4668. doi: 10.1093/hmg/dds307 22843500
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4655-4668
-
-
Liu, W.1
Jiang, F.2
Bi, X.3
Zhang, Y.Q.4
-
52
-
-
84900333592
-
A chromatin-dependent role of the Fragile X mental retardation protein FMRP in the DNA damage response
-
Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, Stutzer A, et al, (2014) A chromatin-dependent role of the Fragile X mental retardation protein FMRP in the DNA damage response, Cell, 157, 869–881. doi: 10.1016/j.cell.2014.03.040 24813610
-
(2014)
Cell
, vol.157
, pp. 869-881
-
-
Alpatov, R.1
Lesch, B.J.2
Nakamoto-Kinoshita, M.3
Blanco, A.4
Chen, S.5
Stutzer, A.6
-
53
-
-
84907838387
-
A feed-forward mechanism involving Drosophila fragile X mental retardation protein triggers a replication stress-induced DNA damage response
-
Zhang W, Cheng Y, Li Y, Chen Z, Jin P, Chen D, (2014) A feed-forward mechanism involving Drosophila fragile X mental retardation protein triggers a replication stress-induced DNA damage response, Hum Mol Genet, 23, 5188–5196. doi: 10.1093/hmg/ddu241 24833720
-
(2014)
Hum Mol Genet
, vol.23
, pp. 5188-5196
-
-
Zhang, W.1
Cheng, Y.2
Li, Y.3
Chen, Z.4
Jin, P.5
Chen, D.6
-
54
-
-
0033520166
-
Oxidative damage to mitochondrial DNA in Huntington disease
-
Polidori MC, Mecocci P, Browne SE, Senin U, Beal MF, (1999) Oxidative damage to mitochondrial DNA in Huntington disease, Neurosci Lett, 272, 53–6. doi: 10.1016/S0304-3940(99)00578-9 10507541
-
(1999)
Neurosci Lett
, vol.272
, pp. 53-56
-
-
Polidori, M.C.1
Mecocci, P.2
Browne, S.E.3
Senin, U.4
Beal, M.F.5
-
55
-
-
0034283878
-
Linking DNA damage and neurodegeneration
-
Rolig RL, McKinnon PJ, (2000) Linking DNA damage and neurodegeneration, Trends Neurosci, 23, 417–24. doi: 10.1016/S0166-2236(00)01625-8 10941191
-
(2000)
Trends Neurosci
, vol.23
, pp. 417-424
-
-
Rolig, R.L.1
McKinnon, P.J.2
-
56
-
-
43249118458
-
DNA damage and repair: Relevance to mechanism of neurodegeneration
-
Martin LJ, (2008) DNA damage and repair: Relevance to mechanism of neurodegeneration, J of Neuropathol Exp Neurol, 67, 377–387. doi: 10.1097/NEN.0b013e31816ff780
-
(2008)
J of Neuropathol Exp Neurol
, vol.67
, pp. 377-387
-
-
Martin, L.J.1
-
57
-
-
62149107892
-
DNA damage and repair in Alzheimer disease
-
Coppede F, Migliore L, (2009) DNA damage and repair in Alzheimer disease, Curr Alzheimer Res, 6, 36–47. doi: 10.2174/156720509787313970 19199873
-
(2009)
Curr Alzheimer Res
, vol.6
, pp. 36-47
-
-
Coppede, F.1
Migliore, L.2
-
58
-
-
84878920856
-
Lewy body pathology is associated with mitochondrial DNA damage in Parkinson disease
-
Muller SK, Bender A, Laub C, Hogen T, Schlaudraff F, et al, (2013) Lewy body pathology is associated with mitochondrial DNA damage in Parkinson disease, Neurobiol Aging, 34, 2231–3. doi: 10.1016/j.neurobiolaging.2013.03.016 23566333
-
(2013)
Neurobiol Aging
, vol.34
, pp. 2231-2233
-
-
Muller, S.K.1
Bender, A.2
Laub, C.3
Hogen, T.4
Schlaudraff, F.5
-
59
-
-
77956876340
-
The cell death machinery governed by the p53 tumor suppressor in response to DNA damage
-
Yoshida K, Miki Y, (2010) The cell death machinery governed by the p53 tumor suppressor in response to DNA damage, Cancer Science, 101, 831–5. doi: 10.1111/j.1349-7006.2009.01488.x 20132225
-
(2010)
Cancer Science
, vol.101
, pp. 831-835
-
-
Yoshida, K.1
Miki, Y.2
-
60
-
-
0034640281
-
Noxa, a BH3-only member of the Bcl-2 family and candidate mediator of p53-induced apoptosis
-
Oda E, Ohki R, Murasawa H, Nemoto J, Shibue T, et al, (2000) Noxa, a BH3-only member of the Bcl-2 family and candidate mediator of p53-induced apoptosis, Science, 288, 1053–8. doi: 10.1126/science.288.5468.1053 10807576
-
(2000)
Science
, vol.288
, pp. 1053-1058
-
-
Oda, E.1
Ohki, R.2
Murasawa, H.3
Nemoto, J.4
Shibue, T.5
-
61
-
-
1542353401
-
Control of apoptosis by p53
-
Fridman JS, Lowe SW, (2003) Control of apoptosis by p53, Oncogene, 22, 9030–9040. doi: 10.1038/sj.onc.1207116 14663481
-
(2003)
Oncogene
, vol.22
, pp. 9030-9040
-
-
Fridman, J.S.1
Lowe, S.W.2
-
62
-
-
0842278331
-
Direct activation of BAX by p53 mediates mitochondrial membrane permeabilization and apoptosis
-
Chipuk JE, Kuwana T, Bouchier-Hayes L, Droin NM, Newmeyer DD, et al, (2004) Direct activation of BAX by p53 mediates mitochondrial membrane permeabilization and apoptosis, Science, 303, 1010–1014. doi: 10.1126/science.1092734 14963330
-
(2004)
Science
, vol.303
, pp. 1010-1014
-
-
Chipuk, J.E.1
Kuwana, T.2
Bouchier-Hayes, L.3
Droin, N.M.4
Newmeyer, D.D.5
-
63
-
-
0141818136
-
Integral role of Noxa in p53-mediated apoptotic response
-
Shibue T, Takeda K, Oda E, Tanaka H, Murasawa H, et al, (2003) Integral role of Noxa in p53-mediated apoptotic response, Genes Dev, 17, 2233–2238. doi: 10.1101/gad.1103603 12952892
-
(2003)
Genes Dev
, vol.17
, pp. 2233-2238
-
-
Shibue, T.1
Takeda, K.2
Oda, E.3
Tanaka, H.4
Murasawa, H.5
-
64
-
-
0035265686
-
PUMA, a novel proapoptotic gene, is induced by p53
-
Nakano K, Vousden KH, (2001) PUMA, a novel proapoptotic gene, is induced by p53, Mol Cell, 7, 683–694. doi: 10.1016/S1097-2765(01)00214-3 11463392
-
(2001)
Mol Cell
, vol.7
, pp. 683-694
-
-
Nakano, K.1
Vousden, K.H.2
-
65
-
-
0034616945
-
Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition
-
Du C, Fang M, Li L, Wang X, (2000) Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition, Cell, 102, 33–42. doi: 10.1016/S0092-8674(00)00008-8 10929711
-
(2000)
Cell
, vol.102
, pp. 33-42
-
-
Du, C.1
Fang, M.2
Li, L.3
Wang, X.4
-
66
-
-
7744244181
-
p53 activation domain 1 is essential for PUMA upregulation and p53-mediated neuronal cell death
-
Cregan SP, Arbour NA, Maclaurin JG, Callaghan SM, Fortin A, et al, (2004) p53 activation domain 1 is essential for PUMA upregulation and p53-mediated neuronal cell death, J Neurosci, 24, 10003–10012. doi: 10.1523/JNEUROSCI.2114-04.2004 15525786
-
(2004)
J Neurosci
, vol.24
, pp. 10003-10012
-
-
Cregan, S.P.1
Arbour, N.A.2
Maclaurin, J.G.3
Callaghan, S.M.4
Fortin, A.5
-
67
-
-
33646756222
-
Dissecting p53-dependent apoptosis
-
Chipuk JE, Green DR, (2006) Dissecting p53-dependent apoptosis, Cell Death Differ, 13, 94–1002. doi: 10.1038/sj.cdd.4401908
-
(2006)
Cell Death Differ
, vol.13
, pp. 94-1002
-
-
Chipuk, J.E.1
Green, D.R.2
-
68
-
-
0031795922
-
Inactivation of DNA-dependent protein kinase by protein kinase C-δ: implication for apoptosis
-
Bharti A, Kraeft SK, Gounder M, Pandey P, Jin S, et al, (1998) Inactivation of DNA-dependent protein kinase by protein kinase C-δ: implication for apoptosis, Mol Cell Biol, 18, 6719–6728. 9774685
-
(1998)
Mol Cell Biol
, vol.18
, pp. 6719-6728
-
-
Bharti, A.1
Kraeft, S.K.2
Gounder, M.3
Pandey, P.4
Jin, S.5
-
69
-
-
77649144557
-
Repeat instability as the basis for human diseases and as a potential target for therapy
-
Castel AL, Cleary JD, Pearson CE, (2010) Repeat instability as the basis for human diseases and as a potential target for therapy, Nat Rev, 11, 165–170. doi: 10.1038/nrm2854
-
(2010)
Nat Rev
, vol.11
, pp. 165-170
-
-
Castel, A.L.1
Cleary, J.D.2
Pearson, C.E.3
-
70
-
-
84894519258
-
Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but not altered by polyglutamine disease protein expression or age
-
Mason AG, Tome S, Simard JP, Libby RT, Bammler TK, Beyer RP, et al (2014) Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but not altered by polyglutamine disease protein expression or age, Hum Mol Genet, 23, 1606–1618. doi: 10.1093/hmg/ddt551 24191263
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1606-1618
-
-
Mason, A.G.1
Tome, S.2
Simard, J.P.3
Libby, R.T.4
Bammler, T.K.5
Beyer, R.P.6
|