-
1
-
-
0034790947
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
-
DOI 10.1038/ng1001-184
-
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. (Pubitemid 32952656)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 184-188
-
-
Date, H.1
Onodera, O.2
Tanaka, H.3
Iwabuchi, K.4
Uekawa, K.5
Igarashi, S.6
Koike, R.7
Hiroi, T.8
Yuasa, T.9
Awaya, Y.10
Sakai, T.11
Takahashi, T.12
Nagatomo, H.13
Sekijima, Y.14
Kawachi, I.15
Takiyama, Y.16
Nishizawa, M.17
Fukuhara, N.18
Saito, K.19
Sugano, S.20
Tsuji, S.21
more..
-
2
-
-
0034785531
-
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
-
3
-
-
33749821755
-
The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates
-
DOI 10.1038/nature05164, PII NATURE05164
-
Ahel I, et al. (2006) The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates. Nature 443:713-716. (Pubitemid 44564716)
-
(2006)
Nature
, vol.443
, Issue.7112
, pp. 713-716
-
-
Ahel, I.1
Rass, U.2
El-Khamisy, S.F.3
Katyal, S.4
Clements, P.M.5
McKinnon, P.J.6
Caldecott, K.W.7
West, S.C.8
-
4
-
-
0037162392
-
Hint, Fhit, and GalT: Function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases
-
Brenner C (2002) Hint, Fhit, and GalT: Function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. Biochemistry 41:9003-9014.
-
(2002)
Biochemistry
, vol.41
, pp. 9003-9014
-
-
Brenner, C.1
-
5
-
-
33744937625
-
Aprataxin forms a discrete branch in the HIT (Histidine Triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities
-
DOI 10.1074/jbc.M507946200
-
Kijas AW, Harris JL, Harris JM, Lavin MF (2006) Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities. J Biol Chem 281:13939-13948. (Pubitemid 43848319)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.20
, pp. 13939-13948
-
-
Kijas, A.W.1
Harris, J.L.2
Harris, J.M.3
Lavin, M.F.4
-
6
-
-
57749110749
-
Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin
-
Rass U, Ahel I, West SC (2008) Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin. J Biol Chem 283:33994-34001.
-
(2008)
J Biol Chem
, vol.283
, pp. 33994-34001
-
-
Rass, U.1
Ahel, I.2
West, S.C.3
-
7
-
-
48449089694
-
Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis
-
D'Arrigo S, et al. (2008) Ataxia with oculomotor apraxia type 1 (AOA1): Clinical and neuropsychological features in 2 new patients and differential diagnosis. J Child Neurol 23:895-900.
-
(2008)
J Child Neurol
, vol.23
, pp. 895-900
-
-
D'Arrigo, S.1
-
8
-
-
34547674554
-
A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization
-
DOI 10.1016/j.jns.2007.05.015, PII S0022510X07003498
-
Ferrarini M, et al. (2007) A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization. J Neurol Sci 260:219-224. (Pubitemid 47212231)
-
(2007)
Journal of the Neurological Sciences
, vol.260
, Issue.1-2
, pp. 219-224
-
-
Ferrarini, M.1
Squintani, G.2
Cavallaro, T.3
Ferrari, S.4
Rizzuto, N.5
Fabrizi, G.M.6
-
9
-
-
0344875066
-
Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies
-
DOI 10.1093/brain/awg283
-
Le Ber I, et al. (2003) Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies. Brain 126:2761-2772. (Pubitemid 37463094)
-
(2003)
Brain
, vol.126
, Issue.12
, pp. 2761-2772
-
-
Le, B.I.1
Moreira, M.-C.2
Rivaud-Pechoux, S.3
Chamayou, C.4
Ochsner, F.5
Kuntzer, T.6
Tardieu, M.7
Said, G.8
Habert, M.-O.9
Demarquay, G.10
Tannier, C.11
Beis, J.-M.12
Brice, A.13
Koenig, M.14
Durr, A.15
-
10
-
-
37248998775
-
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia
-
DOI 10.1159/000109256
-
Sugawara M, et al. (2008) Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Eur Neurol 59:18-23. (Pubitemid 350277255)
-
(2008)
European Neurology
, vol.59
, Issue.1-2
, pp. 18-23
-
-
Sugawara, M.1
Wada, C.2
Okawa, S.3
Kobayashi, M.4
Sageshima, M.5
Imota, T.6
Toyoshima, I.7
-
11
-
-
0037432279
-
Phenotypic variability of aprataxin gene mutations
-
Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM (2003) Phenotypic variability of aprataxin gene mutations. Neurology 60:868-870. (Pubitemid 36297377)
-
(2003)
Neurology
, vol.60
, Issue.5
, pp. 868-870
-
-
Tranchant, C.1
Fleury, M.2
Moreira, M.C.3
Koenig, M.4
Warter, J.M.5
-
12
-
-
38849127592
-
Complete deletion of the aprataxin gene: Ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit [9]
-
DOI 10.1136/jnnp.2007.127233
-
Yoon G, et al. (2008) Complete deletion of the aprataxin gene: Ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit. J Neurol Neurosurg Psychiatry 79:234-236. (Pubitemid 351236573)
-
(2008)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.79
, Issue.2
, pp. 234-236
-
-
Yoon, G.1
Westmacott, R.2
MacMillan, L.3
Quercia, N.4
Koutsou, P.5
Georghiou, A.6
Christodoulou, K.7
Banwell, B.8
-
13
-
-
33746164726
-
Spinocerebellar ataxia with ocular motor apraxia and DNA repair
-
Onodera O (2006) Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology 26:361-367.
-
(2006)
Neuropathology
, vol.26
, pp. 361-367
-
-
Onodera, O.1
-
14
-
-
34248181247
-
Autosomal recessive cerebellar ataxias
-
Palau F, Espinós C (2006) Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 1:47.
-
(2006)
Orphanet J Rare Dis
, vol.1
, pp. 47
-
-
Palau, F.1
Espinós, C.2
-
15
-
-
77954627973
-
Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol
-
Richardson DR, et al. (2010) Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol. Proc Natl Acad Sci USA 107: 10775-10782.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 10775-10782
-
-
Richardson, D.R.1
-
16
-
-
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.
-
(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
-
17
-
-
0033544724
-
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. (Pubitemid 30004634)
-
(1999)
Cell
, vol.99
, Issue.6
, pp. 577-587
-
-
Stewart, G.S.1
Maser, R.S.2
Stankovic, T.3
Bressan, D.A.4
Kaplan, M.I.5
Jaspers, N.G.J.6
Raams, A.7
Byrd, P.J.8
Petrini, J.H.J.9
Taylor, A.M.R.10
-
18
-
-
37249026153
-
Xeroderma pigmentosum: A glimpse into nucleotide excision repair, genetic instability, and cancer
-
Dworaczek H, Xiao W (2007) Xeroderma pigmentosum: A glimpse into nucleotide excision repair, genetic instability, and cancer. Crit Rev Oncog 13:159-177. (Pubitemid 350274293)
-
(2007)
Critical Reviews in Oncogenesis
, vol.13
, Issue.2
, pp. 159-177
-
-
Dworaczek, H.1
Xiao, W.2
-
19
-
-
4544341920
-
The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4
-
DOI 10.1016/j.dnarep.2004.06.017, PII S1568786404002095
-
Clements PM, et al. (2004) The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4. DNA Repair (Amst) 3:1493-1502. (Pubitemid 39221747)
-
(2004)
DNA Repair
, vol.3
, Issue.11
, pp. 1493-1502
-
-
Clements, P.M.1
Breslin, C.2
Deeks, E.D.3
Byrd, P.J.4
Ju, L.5
Bieganowski, P.6
Brenner, C.7
Moreira, M.-C.8
Taylor, A.M.R.9
Caldecott, K.W.10
-
20
-
-
67349107467
-
Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin
-
El-Khamisy SF, et al. (2009) Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin. DNA Repair (Amst) 8:760-766.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 760-766
-
-
El-Khamisy, S.F.1
-
21
-
-
77950464989
-
CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response
-
Becherel OJ, et al. (2010) CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. Nucleic Acids Res 38:1489-1503.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 1489-1503
-
-
Becherel, O.J.1
-
22
-
-
2542612903
-
Aprataxin, a novel protein that protects against genotoxic stress
-
DOI 10.1093/hmg/ddh122
-
Gueven N, et al. (2004) Aprataxin, a novel protein that protects against genotoxic stress. Hum Mol Genet 13:1081-1093. (Pubitemid 38702194)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.10
, pp. 1081-1093
-
-
Gueven, N.1
Becherel, O.J.2
Kijas, A.W.3
Chen, P.4
Howe, O.5
Rudolpg, J.H.6
Gatti, R.7
Date, H.8
Onodera, O.9
Taucher-Scholz, G.10
Lavin, M.F.11
-
23
-
-
70349978979
-
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage
-
Harris JL, et al. (2009) Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. Hum Mol Genet 18:4102-4117.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4102-4117
-
-
Harris, J.L.1
-
24
-
-
33847645440
-
DNA single-strand break repair is impaired in aprataxin-related ataxia
-
DOI 10.1002/ana.21078
-
Hirano M, et al. (2007) DNA single-strand break repair is impaired in aprataxin-related ataxia. Ann Neurol 61:162-174. (Pubitemid 46363843)
-
(2007)
Annals of Neurology
, vol.61
, Issue.2
, pp. 162-174
-
-
Hirano, M.1
Yamamoto, A.2
Mori, T.3
Lan, L.4
Iwamoto, T.-A.5
Aoki, M.6
Shimada, K.7
Furiya, Y.8
Kariya, S.9
Asai, H.10
Yasui, A.11
Nishiwaki, T.12
Imoto, K.13
Kobayashi, N.14
Kiriyama, T.15
Nagata, T.16
Konishi, N.17
Itoyama, Y.18
Ueno, S.19
-
25
-
-
4544314723
-
A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment
-
DOI 10.1128/MCB.24.19.8356-8365.2004
-
Luo H, et al. (2004) A new XRCC1-containing complex and its role in cellular survival of methyl methanesulfonate treatment. Mol Cell Biol 24:8356-8365. (Pubitemid 39245058)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.19
, pp. 8356-8365
-
-
Luo, H.1
Chan, D.W.2
Yang, T.3
Rodriguez, M.4
Chen, B.P.-C.5
Leng, M.6
Mu, J.-J.7
Chen, D.8
Songyang, Z.9
Wang, Y.10
Qin, J.11
-
26
-
-
77149172083
-
Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging
-
Kamenisch Y, et al. (2010) Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. J Exp Med 207:379-390.
-
(2010)
J Exp Med
, vol.207
, pp. 379-390
-
-
Kamenisch, Y.1
-
27
-
-
77954436746
-
Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane
-
Aamann MD, et al. (2010) Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane. FASEB J 24:2334-2346.
-
(2010)
FASEB J
, vol.24
, pp. 2334-2346
-
-
Aamann, M.D.1
-
28
-
-
49449102611
-
Removal of oxidative DNA damage via FEN1-dependent long-patch base excision repair in human cell mitochondria
-
Liu P, et al. (2008) Removal of oxidative DNA damage via FEN1-dependent long-patch base excision repair in human cell mitochondria. Mol Cell Biol 28:4975-4987.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 4975-4987
-
-
Liu, P.1
-
29
-
-
0037069933
-
Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B
-
DOI 10.1038/sj.onc.1205994
-
Stevnsner T, et al. (2002) Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. Oncogene 21:8675-8682. (Pubitemid 36132388)
-
(2002)
Oncogene
, vol.21
, Issue.57
, pp. 8675-8682
-
-
Stevnsner, T.1
Nyaga, S.2
De Souza-Pinto, N.C.3
Van Der, H.G.T.J.4
Gorgels, T.G.M.F.5
Hogue, B.A.6
Thorslund, T.7
Bohr, V.A.8
-
31
-
-
56049088295
-
Coenzyme Q10 and vitamin e deficiency in Friedreich's ataxia: Predictor of efficacy of vitamin e and coenzyme Q10 therapy
-
Cooper JM, Korlipara LV, Hart PE, Bradley JL, Schapira AH (2008) Coenzyme Q10 and vitamin E deficiency in Friedreich's ataxia: Predictor of efficacy of vitamin E and coenzyme Q10 therapy. Eur J Neurol 15:1371-1379.
-
(2008)
Eur J Neurol
, vol.15
, pp. 1371-1379
-
-
Cooper, J.M.1
Korlipara, L.V.2
Hart, P.E.3
Bradley, J.L.4
Schapira, A.H.5
-
32
-
-
33846446004
-
Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1
-
DOI 10.1212/01.wnl.0000252366.10731.43, PII 0000611420070123000015
-
Le Ber I, et al. (2007) Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1. Neurology 68:295-297. (Pubitemid 46148344)
-
(2007)
Neurology
, vol.68
, Issue.4
, pp. 295-297
-
-
Le, B.I.1
Dubourg, O.2
Benoist, J.-F.3
Jardel, C.4
Mochel, F.5
Koenig, M.6
Brice, A.7
Lombes, A.8
Durr, A.9
-
33
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii CM, et al. (2005) Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 64:539-541. (Pubitemid 40189878)
-
(2005)
Neurology
, vol.64
, Issue.3
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
Akman, H.O.4
Mootha, V.K.5
DiMauro, S.6
Hirano, M.7
-
34
-
-
70350754464
-
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin
-
Asai H, et al. (2009) Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. Hum Mol Genet 18:3533-3543.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3533-3543
-
-
Asai, H.1
-
36
-
-
34547138954
-
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′- phosphoglycolate ends
-
DOI 10.1093/nar/gkm158
-
Takahashi T, et al. (2007) Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends. Nucleic Acids Res 35:3797-3809. (Pubitemid 47244672)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.11
, pp. 3797-3809
-
-
Takahashi, T.1
Tada, M.2
Igarashi, S.3
Koyama, A.4
Date, H.5
Yokoseki, A.6
Shiga, A.7
Yoshida, Y.8
Tsuji, S.9
Nishizawa, M.10
Onodera, O.11
-
37
-
-
48249095920
-
Single-strand break repair and genetic disease
-
Caldecott KW (2008) Single-strand break repair and genetic disease. Nat Rev Genet 9:619-631.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 619-631
-
-
Caldecott, K.W.1
-
38
-
-
0029915525
-
Computational method to predict mitochondrially imported proteins and their targeting sequences
-
Claros MG, Vincens P (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem 241:779-786. (Pubitemid 26379380)
-
(1996)
European Journal of Biochemistry
, vol.241
, Issue.3
, pp. 779-786
-
-
Claros, M.G.1
Vincens, P.2
-
39
-
-
50849083791
-
XRCC1 protects against the lethality of induced oxidative DNA damage in nondividing neural cells
-
Kulkarni A, McNeill DR, Gleichmann M, Mattson MP, Wilson DM, 3rd (2008) XRCC1 protects against the lethality of induced oxidative DNA damage in nondividing neural cells. Nucleic Acids Res 36:5111-5121.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 5111-5121
-
-
Kulkarni, A.1
McNeill, D.R.2
Gleichmann, M.3
Mattson, M.P.4
Wilson III, D.M.5
-
40
-
-
0016720436
-
Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells
-
Wallace DC, Bunn CL, Eisenstadt JM (1975) Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells. J Cell Biol 67:174-188.
-
(1975)
J Cell Biol
, vol.67
, pp. 174-188
-
-
Wallace, D.C.1
Bunn, C.L.2
Eisenstadt, J.M.3
-
41
-
-
0037183505
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
-
Shimazaki H, et al. (2002) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations. Neurology 59:590-595. (Pubitemid 34919995)
-
(2002)
Neurology
, vol.59
, Issue.4
, pp. 590-595
-
-
Shimazaki, H.1
Takiyama, Y.2
Sakoe, K.3
Ikeguchi, K.4
Niijima, K.5
Kaneko, J.6
Namekawa, M.7
Ogawa, T.8
Date, H.9
Tsuji, S.10
Nakano, I.11
Nishizawa, M.12
-
42
-
-
38549129895
-
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1
-
Salvatore E, et al. (2008) Nigrostriatal involvement in ataxia with oculomotor apraxia type 1. J Neurol 255:45-48.
-
(2008)
J Neurol
, vol.255
, pp. 45-48
-
-
Salvatore, E.1
-
43
-
-
0242288090
-
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
-
DOI 10.1002/mds.10526
-
Sekijima Y, et al. (2003) Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. Mov Disord 18:1198-1200. (Pubitemid 37336949)
-
(2003)
Movement Disorders
, vol.18
, Issue.10
, pp. 1198-1200
-
-
Sekijima, Y.1
Hashimoto, T.2
Onodera, O.3
Date, H.4
Okano, T.5
Naito, K.6
Tsuji, S.7
Ikeda, S.-I.8
-
44
-
-
33744478401
-
Free radical theory of aging: An update. Increasing the functional life span
-
Harman D (2006) Free radical theory of aging: An update. Increasing the functional life span. Ann N Y Acad Sci 1067:10-21.
-
(2006)
Ann N Y Acad Sci
, vol.1067
, pp. 10-21
-
-
Harman, D.1
-
45
-
-
6044235634
-
Loss of function mechanism in aprataxin-related early-onset ataxia
-
DOI 10.1016/j.bbrc.2004.07.135, PII S0006291X04016286
-
Hirano M, Furiya Y, Kariya S, Nishiwaki T, Ueno S (2004) Loss of function mechanism in aprataxin-related early-onset ataxia. Biochem Biophys Res Commun 322:380-386. (Pubitemid 39490315)
-
(2004)
Biochemical and Biophysical Research Communications
, vol.322
, Issue.2
, pp. 380-386
-
-
Hirano, M.1
Furiya, Y.2
Kariya, S.3
Nishiwaki, T.4
Ueno, S.5
-
46
-
-
77953484497
-
DNA repair in mammalian mitochondria: Much more than we thought?
-
Liu P, Demple B (2010) DNA repair in mammalian mitochondria: Much more than we thought? Environ Mol Mutagen 51:417-426.
-
(2010)
Environ Mol Mutagen
, vol.51
, pp. 417-426
-
-
Liu, P.1
Demple, B.2
-
47
-
-
56049111329
-
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
-
Hakonen AH, et al. (2008) Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet 17:3822-3835.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3822-3835
-
-
Hakonen, A.H.1
-
48
-
-
69549126358
-
Mitochondrial ataxias
-
Finsterer J (2009) Mitochondrial ataxias. Can J Neurol Sci 36:543-553.
-
(2009)
Can J Neurol Sci
, vol.36
, pp. 543-553
-
-
Finsterer, J.1
-
50
-
-
77957299860
-
The mitochondrial transcription factor A functions in mitochondrial base excision repair
-
Canugovi C, et al. (2010) The mitochondrial transcription factor A functions in mitochondrial base excision repair. DNA Repair (Amst) 9:1080-1089.
-
(2010)
DNA Repair (Amst)
, vol.9
, pp. 1080-1089
-
-
Canugovi, C.1
-
51
-
-
77957010982
-
-
eds Colowick SP, Kaplan NOP (Academic, London)
-
Srere PA (1969) Methods in Enzymology, eds Colowick SP, Kaplan NOP (Academic, London), pp 3-11.
-
(1969)
Methods in Enzymology
, pp. 3-11
-
-
Srere, P.A.1
-
52
-
-
0036355070
-
-
ed Copeland WC (Humana Press, Totowa, NJ)
-
Santos JH, Mandavilli BS, Van Houten B (2002) Mitochondrial DNA: Methods and Protocols, ed Copeland WC (Humana Press, Totowa, NJ), pp 159-176.
-
(2002)
Mitochondrial DNA: Methods and Protocols
, pp. 159-176
-
-
Santos, J.H.1
Mandavilli, B.S.2
Van Houten, B.3
-
53
-
-
67349125744
-
Novel DNA mismatch-repair activity involving YB-1 in human mitochondria
-
de Souza-Pinto NC, et al. (2009) Novel DNA mismatch-repair activity involving YB-1 in human mitochondria. DNA Repair (Amst) 8:704-719.
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 704-719
-
-
De Souza-Pinto, N.C.1
|