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Volumn 685, Issue , 2010, Pages 21-33

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE 3' PHOSPHATE; ADENOSINE PHOSPHATE; ALBUMIN; APRATAXIN PROTEIN; GENE PRODUCT; SINGLE STRANDED DNA; UNCLASSIFIED DRUG; APTX PROTEIN, HUMAN; DNA BINDING PROTEIN; MUTAGENIC AGENT; NUCLEAR PROTEIN; X-RAY REPAIR CROSS COMPLEMENTING PROTEIN 1; XRCC1 PROTEIN;

EID: 77955872439     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-6448-9_3     Document Type: Article
Times cited : (8)

References (87)
  • 2
    • 0035009313 scopus 로고    scopus 로고
    • Mammalian DNA single-strand break repair: An X-ra(y)ted affair
    • DOI 10.1002/bies.1063
    • Caldecott KW. Mammalian DNA single-strand break repair: An X-ra(y)ted affair. Bioessays 2001; 23:447-455. (Pubitemid 32453974)
    • (2001) BioEssays , vol.23 , Issue.5 , pp. 447-455
    • Caldecott, K.W.1
  • 3
    • 0041378046 scopus 로고    scopus 로고
    • XRCC1 and DNA strand break repair
    • DOI 10.1016/S1568-7864(03)00118-6
    • Caldecott KW. XRCC1 and DNA strand break repair. DNA Repair (Amst) 2003; 2:955-969. (Pubitemid 37088158)
    • (2003) DNA Repair , vol.2 , Issue.9 , pp. 955-969
    • Caldecott, K.W.1
  • 4
    • 3242883361 scopus 로고    scopus 로고
    • DNA single-strand breaks and neurodegeneration
    • DOI 10.1016/j.dnarep.2004.04.011, PII S1568786404001429
    • Caldecott KW. DNA single-strand breaks and neurodegeneration. DNA Repair (Amst) 2004; 3:875-882. (Pubitemid 38997929)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 875-882
    • Caldecott, K.W.1
  • 5
    • 48249095920 scopus 로고    scopus 로고
    • Single-strand break repair and genetic disease
    • Caldecott KW. Single-strand break repair and genetic disease. Nat Rev Genet 2008; 9:619-631.
    • (2008) Nat Rev Genet , vol.9 , pp. 619-631
    • Caldecott, K.W.1
  • 11
    • 18644386254 scopus 로고    scopus 로고
    • Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
    • Takashima H, Boerkoel CF, John J et al. Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 2002; 32:267-272.
    • (2002) Nat Genet , vol.32 , pp. 267-272
    • Takashima, H.1    Boerkoel, C.F.2    John, J.3
  • 12
    • 33749616036 scopus 로고    scopus 로고
    • TDP1-dependent DNA single-strand break repair and neurodegeneration
    • DOI 10.1093/mutage/gel024
    • El-Khamisy SF, Caldecott KW. TDP1-dependent DNA single-strand break repair and neurodegeneration. Mutagenesis 2006; 21:219-224. (Pubitemid 44543333)
    • (2006) Mutagenesis , vol.21 , Issue.4 , pp. 219-224
    • El-Khamisy, S.F.1    Caldecott, K.W.2
  • 13
    • 34247174739 scopus 로고    scopus 로고
    • DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1
    • DOI 10.1016/j.neuroscience.2006.08.048, PII S0306452206010815, Genome Dynamics and DNA Repair in the CNS
    • El-Khamisy SF, Caldecott KW. DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. Neuroscience 2007; 145:1260-1266. (Pubitemid 46602725)
    • (2007) Neuroscience , vol.145 , Issue.4 , pp. 1260-1266
    • El-Khamisy, S.F.1    Caldecott, K.W.2
  • 14
    • 61749094512 scopus 로고    scopus 로고
    • Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1
    • Reynolds JJ, El-Khamisy SF, Katyal S et al. Defective DNA ligation during short-patch single-strand break repair in ataxia oculomotor apraxia 1. Mol Cell Biol 2009; 29:1354-1362.
    • (2009) Mol Cell Biol , vol.29 , pp. 1354-1362
    • Reynolds, J.J.1    El-Khamisy, S.F.2    Katyal, S.3
  • 15
    • 79959540119 scopus 로고    scopus 로고
    • The neurology of eye movements
    • Leigh RJ, Zee DS. The neurology of eye movements. Philadelphia 1999; xi, 281.
    • (1999) Philadelphia , vol.11 , pp. 281
    • Leigh, R.J.1    Zee, D.S.2
  • 16
    • 0032885176 scopus 로고    scopus 로고
    • Ocular motor abnormalities in ataxia telangiectasia
    • DOI 10.1002/1531-8249(199909)46:3<287::AID-ANA3>3.0.CO;2-0
    • Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 1999; 46:287-295. (Pubitemid 29416265)
    • (1999) Annals of Neurology , vol.46 , Issue.3 , pp. 287-295
    • Lewis, R.F.1    Lederman, H.M.2    Crawford, T.O.3
  • 18
    • 0000210516 scopus 로고
    • Congenital ocular motor apraxia and cerebellar degeneration- report of two cases
    • Inoue N, Izumi K, Mawatari S et al. Congenital ocular motor apraxia and cerebellar degeneration- report of two cases. Rinsho Shinkeigaku 1971; 11:855-861.
    • (1971) Rinsho Shinkeigaku , vol.11 , pp. 855-861
    • Inoue, N.1    Izumi, K.2    Mawatari, S.3
  • 19
    • 0020025422 scopus 로고
    • Three cases of autosomal recessively inherited neuropathy with cerebellar ataxia, optic atrophy and hyperlipidaemia
    • Kawasaki S, Ideta T, Ueno H et al. [Three cases of autosomal recessively inherited neuropathy with cerebellar ataxia, optic atrophy and hyperlipidemia (author's transl)]. Rinsho Shinkeigaku 1982; 22:15-23. (Pubitemid 12108862)
    • (1982) Clinical Neurology , vol.22 , Issue.1 , pp. 15-23
    • Kawasaki, S.1    Ideta, T.2    Ueno, H.3
  • 20
    • 0026980496 scopus 로고
    • A hereditary ataxia associated with hypoalbuminuria and hyperlipidemia - A variant form of Friedreich's disease or a new clinical entity?
    • Uekawa K, Yuasa T, Kawasaki S et al. [A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia-a variant form of Friedreich's disease or a new clinical entity?]. Rinsho Shinkeigaku 1992; 32:1067-1074. (Pubitemid 23124431)
    • (1992) Clinical Neurology , vol.32 , Issue.10 , pp. 1067-1074
    • Uekawa, K.1    Yuasa, T.2    Kawasaki, S.3    Makibuchi, T.4    Ideta, T.5
  • 21
    • 0029025342 scopus 로고
    • Familial early onset cerebellar ataxia with hypoalbuminemia
    • Kubota H, Sunohara N, Iwabuchi K et al. [Familial early onset cerebellar ataxia with hypoalbuminemia]. No To Shinkei 1995; 47:289-294.
    • (1995) No To Shinkei , vol.47 , pp. 289-294
    • Kubota, H.1    Sunohara, N.2    Iwabuchi, K.3
  • 22
    • 0028789193 scopus 로고
    • Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): A new disease
    • Fukuhara N, Nakajima T, Sakajiri K et al. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): A new disease. J Neurol Sci 1995; 133:140-151.
    • (1995) J Neurol Sci , vol.133 , pp. 140-151
    • Fukuhara, N.1    Nakajima, T.2    Sakajiri, K.3
  • 23
    • 0029021636 scopus 로고
    • Siblings of early onset cerebellar ataxia with hypoalbuminemia
    • Hanihara T, Kubota H, Amano N et al. [Siblings of early onset cerebellar ataxia with hypoalbuminemia]. Rinsho Shinkeigaku 1995; 35:83-86.
    • (1995) Rinsho Shinkeigaku , vol.35 , pp. 83-86
    • Hanihara, T.1    Kubota, H.2    Amano, N.3
  • 25
    • 0033997690 scopus 로고    scopus 로고
    • Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation
    • Tachi N, Kozuka N, Ohya K et al. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation. Eur Neurol 2000; 43:82-87. (Pubitemid 30114097)
    • (2000) European Neurology , vol.43 , Issue.2 , pp. 82-87
    • Tachi, N.1    Kozuka, N.2    Ohya, K.3    Chiba, S.4    Sasaki, K.5
  • 26
    • 0001378890 scopus 로고    scopus 로고
    • Early onset ataxia associated with hypoalbuminemia
    • Koike R, Tanaka H, Tsuji S. Early onset ataxia associated with hypoalbuminemia. Neurol Med 1998; 48:237-242.
    • (1998) Neurol Med , vol.48 , pp. 237-242
    • Koike, R.1    Tanaka, H.2    Tsuji, S.3
  • 29
    • 0023684502 scopus 로고
    • Ataxia-ocular motor apraxia: A syndrome mimicking ataxiatelangiectasia
    • Aicardi J, Barbosa C, Andermann E et al. Ataxia-ocular motor apraxia: A syndrome mimicking ataxiatelangiectasia. Ann Neurol 1988; 24:497-502.
    • (1988) Ann Neurol , vol.24 , pp. 497-502
    • Aicardi, J.1    Barbosa, C.2    Andermann, E.3
  • 30
    • 14644402393 scopus 로고    scopus 로고
    • Aicardi syndrome
    • DOI 10.1016/j.braindev.2003.11.011
    • Aicardi J. Aicardi syndrome. Brain Dev 2005; 27:164-171. (Pubitemid 40312026)
    • (2005) Brain and Development , vol.27 , Issue.3 SPEC. ISS. , pp. 164-171
    • Aicardi, J.1
  • 31
    • 0035178023 scopus 로고    scopus 로고
    • The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
    • DOI 10.1007/s100720100017
    • Di Donato S, Gellera C, Mariotti C. The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias. Neurol Sci 2001; 22:219-228. (Pubitemid 33085679)
    • (2001) Neurological Sciences , vol.22 , Issue.3 , pp. 219-228
    • Di Donato, S.1    Gellera, C.2    Mariotti, C.3
  • 32
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • DOI 10.1016/S1474-4422(07)70054-6, PII S1474442207700546
    • Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245-257. (Pubitemid 46228080)
    • (2007) Lancet Neurology , vol.6 , Issue.3 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 36
    • 24344472210 scopus 로고    scopus 로고
    • Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children
    • Tsao CY, Paulson G. Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children. J Child Neurol 2005; 20:619-620. (Pubitemid 41245809)
    • (2005) Journal of Child Neurology , vol.20 , Issue.7 , pp. 619-620
    • Tsao, C.Y.1    Paulson, G.2
  • 40
    • 34547674554 scopus 로고    scopus 로고
    • 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, Squintani G, Cavallaro T et al. A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: Phenotypical and genotypical characterization. J Neurol Sci 2007; 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
  • 42
    • 65849376966 scopus 로고    scopus 로고
    • Sporadic ataxias in Japan-A population-based epidemiological study
    • Tsuji S, Onodera O, Goto J et al. Sporadic ataxias in Japan-a population-based epidemiological study. Cerebellum 2008; 7:189-197.
    • (2008) Cerebellum , vol.7 , pp. 189-197
    • Tsuji, S.1    Onodera, O.2    Goto, J.3
  • 43
    • 33746168325 scopus 로고    scopus 로고
    • Clinical features of early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)
    • Yokoseki A, Date H, Onodera O. Clinical features of early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH). Neurol Med 2002; 57:108-112.
    • (2002) Neurol Med , vol.57 , pp. 108-112
    • Yokoseki, A.1    Date, H.2    Onodera, O.3
  • 45
    • 0037428228 scopus 로고    scopus 로고
    • DNA single-strand break repair and spinocerebellar ataxia
    • DOI 10.1016/S0092-8674(02)01247-3
    • Caldecott KW. DNA single-strand break repair and spinocerebellar ataxia. Cell 2003; 112:7-10. (Pubitemid 36106413)
    • (2003) Cell , vol.112 , Issue.1 , pp. 7-10
    • Caldecott, K.W.1
  • 46
    • 33746224027 scopus 로고    scopus 로고
    • Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges
    • DOI 10.1016/j.molmed.2006.05.005, PII S1471491406001122
    • Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: Progress and challenges. Trends Mol Med 2006; 12:306-316. (Pubitemid 44094291)
    • (2006) Trends in Molecular Medicine , vol.12 , Issue.7 , pp. 306-316
    • Kuzmiak, H.A.1    Maquat, L.E.2
  • 49
    • 20444419381 scopus 로고    scopus 로고
    • Disease-associated mutations inactivate AMP-lysine hydrolase activity of aprataxin
    • DOI 10.1074/jbc.M502889200
    • Seidle HF, Bieganowski P, Brenner C. Disease-associated mutations inactivate AMP-lysine hydrolase activity of Aprataxin. J Biol Chem 2005; 280:20927-20931. (Pubitemid 40805648)
    • (2005) Journal of Biological Chemistry , vol.280 , Issue.22 , pp. 20927-20931
    • Seidle, H.F.1    Bieganowski, P.2    Brenner, C.3
  • 50
    • 3242770584 scopus 로고    scopus 로고
    • Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia
    • DOI 10.1016/j.neulet.2004.05.034, PII S0304394004006020
    • Hirano M, Nishiwaki T, Kariya S et al. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Neurosci Lett 2004; 366:120-125. (Pubitemid 38970139)
    • (2004) Neuroscience Letters , vol.366 , Issue.2 , pp. 120-125
    • Hirano, M.1    Nishiwaki, T.2    Kariya, S.3    Furiya, Y.4    Kawahara, M.5    Ueno, S.6
  • 54
    • 31544457333 scopus 로고    scopus 로고
    • DNA repair and neurodegeneration]
    • Onodera O. [DNA repair and neurodegeneration]. Rinsho Shinkeigaku 2005; 45:979-981.
    • (2005) Rinsho Shinkeigaku , vol.45 , pp. 979-981
    • Onodera, O.1
  • 55
    • 33746164726 scopus 로고    scopus 로고
    • Spinocerebellar ataxia with ocular motor apraxia and DNA repair
    • DOI 10.1111/j.1440-1789.2006.00741.x
    • Onodera O. Spinocerebellar ataxia with ocular motor apraxia and DNA repair. Neuropathology 2006; 26:361-367. (Pubitemid 44086841)
    • (2006) Neuropathology , vol.26 , Issue.4 , pp. 361-367
    • Onodera, O.1
  • 57
    • 28444468578 scopus 로고
    • A type of congenital ocular motor apraxia presenting jerky head movements
    • Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Trans Am Acad Ophthalmol Otolaryngol 1952; 56:853-862.
    • (1952) Trans Am Acad Ophthalmol Otolaryngol , vol.56 , pp. 853-862
    • Cogan, D.G.1
  • 58
    • 0000379483 scopus 로고
    • A type of congenital ocular motor apraxia presenting jerky head movements
    • Cogan DG. A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol 1953; 36:433-441.
    • (1953) Am J Ophthalmol , vol.36 , pp. 433-441
    • Cogan, D.G.1
  • 59
    • 0017707143 scopus 로고
    • Congenital ocular motor apraxia
    • Zee DS, Yee RD, Singer HS. Congenital ocular motor apraxia. Brain 1977; 100:581-599. (Pubitemid 8250597)
    • (1977) Brain , vol.100 , Issue.3 , pp. 581-599
    • Zee, D.S.1    Yee, R.D.2    Singer, H.S.3
  • 60
    • 37248998775 scopus 로고    scopus 로고
    • 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, Wada C, Okawa S et al. 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 2008; 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
  • 61
    • 33746173829 scopus 로고    scopus 로고
    • Pathology of early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)
    • Makifuchi T, Fukuhara N. Pathology of early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH). Neurol Med 2002; 57.
    • (2002) Neurol Med , vol.57
    • Makifuchi, T.1    Fukuhara, N.2
  • 62
    • 0036092792 scopus 로고    scopus 로고
    • Purkinje cells of the cerebellar dorsal vermis: Simple-spike activity during pursuit and passive whole-body rotation
    • Shinmei Y, Yamanobe T, Fukushima J et al. Purkinje cells of the cerebellar dorsal vermis: Simple-spike activity during pursuit and passive whole-body rotation. J Neurophysiol 2002; 87:1836-1849. (Pubitemid 34670749)
    • (2002) Journal of Neurophysiology , vol.87 , Issue.4 , pp. 1836-1849
    • Shinmei, Y.1    Yamanobe, T.2    Fukushima, J.3    Fukushima, K.4
  • 63
    • 85047694913 scopus 로고    scopus 로고
    • Roles of the cerebellum in pursuit-vestibular interactions
    • DOI 10.1080/14734220309416
    • Fukushima K. Roles of the cerebellum in pursuit-vestibular interactions. Cerebellum 2003; 2:223-232. (Pubitemid 38282187)
    • (2003) Cerebellum , vol.2 , Issue.3 , pp. 223-232
    • Fukushima, K.1
  • 64
    • 0033817482 scopus 로고    scopus 로고
    • Role of the cerebellar flocculus region in cancellation of the VOR during passive whole body rotation
    • Belton T, McCrea RA. Role of the cerebellar flocculus region in cancellation of the VOR during passive whole body rotation. J Neurophysiol 2000; 84:1599-1613.
    • (2000) J Neurophysiol , vol.84 , pp. 1599-1613
    • Belton, T.1    McCrea, R.A.2
  • 65
    • 0033812340 scopus 로고    scopus 로고
    • Role of the cerebellar flocculus region in the coordination of eye and head movements during gaze pursuit
    • Belton T, McCrea RA. Role of the cerebellar flocculus region in the coordination of eye and head movements during gaze pursuit. J Neurophysiol 2000; 84:1614-1626.
    • (2000) J Neurophysiol , vol.84 , pp. 1614-1626
    • Belton, T.1    McCrea, R.A.2
  • 66
    • 0026290185 scopus 로고
    • Cerebellar control of saccadic eye movements: Its neural mechanisms and pathways
    • Noda H. Cerebellar control of saccadic eye movements: Its neural mechanisms and pathways. Jpn J Physiol 1991; 41:351-368.
    • (1991) Jpn J Physiol , vol.41 , pp. 351-368
    • Noda, H.1
  • 68
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • DOI 10.1016/j.dnarep.2004.04.010, PII S1568786404001417
    • Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amst) 2004; 3:1187-1196. (Pubitemid 38997962)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 69
    • 3242889151 scopus 로고    scopus 로고
    • Ataxia-telangiectasia-like disorder (ATLD) - Its clinical presentation and molecular basis
    • DOI 10.1016/j.dnarep.2004.04.009, PII S1568786404001405
    • Taylor AM, Groom A, Byrd PJ. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 2004; 3:1219-1225. (Pubitemid 38997965)
    • (2004) DNA Repair , vol.3 , Issue.8-9 , pp. 1219-1225
    • Taylor, A.M.R.1    Groom, A.2    Byrd, P.J.3
  • 73
    • 33645781958 scopus 로고    scopus 로고
    • Molecular genetics of inherited neuropathies
    • Takashima H. [Molecular genetics of inherited neuropathies]. Rinsho Shinkeigaku 2006; 46:1-18.
    • (2006) Rinsho Shinkeigaku , vol.46 , pp. 1-18
    • Takashima, H.1
  • 74
    • 79959541124 scopus 로고    scopus 로고
    • http://mouse.brain-map.org/welcome.do.
  • 75
    • 0037162392 scopus 로고    scopus 로고
    • Hint, Fhit, and GalT: Function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases
    • DOI 10.1021/bi025942q
    • Brenner C. Hint, Fhit, Gal T. Function, structure, evolution and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases. Biochemistry 2002; 41:9003-9014. (Pubitemid 34787256)
    • (2002) Biochemistry , vol.41 , Issue.29 , pp. 9003-9014
    • Brenner, C.1
  • 76
    • 33744937625 scopus 로고    scopus 로고
    • 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 et al. 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 2006; 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
  • 77
    • 34548614799 scopus 로고    scopus 로고
    • Defective DNA Repair and Neurodegenerative Disease
    • DOI 10.1016/j.cell.2007.08.043, PII S0092867407011415
    • Rass U, Ahel I, West SC. Defective DNA repair and neurodegenerative disease. Cell 2007; 130:991-1004. (Pubitemid 47410275)
    • (2007) Cell , vol.130 , Issue.6 , pp. 991-1004
    • Rass, U.1    Ahel, I.2    West, S.C.3
  • 82
    • 34248215322 scopus 로고    scopus 로고
    • Actions of aprataxin in multiple DNA repair pathways
    • DOI 10.1074/jbc.M611489200
    • Rass U, Ahel I, West SC. Actions of aprataxin in multiple DNA repair pathways. J Biol Chem 2007; 282:9469-9474. (Pubitemid 47104565)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.13 , pp. 9469-9474
    • Rass, U.1    Ahel, I.2    West, S.C.3
  • 83
    • 57749110749 scopus 로고    scopus 로고
    • Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin
    • Rass U, Ahel I, West SC. Molecular mechanism of DNA deadenylation by the neurological disease protein aprataxin. J Biol Chem 2008; 283:33994-34001.
    • (2008) J Biol Chem , vol.283 , pp. 33994-34001
    • Rass, U.1    Ahel, I.2    West, S.C.3
  • 84
    • 67749148968 scopus 로고    scopus 로고
    • Short-patch single-strand break repair in ataxia oculomotor apraxia-1
    • Reynolds JJ, El-Khamisy SF, Caldecott KW. Short-patch single-strand break repair in ataxia oculomotor apraxia-1. Biochem Soc Trans 2009; 37:577-581.
    • (2009) Biochem Soc Trans , vol.37 , pp. 577-581
    • Reynolds, J.J.1    El-Khamisy, S.F.2    Caldecott, K.W.3
  • 85
    • 13744253911 scopus 로고    scopus 로고
    • Deficiency in 3-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)
    • DOI 10.1093/nar/gki170
    • Zhou T, Lee JW, Tatavarthi H et al. Deficiency in 3-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res 2005; 33:289-297. (Pubitemid 40276950)
    • (2005) Nucleic Acids Research , vol.33 , Issue.1 , pp. 289-297
    • Zhou, T.1    Lee, J.W.2    Tatavarthi, H.3    Lupski, J.R.4    Valerie, K.5    Povirk, L.F.6
  • 86
    • 67349107467 scopus 로고    scopus 로고
    • Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin
    • El-Khamisy SF, Katyal S, Patel P et al. Synergistic decrease of DNA single-strand break repair rates in mouse neural cells lacking both Tdp1 and aprataxin. DNA Repair (Amst) 2009.
    • (2009) DNA Repair (Amst)
    • El-Khamisy, S.F.1    Katyal, S.2    Patel, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.