| 1 | FAM120B, SETX
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| A senataxin-associated exonuclease SAN1 is required for resistance to DNA interstrand cross-links
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| Andrews AM, McCartney HJ, Errington TM, D'Andrea AD, Macara IG.
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| Nat Commun. Jul 3;9(1):2592. doi: 10.1038/s41467-018-05008-8. 2018
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| 2 | EXOSC9, SETX
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| SETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2.
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| Richard P, Manley JL.
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| Rare Dis 2:e27744. doi: 10.4161/rdis.27744. eCollection 2014.
2014
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| 3 | AOA2, SETX
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| Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
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| Roda RH, Rinaldi C, Singh R, Schindler AB, Blackstone C.
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| J Clin Neurosci 21(9):1627-31. doi: 10.1016/j.jocn.2013.11.048. Epub 2014 May 6.
2014
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| 4 | AOA2, SETX
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| Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
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| Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.
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| Hum Mol Genet 23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.
2014
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| 5 | AOA2, SETX
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| SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
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| Nanetti L, Cavalieri S, Pensato V, Erbetta A, Pareyson D, Panzeri M, Zorzi G, Antozzi C, Moroni I, Gellera C, Brusco A, Mariotti C.
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| Orphanet J Rare Dis 8:123. doi: 10.1186/1750-1172-8-123.
2013
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| 6 | SETX
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| Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing.
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| Becherel OJ, Yeo AJ, Stellati A, Heng EY, Luff J, Suraweera AM, Woods R, Fleming J, Carrie D, McKinney K, Xu X, Deng C, Lavin MF.
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| PLoS Genet 9(4):e1003435. doi: 10.1371/journal.pgen.1003435. Epub 2013 Apr 11.
2013
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| 7 | SETX, TP53BP1
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| Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.
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| Yüce Ö, West SC.
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| Mol Cell Biol 33(2):406-17. doi: 10.1128/MCB.01195-12. Epub 2012 Nov 12.
2013
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| 8 | EXOSC9, SETX
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| A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.
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| Richard P, Feng S, Manley JL.
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| Genes Dev 27(20):2227-32. doi: 10.1101/gad.224923.113. Epub 2013 Oct 8.
2013
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| 9 | AOA2, SETX
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| Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
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| Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G.
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| Mov Disord 27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
2012
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| 10 | SETX, XRN2
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| Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.
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| Skourti-Stathaki K, Proudfoot NJ, Gromak N.
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| Mol Cell 42(6):794-805. doi: 10.1016/j.molcel.2011.04.026.
2011
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| 11 | SETX
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| Role of senataxin in DNA damage and telomeric stability.
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| De Amicis A, Piane M, Ferrari F, Fanciulli M, Delia D, Chessa L.
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| DNA Repair (Amst) 10(2):199-209. doi: 10.1016/j.dnarep.2010.10.012. Epub 2010 Nov 26.
2011
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| 12 | FGF8, SETX
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| Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.
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| Vantaggiato C, Bondioni S, Airoldi G, Bozzato A, Borsani G, Rugarli EI, Bresolin N, Clementi E, Bassi MT.
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| Brain 134(Pt 6):1808-28. doi: 10.1093/brain/awr084. Epub 2011 May 15.
2011
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| 13 | AOA2, SETX
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| Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
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| Tazir M, Ali-Pacha L, M'Zahem A, Delaunoy JP, Fritsch M, Nouioua S, Benhassine T, Assami S, Grid D, Vallat JM, Hamri A, Koenig M.
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| J Neurol Sci 278(1-2):77-81. Epub 2009 Jan 11.
2009
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| 14 | AOA2, SETX
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| Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
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| Suraweera A, Lim Y, Woods R, Birrell GW, Nasim T, Becherel OJ, Lavin MF.
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| Hum Mol Genet 18(18):3384-96. Epub 2009 Jun 10.PMID: 19515850 2009
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| 15 | AOA2, SETX
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| A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
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| Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S.
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| J Hum Genet 54(12):746-8. Epub 2009 Nov 6.PMID: 19893583 2009
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| 16 | SETX, AOA2
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| Ovarian failure in ataxia with oculomotor apraxia type 2.
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| Lynch DR, Braastad CD, Nagan N.
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| Am J Med Genet A 143(15):1775-7. 2007
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| 17 | AOA2, SETX
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| Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
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| Suraweera A, Becherel OJ, Chen P, Rundle N, Woods R, Nakamura J, Gatei M, Criscuolo C, Filla A, Chessa L, Fusser M, Epe B, Gueven N, Lavin MF.
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| J Cell Biol 177(6):969-79. Epub 2007 Jun 11.
2007
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| 18 | AOA2, SETX
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| Ataxia-oculomotor apraxia 2 patients show no increased sensitivity to ionizing radiation.
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| Nahas SA, Duquette A, Roddier K, Gatti RA, Brais B.
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| Neuromuscul Disord 17(11-12):968-9. Epub 2007 Aug 27.PMID: 17720498 2007
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| 19 | SETX, AOA2
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| Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
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| Asaka T, Yokoji H, Ito J, Yamaguchi K, Matsushima A.
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| Neurology 66(10):1580-1. 2006
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| 20 | AOA2, SETX
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| Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
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| Fogel BL, Perlman S.
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| Neurology 67(11):2083-4. No abstract available.
2006
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| 21 | SETX
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| Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
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| Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B.
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| Ann Neurol 57(3):408-14. 2005
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| 22 | SETX, AOA2
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| Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
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| Moreira MC, Klur S, Watanabe M, Nemeth AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schols L, Pandolfo M, Schulz JB, Pouget J, Calvas P, Shizuka-Ikeda M, Shoji M, Tanaka M, Izatt L, Shaw CE, M'Zahem A, Dunne E, Bomont P, Benhassine T, Bouslam N, Stevanin G, Brice A, Guimaraes J, Mendonca P, Barbot C, Coutinho P, Sequeiros J, Durr A, Warter JM, Koenig M.
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| Nat Genet 36(3):225-7. Epub 2004 Feb 08. 2004
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| 23 | SETX, ALS4
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| DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4).
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| Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF.
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| Am J Hum Genet 74(6):1128-35. Epub 2004 Apr 21. 2004
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| 24 | AATK, ACIN1, ACOT11, ACSBG1, ADAMTS4, ADGRV1, AKAP11, ANKLE2, ARHGAP26, ARHGEF2, ASTN2, ATP2C2, ATP9A, BICD2, BZRAP1, C12orf51, CAND2, CEP135, CLASP1, CLASP2, CLUAP1, CLUH, CNOT3, COBL, CPNE3, CRTC1, CRY2, CSTF2T, CUL3, CUL4B, DAAM1, DAGLA, DEPDC5, DNAJC13, DOCK10, DZIP3, FBXW11, FKBP15, G3BP2, HEPH, HIP1R, HIPK1, ICOSLG, KIAA0649, KIAA0652, KIF13B, KIF1C, KIF21A, L3MBTL1, LDB3, MAGI2, MAP4K4, MFAP3L, MGEA5, MRC2, MTMR4, N4BP1, NPHP4, OBSL1, PAN2, PHACTR2, PHF2, PHLDB1, PLXND1, PPFIA3, PTCD1, RAB11FIP3, RBM19, RICH2, RNF40, RNF8, ROCK2, RRP12, SAPS2, SETX, SIN3B, SLC24A1, SMCHD1, SNAP91, SOCS5, SS18L1, SWAP70, TBC1D9B, TELO2, TNRC15, TSC22D2, UBE4B, UHRF1BP1L, ULK2, ZBED4, ZC3H11A, ZNF623
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| Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N,Ohara O.
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| DNA Res 5(3):169-76. 1998
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