BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 21112256)

  • 1. Role of senataxin in DNA damage and telomeric stability.
    De Amicis A; Piane M; Ferrari F; Fanciulli M; Delia D; Chessa L
    DNA Repair (Amst); 2011 Feb; 10(2):199-209. PubMed ID: 21112256
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
    Airoldi G; Guidarelli A; Cantoni O; Panzeri C; Vantaggiato C; Bonato S; Grazia D'Angelo M; Falcone S; De Palma C; Tonelli A; Crimella C; Bondioni S; Bresolin N; Clementi E; Bassi MT
    Neurogenetics; 2010 Feb; 11(1):91-100. PubMed ID: 19593598
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
    Richard P; Feng S; Tsai YL; Li W; Rinchetti P; Muhith U; Irizarry-Cole J; Stolz K; Sanz LA; Hartono S; Hoque M; Tadesse S; Seitz H; Lotti F; Hirano M; Chédin F; Tian B; Manley JL
    Autophagy; 2021 Aug; 17(8):1889-1906. PubMed ID: 32686621
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
    Ponger P; Kurolap A; Lerer I; Dagan J; Chai Gadot C; Mory A; Wilnai Y; Oniashvili N; Giladi N; Gurevich T; Meiner V; Lossos A; Baris Feldman H
    J Mol Neurosci; 2022 Aug; 72(8):1715-1723. PubMed ID: 35676594
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
    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
    J Cell Biol; 2007 Jun; 177(6):969-79. PubMed ID: 17562789
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.
    Bohlega SA; Shinwari JM; Al Sharif LJ; Khalil DS; Alkhairallah TS; Al Tassan NA
    BMC Med Genet; 2011 Feb; 12():27. PubMed ID: 21324166
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).
    Becherel OJ; Fogel BL; Zeitlin SI; Samaratunga H; Greaney J; Homer H; Lavin MF
    Cerebellum; 2019 Jun; 18(3):448-456. PubMed ID: 30778901
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).
    Arning L; Schöls L; Cin H; Souquet M; Epplen JT; Timmann D
    Neurogenetics; 2008 Oct; 9(4):295-9. PubMed ID: 18663494
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.
    Kanagaraj R; Mitter R; Kantidakis T; Edwards MM; Benitez A; Chakravarty P; Fu B; Becherel O; Yang F; Lavin MF; Koren A; Stewart A; West SC
    Proc Natl Acad Sci U S A; 2022 Jan; 119(4):. PubMed ID: 35042798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Germ cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
    Catford SR; O'Bryan MK; McLachlan RI; Delatycki MB; Rombauts L
    Reprod Biomed Online; 2019 Jun; 38(6):961-965. PubMed ID: 30642639
    [TBL] [Abstract][Full Text] [Related]  

  • 11. R-loops in proliferating cells but not in the brain: implications for AOA2 and other autosomal recessive ataxias.
    Yeo AJ; Becherel OJ; Luff JE; Cullen JK; Wongsurawat T; Jenjaroenpun P; Kuznetsov VA; McKinnon PJ; Lavin MF
    PLoS One; 2014; 9(3):e90219. PubMed ID: 24637776
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.
    Becherel OJ; Sun J; Yeo AJ; Nayler S; Fogel BL; Gao F; Coppola G; Criscuolo C; De Michele G; Wolvetang E; Lavin MF
    Hum Mol Genet; 2015 Oct; 24(20):5759-74. PubMed ID: 26231220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
    Nanetti L; Cavalieri S; Pensato V; Erbetta A; Pareyson D; Panzeri M; Zorzi G; Antozzi C; Moroni I; Gellera C; Brusco A; Mariotti C
    Orphanet J Rare Dis; 2013 Aug; 8():123. PubMed ID: 23941260
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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.
    Richard P; Feng S; Manley JL
    Genes Dev; 2013 Oct; 27(20):2227-32. PubMed ID: 24105744
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
    Suraweera A; Lim Y; Woods R; Birrell GW; Nasim T; Becherel OJ; Lavin MF
    Hum Mol Genet; 2009 Sep; 18(18):3384-96. PubMed ID: 19515850
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
    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
    Hum Mol Genet; 2014 Sep; 23(18):4758-69. PubMed ID: 24760770
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.
    Bennett CL; La Spada AR
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1745. PubMed ID: 34263556
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage.
    Roda RH; Rinaldi C; Singh R; Schindler AB; Blackstone C
    J Clin Neurosci; 2014 Sep; 21(9):1627-31. PubMed ID: 24814856
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterozygous deletion in exon 6 of
    Kinkar JS; Jameel PZ; Kumawat BL; Kalbhor P
    BMJ Case Rep; 2021 Jun; 14(6):. PubMed ID: 34193451
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Some pathogenic SETX variants are partially conserved during evolution.
    Tariq H; Tariq I; Bourinaris T; Houlden H; Naz S
    Gene; 2021 Mar; 771():145360. PubMed ID: 33333218
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.