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Journal Abstract Search

151 related items for PubMed ID: 14755728

  • 1. Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
    Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S.
    Ann Neurol; 2004 Feb; 55(2):241-9. PubMed ID: 14755728
    [Abstract] [Full Text] [Related]

  • 2. DNA single-strand break repair is impaired in aprataxin-related ataxia.
    Hirano M, Yamamoto A, Mori T, Lan L, Iwamoto TA, Aoki M, Shimada K, Furiya Y, Kariya S, Asai H, Yasui A, Nishiwaki T, Imoto K, Kobayashi N, Kiriyama T, Nagata T, Konishi N, Itoyama Y, Ueno S.
    Ann Neurol; 2007 Feb; 61(2):162-74. PubMed ID: 17315206
    [Abstract] [Full Text] [Related]

  • 3. The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.
    Date H, Igarashi S, Sano Y, Takahashi T, Takahashi T, Takano H, Tsuji S, Nishizawa M, Onodera O.
    Biochem Biophys Res Commun; 2004 Dec 24; 325(4):1279-85. PubMed ID: 15555565
    [Abstract] [Full Text] [Related]

  • 4. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M, Ueno S.
    Neurosci Lett; 2004 Aug 12; 366(2):120-5. PubMed ID: 15276230
    [Abstract] [Full Text] [Related]

  • 5. Aprataxin, a novel protein that protects against genotoxic stress.
    Gueven N, Becherel OJ, Kijas AW, Chen P, Howe O, Rudolph JH, Gatti R, Date H, Onodera O, Taucher-Scholz G, Lavin MF.
    Hum Mol Genet; 2004 May 15; 13(10):1081-93. PubMed ID: 15044383
    [Abstract] [Full Text] [Related]

  • 6. [DNA repair and neurodegeneration].
    Onodera O.
    Rinsho Shinkeigaku; 2005 Nov 15; 45(11):979-81. PubMed ID: 16447779
    [Abstract] [Full Text] [Related]

  • 7. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.
    Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O.
    Nucleic Acids Res; 2007 Nov 15; 35(11):3797-809. PubMed ID: 17519253
    [Abstract] [Full Text] [Related]

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  • 9. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1.
    Tada M, Yokoseki A, Sato T, Makifuchi T, Onodera O.
    Adv Exp Med Biol; 2010 Nov 15; 685():21-33. PubMed ID: 20687492
    [Abstract] [Full Text] [Related]

  • 10. Short-patch single-strand break repair in ataxia oculomotor apraxia-1.
    Reynolds JJ, El-Khamisy SF, Caldecott KW.
    Biochem Soc Trans; 2009 Jun 15; 37(Pt 3):577-81. PubMed ID: 19442253
    [Abstract] [Full Text] [Related]

  • 11. A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
    Crimella C, Cantoni O, Guidarelli A, Vantaggiato C, Martinuzzi A, Fiorani M, Azzolini C, Orso G, Bresolin N, Bassi MT.
    Hum Mutat; 2011 Apr 15; 32(4):E2118-33. PubMed ID: 21412945
    [Abstract] [Full Text] [Related]

  • 12. Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
    Kato T, Tamura Y, Matsumoto H, Kobayashi O, Ishiguro H, Ogawa M, Tsujikawa K, Hasegawa Y, Sakamoto M, Konagaya M, Houzen H, Takagi M, Imai K, Morio T, Yokoseki A, Onodera O, Nonoyama S.
    Clin Immunol; 2021 Aug 15; 229():108776. PubMed ID: 34118401
    [Abstract] [Full Text] [Related]

  • 13. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
    Becherel OJ, Gueven N, Birrell GW, Schreiber V, Suraweera A, Jakob B, Taucher-Scholz G, Lavin MF.
    Hum Mol Genet; 2006 Jul 15; 15(14):2239-49. PubMed ID: 16777843
    [Abstract] [Full Text] [Related]

  • 14. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
    Ito A, Yamagata T, Mori M, Momoi MY.
    Pediatr Neurol; 2005 Jul 15; 33(1):53-6. PubMed ID: 15876520
    [Abstract] [Full Text] [Related]

  • 15. Aprataxin (APTX) gene mutations resembling multiple system atrophy.
    Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK.
    Parkinsonism Relat Disord; 2007 Apr 15; 13(3):139-42. PubMed ID: 17049295
    [Abstract] [Full Text] [Related]

  • 16. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
    Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S.
    Nat Genet; 2001 Oct 15; 29(2):184-8. PubMed ID: 11586299
    [Abstract] [Full Text] [Related]

  • 17. Short half-lives of ataxia-associated aprataxin proteins in neuronal cells.
    Hirano M, Asai H, Kiriyama T, Furiya Y, Iwamoto T, Nishiwaki T, Yamamoto A, Mori T, Ueno S.
    Neurosci Lett; 2007 May 29; 419(2):184-7. PubMed ID: 17485165
    [Abstract] [Full Text] [Related]

  • 18. 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.
    Sugawara M, Wada C, Okawa S, Kobayashi M, Sageshima M, Imota T, Toyoshima I.
    Eur Neurol; 2008 May 29; 59(1-2):18-23. PubMed ID: 17917453
    [Abstract] [Full Text] [Related]

  • 19. Aprataxin mutations are a rare cause of early onset ataxia in Germany.
    Habeck M, Zühlke C, Bentele KH, Unkelbach S, Kress W, Bürk K, Schwinger E, Hellenbroich Y.
    J Neurol; 2004 May 29; 251(5):591-4. PubMed ID: 15164193
    [Abstract] [Full Text] [Related]

  • 20. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
    Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M.
    Neurology; 2002 Aug 27; 59(4):590-5. PubMed ID: 12196655
    [Abstract] [Full Text] [Related]

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