391 related articles for article (PubMed ID: 11586300)
1. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
Moreira MC; Barbot C; Tachi N; Kozuka N; Uchida E; Gibson T; Mendonça P; Costa M; Barros J; Yanagisawa T; Watanabe M; Ikeda Y; Aoki M; Nagata T; Coutinho P; Sequeiros J; Koenig M
Nat Genet; 2001 Oct; 29(2):189-93. PubMed ID: 11586300
[TBL] [Abstract][Full Text] [Related]
2. 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; 29(2):184-8. PubMed ID: 11586299
[TBL] [Abstract][Full Text] [Related]
3. Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.
Ito A; Yamagata T; Mori M; Momoi MY
Pediatr Neurol; 2005 Jul; 33(1):53-6. PubMed ID: 15876520
[TBL] [Abstract][Full Text] [Related]
4. 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; 13(10):1081-93. PubMed ID: 15044383
[TBL] [Abstract][Full Text] [Related]
5. Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Le Ber I; Moreira MC; Rivaud-Péchoux S; Chamayou C; Ochsner F; Kuntzer T; Tardieu M; Saïd G; Habert MO; Demarquay G; Tannier C; Beis JM; Brice A; Koenig M; Dürr A
Brain; 2003 Dec; 126(Pt 12):2761-72. PubMed ID: 14506070
[TBL] [Abstract][Full Text] [Related]
6. 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; 366(2):120-5. PubMed ID: 15276230
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. Short-patch single-strand break repair in ataxia oculomotor apraxia-1.
Reynolds JJ; El-Khamisy SF; Caldecott KW
Biochem Soc Trans; 2009 Jun; 37(Pt 3):577-81. PubMed ID: 19442253
[TBL] [Abstract][Full Text] [Related]
9. 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(14):2239-49. PubMed ID: 16777843
[TBL] [Abstract][Full Text] [Related]
10. Loss of function mechanism in aprataxin-related early-onset ataxia.
Hirano M; Furiya Y; Kariya S; Nishiwaki T; Ueno S
Biochem Biophys Res Commun; 2004 Sep; 322(2):380-6. PubMed ID: 15325241
[TBL] [Abstract][Full Text] [Related]
11. 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; 251(5):591-4. PubMed ID: 15164193
[TBL] [Abstract][Full Text] [Related]
12. Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.
D'Arrigo S; Riva D; Bulgheroni S; Chiapparini L; Castellotti B; Gellera C; Pantaleoni C
J Child Neurol; 2008 Aug; 23(8):895-900. PubMed ID: 18403580
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. 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; 325(4):1279-85. PubMed ID: 15555565
[TBL] [Abstract][Full Text] [Related]
15. Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
Renaud M; Moreira MC; Ben Monga B; Rodriguez D; Debs R; Charles P; Chaouch M; Ferrat F; Laurencin C; Vercueil L; Mallaret M; M'Zahem A; Pacha LA; Tazir M; Tilikete C; Ollagnon E; Ochsner F; Kuntzer T; Jung HH; Beis JM; Netter JC; Djamshidian A; Bower M; Bottani A; Walsh R; Murphy S; Reiley T; Bieth É; Roelens F; Poll-The BT; Lourenço CM; Jardim LB; Straussberg R; Landrieu P; Roze E; Thobois S; Pouget J; Guissart C; Goizet C; Dürr A; Tranchant C; Koenig M; Anheim M
JAMA Neurol; 2018 Apr; 75(4):495-502. PubMed ID: 29356829
[TBL] [Abstract][Full Text] [Related]
16. Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.
Le Ber I; Dubourg O; Benoist JF; Jardel C; Mochel F; Koenig M; Brice A; Lombès A; Dürr A
Neurology; 2007 Jan; 68(4):295-7. PubMed ID: 17242337
[TBL] [Abstract][Full Text] [Related]
17. 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; 32(4):E2118-33. PubMed ID: 21412945
[TBL] [Abstract][Full Text] [Related]
18. 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; 35(11):3797-809. PubMed ID: 17519253
[TBL] [Abstract][Full Text] [Related]
19. Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A; Ishihara T; Koyama A; Shiga A; Yamada M; Suzuki C; Sekijima Y; Maruta K; Tsuchiya M; Date H; Sato T; Tada M; Ikeuchi T; Tsuji S; Nishizawa M; Onodera O
Brain; 2011 May; 134(Pt 5):1387-99. PubMed ID: 21486904
[TBL] [Abstract][Full Text] [Related]
20. 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; 59(1-2):18-23. PubMed ID: 17917453
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
