219 related articles for article (PubMed ID: 16644229)
1. Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.
Chen YZ; Hashemi SH; Anderson SK; Huang Y; Moreira MC; Lynch DR; Glass IA; Chance PF; Bennett CL
Neurobiol Dis; 2006 Jul; 23(1):97-108. PubMed ID: 16644229
[TBL] [Abstract][Full Text] [Related]
2. Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.
Bennett CL; La Spada AR
Adv Neurobiol; 2018; 20():265-281. PubMed ID: 29916023
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
[TBL] [Abstract][Full Text] [Related]
5. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
Asaka T; Yokoji H; Ito J; Yamaguchi K; Matsushima A
Neurology; 2006 May; 66(10):1580-1. PubMed ID: 16717225
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
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
J Neurol Sci; 2009 Mar; 278(1-2):77-81. PubMed ID: 19141356
[TBL] [Abstract][Full Text] [Related]
8. Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.
Bennett CL; Sopher BL; La Spada AR
Heliyon; 2020 Jun; 6(6):e04165. PubMed ID: 32577562
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
Nakamura K; Yoshida K; Makishita H; Kitamura E; Hashimoto S; Ikeda S
J Hum Genet; 2009 Dec; 54(12):746-8. PubMed ID: 19893583
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families.
Hammer MB; El Euch-Fayache G; Nehdi H; Saidi D; Nasri A; Nabli F; Bouhlal Y; Maamouri-Hicheri W; Hentati F; Amouri R
Diagn Mol Pathol; 2012 Dec; 21(4):241-5. PubMed ID: 23111195
[TBL] [Abstract][Full Text] [Related]
13. Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents.
Vantaggiato C; Cantoni O; Guidarelli A; Romaniello R; Citterio A; Arrigoni F; Doneda C; Castelli M; Airoldi G; Bresolin N; Borgatti R; Bassi MT
Brain Dev; 2014 Sep; 36(8):682-9. PubMed ID: 24183476
[TBL] [Abstract][Full Text] [Related]
14. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Moreira MC; Klur S; Watanabe M; Németh AH; Le Ber I; Moniz JC; Tranchant C; Aubourg P; Tazir M; Schöls 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; Guimarães J; Mendonça P; Barbot C; Coutinho P; Sequeiros J; Dürr A; Warter JM; Koenig M
Nat Genet; 2004 Mar; 36(3):225-7. PubMed ID: 14770181
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.
Bennett CL; Dastidar SG; Ling SC; Malik B; Ashe T; Wadhwa M; Miller DB; Lee C; Mitchell MB; van Es MA; Grunseich C; Chen Y; Sopher BL; Greensmith L; Cleveland DW; La Spada AR
Acta Neuropathol; 2018 Sep; 136(3):425-443. PubMed ID: 29725819
[TBL] [Abstract][Full Text] [Related]
17. The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.
Arning L; Epplen JT; Rahikkala E; Hendrich C; Ludolph AC; Sperfeld AD
Neurogenetics; 2013 Feb; 14(1):53-61. PubMed ID: 23129421
[TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Anheim M; Fleury MC; Franques J; Moreira MC; Delaunoy JP; Stoppa-Lyonnet D; Koenig M; Tranchant C
Arch Neurol; 2008 Jul; 65(7):958-62. PubMed ID: 18625865
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.
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
Ann Neurol; 2005 Mar; 57(3):408-14. PubMed ID: 15732101
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
