BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 23129421)

  • 1. 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]  

  • 2. 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]  

  • 3. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
    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
    Am J Hum Genet; 2004 Jun; 74(6):1128-35. PubMed ID: 15106121
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
    Hadjinicolaou A; Ngo KJ; Conway DY; Provias JP; Baker SK; Brady LI; Bennett CL; La Spada AR; Fogel BL; Yoon G
    Acta Neuropathol Commun; 2021 Dec; 9(1):194. PubMed ID: 34922620
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 4.
    Kannan A; Cuartas J; Gangwani P; Branzei D; Gangwani L
    Brain; 2022 Sep; 145(9):3072-3094. PubMed ID: 35045161
    [TBL] [Abstract][Full Text] [Related]  

  • 9. "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).
    Schöls L; Arning L; Schüle R; Epplen JT; Timmann D
    J Neurol; 2008 Apr; 255(4):495-501. PubMed ID: 18350359
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Senataxin mutations and amyotrophic lateral sclerosis.
    Hirano M; Quinzii CM; Mitsumoto H; Hays AP; Roberts JK; Richard P; Rowland LP
    Amyotroph Lateral Scler; 2011 May; 12(3):223-7. PubMed ID: 21190393
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Senataxin: A key actor in RNA metabolism, genome integrity and neurodegeneration.
    Giannini M; Porrua O
    Biochimie; 2024 Feb; 217():10-19. PubMed ID: 37558082
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of
    Andreini I; Moro F; Africa LM; Rubegni A; Santorelli FM; Scarpini C; Sicurelli F; Battisti C
    Amyotroph Lateral Scler Frontotemporal Degener; 2020 May; 21(3-4):312-313. PubMed ID: 32186211
    [No Abstract]   [Full Text] [Related]  

  • 14. Unusual electrophysiological findings in a Chinese ALS 4 family with SETX-L389S mutation: a three-year follow-up.
    Lei L; Chen H; Lu Y; Zhu W; Ouyang Y; Duo J; Chen Z; Da Y
    J Neurol; 2021 Mar; 268(3):1050-1058. PubMed ID: 32997296
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.
    Bennett CL; Chen Y; Vignali M; Lo RS; Mason AG; Unal A; Huq Saifee NP; Fields S; La Spada AR
    PLoS One; 2013; 8(11):e78837. PubMed ID: 24244371
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
    Tripolszki K; Török D; Goudenège D; Farkas K; Sulák A; Török N; Engelhardt JI; Klivényi P; Procaccio V; Nagy N; Széll M
    Brain Behav; 2017 Apr; 7(4):e00669. PubMed ID: 28413711
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4.
    Grunseich C; Patankar A; Amaya J; Watts JA; Li D; Ramirez P; Schindler AB; Fischbeck KH; Cheung VG
    Ann Neurol; 2020 Apr; 87(4):547-555. PubMed ID: 31957062
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [A case of sporadic amyotrophic lateral sclerosis (ALS) with Senataxin (SETX) gene variant].
    Beppu S; Ikenaka K; Yabumoto T; Todo K; Hashiguchi A; Takashima H; Mochizuki H
    Rinsho Shinkeigaku; 2022 Mar; 62(3):205-210. PubMed ID: 35228463
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.