BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

245 related articles for article (PubMed ID: 33661429)

  • 1. Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
    Volkening K; Farhan SMK; Kao J; Leystra-Lantz C; Ang LC; McIntyre A; Wang J; Hegele RA; Strong MJ
    Mol Cell Biochem; 2021 Jul; 476(7):2633-2650. PubMed ID: 33661429
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.
    Picher-Martel V; Brunet F; Dupré N; Chrestian N
    J Child Neurol; 2020 Jul; 35(8):556-562. PubMed ID: 32281455
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.
    Narain P; Padhi AK; Dave U; Mishra D; Bhatia R; Vivekanandan P; Gomes J
    Neurogenetics; 2019 Oct; 20(4):197-208. PubMed ID: 31432357
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS.
    Hatano Y; Ishihara T; Onodera O
    BMC Bioinformatics; 2023 May; 24(1):206. PubMed ID: 37208601
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China.
    Chen W; Xie Y; Zheng M; Lin J; Huang P; Pei Z; Yao X
    Eur J Neurol; 2020 Jun; 27(6):1017-1022. PubMed ID: 32166880
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Role of Senataxin in Amyotrophic Lateral Sclerosis.
    Tsui A; Kouznetsova VL; Kesari S; Fiala M; Tsigelny IF
    J Mol Neurosci; 2023 Dec; 73(11-12):996-1009. PubMed ID: 37982993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.
    Nishiyama A; Niihori T; Warita H; Izumi R; Akiyama T; Kato M; Suzuki N; Aoki Y; Aoki M
    Neurobiol Aging; 2017 May; 53():194.e1-194.e8. PubMed ID: 28160950
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.
    Sabatelli M; Moncada A; Conte A; Lattante S; Marangi G; Luigetti M; Lucchini M; Mirabella M; Romano A; Del Grande A; Bisogni G; Doronzio PN; Rossini PM; Zollino M
    Hum Mol Genet; 2013 Dec; 22(23):4748-55. PubMed ID: 23847048
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
    Wang P; Wei Q; Li H; Wu ZY
    Chin Med J (Engl); 2023 Jan; 136(2):176-183. PubMed ID: 36801857
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
    Bagyinszky E; Hulme J; An SSA
    Cells; 2023 Jul; 12(15):. PubMed ID: 37566027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.