These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

204 related articles for article (PubMed ID: 36781946)

  • 21. Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype.
    Bouchard C; Gérard C; Yanyabé SG; Majeau N; Aloui M; Buisson G; Yameogo P; Couture V; Tremblay JP
    Genes (Basel); 2023 Aug; 14(8):. PubMed ID: 37628705
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
    Santoro M; Perna A; La Rosa P; Petrillo S; Piemonte F; Rossi S; Riso V; Nicoletti TF; Modoni A; Pomponi MG; Chiurazzi P; Silvestri G
    Neurogenetics; 2020 Oct; 21(4):279-287. PubMed ID: 32638185
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A Drosophila model of Friedreich ataxia with CRISPR/Cas9 insertion of GAA repeats in the frataxin gene reveals in vivo protection by N-acetyl cysteine.
    Russi M; Martin E; D'Autréaux B; Tixier L; Tricoire H; Monnier V
    Hum Mol Genet; 2020 Oct; 29(17):2831-2844. PubMed ID: 32744307
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.
    Evans-Galea MV; Lockhart PJ; Galea CA; Hannan AJ; Delatycki MB
    Discov Med; 2014 Jan; 17(91):25-35. PubMed ID: 24411698
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Friedreich's ataxia.
    Alper G; Narayanan V
    Pediatr Neurol; 2003 May; 28(5):335-41. PubMed ID: 12878293
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Transcriptional profiling of isogenic Friedreich ataxia neurons and effect of an HDAC inhibitor on disease signatures.
    Lai JI; Nachun D; Petrosyan L; Throesch B; Campau E; Gao F; Baldwin KK; Coppola G; Gottesfeld JM; Soragni E
    J Biol Chem; 2019 Feb; 294(6):1846-1859. PubMed ID: 30552117
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Future Prospects of Gene Therapy for Friedreich's Ataxia.
    Ocana-Santero G; Díaz-Nido J; Herranz-Martín S
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33670433
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.
    Bit-Avragim N; Perrot A; Schöls L; Hardt C; Kreuz FR; Zühlke C; Bubel S; Laccone F; Vogel HP; Dietz R; Osterziel KJ
    J Mol Med (Berl); 2001; 78(11):626-32. PubMed ID: 11269509
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
    Vilema-Enríquez G; Quinlan R; Kilfeather P; Mazzone R; Saqlain S; Del Molino Del Barrio I; Donato A; Corda G; Li F; Vedadi M; Németh AH; Brennan PE; Wade-Martins R
    J Biol Chem; 2020 Dec; 295(52):17973-17985. PubMed ID: 33028632
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
    Li H; Gakh O; Smith DY; Ranatunga WK; Isaya G
    J Biol Chem; 2013 Feb; 288(6):4116-27. PubMed ID: 23269675
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.
    Bayot A; Rustin P
    Oxid Med Cell Longev; 2013; 2013():725635. PubMed ID: 24194977
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
    Li Y; Li J; Wang J; Zhang S; Giles K; Prakash TP; Rigo F; Napierala JS; Napierala M
    Hum Mol Genet; 2022 Oct; 31(20):3539-3557. PubMed ID: 35708503
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model.
    Rai M; Soragni E; Chou CJ; Barnes G; Jones S; Rusche JR; Gottesfeld JM; Pandolfo M
    PLoS One; 2010 Jan; 5(1):e8825. PubMed ID: 20098685
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene.
    Ahmad I; Kapoor H; Kumar Srivastava A; Faruq M
    Stem Cell Res; 2024 Feb; 74():103289. PubMed ID: 38141359
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
    Martelli A; Napierala M; Puccio H
    Dis Model Mech; 2012 Mar; 5(2):165-76. PubMed ID: 22382366
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Activation of Frataxin Protein Expression by Antisense Oligonucleotides Targeting the Mutant Expanded Repeat.
    Li L; Shen X; Liu Z; Norrbom M; Prakash TP; O'Reilly D; Sharma VK; Damha MJ; Watts JK; Rigo F; Corey DR
    Nucleic Acid Ther; 2018 Feb; 28(1):23-33. PubMed ID: 29341839
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Role of mismatch repair enzymes in GAA·TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells.
    Du J; Campau E; Soragni E; Ku S; Puckett JW; Dervan PB; Gottesfeld JM
    J Biol Chem; 2012 Aug; 287(35):29861-72. PubMed ID: 22798143
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.
    Khonsari H; Schneider M; Al-Mahdawi S; Chianea YG; Themis M; Parris C; Pook MA; Themis M
    Gene Ther; 2016 Dec; 23(12):846-856. PubMed ID: 27518705
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.
    Ahmad I; Kapoor H; Srivastava AK; Faruq M
    Stem Cell Res; 2024 Apr; 76():103340. PubMed ID: 38367363
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia.
    Rodden LN; Rummey C; Kessler S; Wilson RB; Lynch DR
    Mov Disord; 2023 Jun; 38(6):970-977. PubMed ID: 36928898
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.