BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

363 related articles for article (PubMed ID: 32504093)

  • 1. Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
    Ababneh NA; Scaber J; Flynn R; Douglas A; Barbagallo P; Candalija A; Turner MR; Sims D; Dafinca R; Cowley SA; Talbot K
    Hum Mol Genet; 2020 Aug; 29(13):2200-2217. PubMed ID: 32504093
    [TBL] [Abstract][Full Text] [Related]  

  • 2. C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
    Dafinca R; Scaber J; Ababneh N; Lalic T; Weir G; Christian H; Vowles J; Douglas AG; Fletcher-Jones A; Browne C; Nakanishi M; Turner MR; Wade-Martins R; Cowley SA; Talbot K
    Stem Cells; 2016 Aug; 34(8):2063-78. PubMed ID: 27097283
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins.
    Abo-Rady M; Kalmbach N; Pal A; Schludi C; Janosch A; Richter T; Freitag P; Bickle M; Kahlert AK; Petri S; Stefanov S; Glass H; Staege S; Just W; Bhatnagar R; Edbauer D; Hermann A; Wegner F; Sterneckert JL
    Stem Cell Reports; 2020 Mar; 14(3):390-405. PubMed ID: 32084385
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro.
    Meijboom KE; Abdallah A; Fordham NP; Nagase H; Rodriguez T; Kraus C; Gendron TF; Krishnan G; Esanov R; Andrade NS; Rybin MJ; Ramic M; Stephens ZD; Edraki A; Blackwood MT; Kahriman A; Henninger N; Kocher JA; Benatar M; Brodsky MH; Petrucelli L; Gao FB; Sontheimer EJ; Brown RH; Zeier Z; Mueller C
    Nat Commun; 2022 Oct; 13(1):6286. PubMed ID: 36271076
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.
    Esanov R; Cabrera GT; Andrade NS; Gendron TF; Brown RH; Benatar M; Wahlestedt C; Mueller C; Zeier Z
    Mol Neurodegener; 2017 Jun; 12(1):46. PubMed ID: 28606110
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.
    Andrade NS; Ramic M; Esanov R; Liu W; Rybin MJ; Gaidosh G; Abdallah A; Del'Olio S; Huff TC; Chee NT; Anatha S; Gendron TF; Wahlestedt C; Zhang Y; Benatar M; Mueller C; Zeier Z
    Mol Neurodegener; 2020 Feb; 15(1):13. PubMed ID: 32093728
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
    Sareen D; O'Rourke JG; Meera P; Muhammad AK; Grant S; Simpkinson M; Bell S; Carmona S; Ornelas L; Sahabian A; Gendron T; Petrucelli L; Baughn M; Ravits J; Harms MB; Rigo F; Bennett CF; Otis TS; Svendsen CN; Baloh RH
    Sci Transl Med; 2013 Oct; 5(208):208ra149. PubMed ID: 24154603
    [TBL] [Abstract][Full Text] [Related]  

  • 8. C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.
    Beckers J; Tharkeshwar AK; Van Damme P
    Autophagy; 2021 Nov; 17(11):3306-3322. PubMed ID: 33632058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3.
    Ramesh N; Daley EL; Gleixner AM; Mann JR; Kour S; Mawrie D; Anderson EN; Kofler J; Donnelly CJ; Kiskinis E; Pandey UB
    Acta Neuropathol Commun; 2020 Oct; 8(1):177. PubMed ID: 33129345
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD.
    Moore S; Alsop E; Lorenzini I; Starr A; Rabichow BE; Mendez E; Levy JL; Burciu C; Reiman R; Chew J; Belzil VV; W Dickson D; Robertson J; Staats KA; Ichida JK; Petrucelli L; Van Keuren-Jensen K; Sattler R
    Acta Neuropathol; 2019 Jul; 138(1):49-65. PubMed ID: 30945056
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
    Zhang K; Donnelly CJ; Haeusler AR; Grima JC; Machamer JB; Steinwald P; Daley EL; Miller SJ; Cunningham KM; Vidensky S; Gupta S; Thomas MA; Hong I; Chiu SL; Huganir RL; Ostrow LW; Matunis MJ; Wang J; Sattler R; Lloyd TE; Rothstein JD
    Nature; 2015 Sep; 525(7567):56-61. PubMed ID: 26308891
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity.
    Guo W; Wang H; Kumar Tharkeshwar A; Couthouis J; Braems E; Masrori P; Van Schoor E; Fan Y; Ahuja K; Moisse M; Jacquemyn M; Furtado Madeiro da Costa R; Gajjar M; Balusu S; Tricot T; Fumagalli L; Hersmus N; Janky R; Impens F; Vanden Berghe P; Ho R; Thal DR; Vandenberghe R; Hegde ML; Chandran S; De Strooper B; Daelemans D; Van Damme P; Van Den Bosch L; Verfaillie C
    Alzheimers Dement; 2023 Apr; 19(4):1245-1259. PubMed ID: 35993441
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.
    Perkins EM; Burr K; Banerjee P; Mehta AR; Dando O; Selvaraj BT; Suminaite D; Nanda J; Henstridge CM; Gillingwater TH; Hardingham GE; Wyllie DJA; Chandran S; Livesey MR
    Mol Neurodegener; 2021 Mar; 16(1):13. PubMed ID: 33663561
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutant C9orf72 human iPSC-derived astrocytes cause non-cell autonomous motor neuron pathophysiology.
    Zhao C; Devlin AC; Chouhan AK; Selvaraj BT; Stavrou M; Burr K; Brivio V; He X; Mehta AR; Story D; Shaw CE; Dando O; Hardingham GE; Miles GB; Chandran S
    Glia; 2020 May; 68(5):1046-1064. PubMed ID: 31841614
    [TBL] [Abstract][Full Text] [Related]  

  • 15. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca
    Selvaraj BT; Livesey MR; Zhao C; Gregory JM; James OT; Cleary EM; Chouhan AK; Gane AB; Perkins EM; Dando O; Lillico SG; Lee YB; Nishimura AL; Poreci U; Thankamony S; Pray M; Vasistha NA; Magnani D; Borooah S; Burr K; Story D; McCampbell A; Shaw CE; Kind PC; Aitman TJ; Whitelaw CBA; Wilmut I; Smith C; Miles GB; Hardingham GE; Wyllie DJA; Chandran S
    Nat Commun; 2018 Jan; 9(1):347. PubMed ID: 29367641
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CRISPR/Cas9-Mediated Gene Correction to Understand ALS.
    Yun Y; Ha Y
    Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32471232
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.
    Lattuada C; Santangelo S; Peverelli S; McGoldrick P; Rogaeva E; Zinman L; Haase G; Géli V; Silani V; Robertson J; Ratti A; Bossolasco P
    Stem Cell Res; 2023 Feb; 66():102998. PubMed ID: 36528014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD.
    Coyne AN; Rothstein JD
    Acta Neuropathol Commun; 2021 Mar; 9(1):45. PubMed ID: 33741069
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis.
    Mehta AR; Gregory JM; Dando O; Carter RN; Burr K; Nanda J; Story D; McDade K; Smith C; Morton NM; Mahad DJ; Hardingham GE; Chandran S; Selvaraj BT
    Acta Neuropathol; 2021 Feb; 141(2):257-279. PubMed ID: 33398403
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
    Dafinca R; Barbagallo P; Farrimond L; Candalija A; Scaber J; Ababneh NA; Sathyaprakash C; Vowles J; Cowley SA; Talbot K
    Stem Cell Reports; 2020 May; 14(5):892-908. PubMed ID: 32330447
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.