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Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients.
Pinilla G, Kumar A, Floaters MK, Pardo CA, Rothstein J, Ilieva H. Pinilla G, et al. Among authors: rothstein j. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):517-527. doi: 10.1080/21678421.2021.1912100. Epub 2021 Apr 30. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33929933
Biochemical markers: pro.
Rothstein J. Rothstein J. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002;3 Suppl 1:S81. doi: 10.1080/146608202320374381. Amyotroph Lateral Scler Other Motor Neuron Disord. 2002. PMID: 12396817 No abstract available.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Among authors: rothstein jd. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM, Maragakis N, Tienari PJ, Petrucelli L, Traynor BJ, Wang J, Rigo F, Bennett CF, Blackshaw S, Sattler R, Rothstein JD. Donnelly CJ, et al. Among authors: rothstein jd. Neuron. 2013 Oct 16;80(2):415-28. doi: 10.1016/j.neuron.2013.10.015. Neuron. 2013. PMID: 24139042 Free PMC article.
C9orf72 nucleotide repeat structures initiate molecular cascades of disease.
Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler R, Rothstein JD, Wang J. Haeusler AR, et al. Among authors: rothstein jd. Nature. 2014 Mar 13;507(7491):195-200. doi: 10.1038/nature13124. Epub 2014 Mar 5. Nature. 2014. PMID: 24598541 Free PMC article.
742 results