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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: haeusler ar. 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. Nature. 2014 Mar 13;507(7491):195-200. doi: 10.1038/nature13124. Epub 2014 Mar 5. Nature. 2014. PMID: 24598541 Free PMC article.
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. Zhang K, et al. Among authors: haeusler ar. Nature. 2015 Sep 3;525(7567):56-61. doi: 10.1038/nature14973. Epub 2015 Aug 26. Nature. 2015. PMID: 26308891 Free PMC article.
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN; Attendees of the inaugural C9ORF72 FTD/ALS Summit. Sattler R, et al. Neurol Ther. 2023 Dec;12(6):1821-1843. doi: 10.1007/s40120-023-00548-8. Epub 2023 Oct 17. Neurol Ther. 2023. PMID: 37847372 Free PMC article.
Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment.
Jensen BK, Schuldi MH, McAvoy K, Russell KA, Boehringer A, Curran BM, Krishnamurthy K, Wen X, Westergard T, Ma L, Haeusler AR, Edbauer D, Pasinelli P, Trotti D. Jensen BK, et al. Among authors: haeusler ar. EMBO Mol Med. 2020 May 8;12(5):e10722. doi: 10.15252/emmm.201910722. Epub 2020 Apr 29. EMBO Mol Med. 2020. PMID: 32347002 Free PMC article.
19 results