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Year Number of Results
2013 1
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2015 4
2016 1
2017 2
2018 3
2019 2
2024 0

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15 results

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Page 1
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y, Glaria I, Kramer NJ, Nakayama L, Fang S, Dinger TJI, Thoeng A, Rocha G, Barna M, Puglisi JD, Partridge L, Ichida JK, Isaacs AM, Petrucelli L, Gitler AD. Yamada SB, et al. Nat Neurosci. 2019 Sep;22(9):1383-1388. doi: 10.1038/s41593-019-0455-7. Epub 2019 Jul 29. Nat Neurosci. 2019. PMID: 31358992 Free PMC article.
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
Moens TG, Niccoli T, Wilson KM, Atilano ML, Birsa N, Gittings LM, Holbling BV, Dyson MC, Thoeng A, Neeves J, Glaria I, Yu L, Bussmann J, Storkebaum E, Pardo M, Choudhary JS, Fratta P, Partridge L, Isaacs AM. Moens TG, et al. Acta Neuropathol. 2019 Mar;137(3):487-500. doi: 10.1007/s00401-018-1946-4. Epub 2019 Jan 2. Acta Neuropathol. 2019. PMID: 30604225 Free PMC article.
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Swinnen B, Bento-Abreu A, Gendron TF, Boeynaems S, Bogaert E, Nuyts R, Timmers M, Scheveneels W, Hersmus N, Wang J, Mizielinska S, Isaacs AM, Petrucelli L, Lemmens R, Van Damme P, Van Den Bosch L, Robberecht W. Swinnen B, et al. Acta Neuropathol. 2018 Mar;135(3):427-443. doi: 10.1007/s00401-017-1796-5. Epub 2018 Jan 4. Acta Neuropathol. 2018. PMID: 29302778
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.
Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P, Isaacs AM. Simone R, et al. EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. EMBO Mol Med. 2018. PMID: 29113975 Free PMC article.
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, Myszczynska MA, Alam SM, Garneret P, Chandran JS, Karyka E, Stopford MJ, Smith EF, Kirby J, Meyer K, Kaspar BK, Isaacs AM, El-Khamisy SF, De Vos KJ, Ning K, Azzouz M, Whitworth AJ, Shaw PJ. Hautbergue GM, et al. Nat Commun. 2017 Jul 5;8:16063. doi: 10.1038/ncomms16063. Nat Commun. 2017. PMID: 28677678 Free PMC article.
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T. Gami P, et al. Acta Neuropathol. 2015 Oct;130(4):599-601. doi: 10.1007/s00401-015-1473-5. Epub 2015 Sep 7. Acta Neuropathol. 2015. PMID: 26347457 No abstract available.
15 results