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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.
C9orf72 expansion disrupts ATM-mediated chromosomal break repair.
Walker C, Herranz-Martin S, Karyka E, Liao C, Lewis K, Elsayed W, Lukashchuk V, Chiang SC, Ray S, Mulcahy PJ, Jurga M, Tsagakis I, Iannitti T, Chandran J, Coldicott I, De Vos KJ, Hassan MK, Higginbottom A, Shaw PJ, Hautbergue GM, Azzouz M, El-Khamisy SF. Walker C, et al. Nat Neurosci. 2017 Sep;20(9):1225-1235. doi: 10.1038/nn.4604. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714954 Free PMC article.
Studying TDP1 Function in DNA Repair.
Chiang SC, Liversidge K, El-Khamisy SF. Chiang SC, et al. Methods Mol Biol. 2018;1703:173-181. doi: 10.1007/978-1-4939-7459-7_13. Methods Mol Biol. 2018. PMID: 29177742
Hypoxia-induced SETX links replication stress with the unfolded protein response.
Ramachandran S, Ma TS, Griffin J, Ng N, Foskolou IP, Hwang MS, Victori P, Cheng WC, Buffa FM, Leszczynska KB, El-Khamisy SF, Gromak N, Hammond EM. Ramachandran S, et al. Nat Commun. 2021 Jun 17;12(1):3686. doi: 10.1038/s41467-021-24066-z. Nat Commun. 2021. PMID: 34140498 Free PMC article.
87 results