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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. Among authors: karyka e. 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.
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. Among authors: karyka e. Nat Commun. 2017 Jul 5;8:16063. doi: 10.1038/ncomms16063. Nat Commun. 2017. PMID: 28677678 Free PMC article.
SMN-deficient cells exhibit increased ribosomal DNA damage.
Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K, Crane H, Hautbergue GM, El-Khamisy SF, Azzouz M. Karyka E, et al. Life Sci Alliance. 2022 Apr 19;5(8):e202101145. doi: 10.26508/lsa.202101145. Print 2022 Aug. Life Sci Alliance. 2022. PMID: 35440492 Free PMC article.
Gene therapy: a promising approach to treating spinal muscular atrophy.
Mulcahy PJ, Iremonger K, Karyka E, Herranz-Martín S, Shum KT, Tam JK, Azzouz M. Mulcahy PJ, et al. Among authors: karyka e. Hum Gene Ther. 2014 Jul;25(7):575-86. doi: 10.1089/hum.2013.186. Epub 2014 Jun 27. Hum Gene Ther. 2014. PMID: 24845847 Review.
Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease.
Gatto N, Dos Santos Souza C, Shaw AC, Bell SM, Myszczynska MA, Powers S, Meyer K, Castelli LM, Karyka E, Mortiboys H, Azzouz M, Hautbergue GM, Márkus NM, Shaw PJ, Ferraiuolo L. Gatto N, et al. Among authors: karyka e. Aging Cell. 2021 Jan;20(1):e13281. doi: 10.1111/acel.13281. Epub 2020 Dec 13. Aging Cell. 2021. PMID: 33314575 Free PMC article.
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy.
Powis RA, Karyka E, Boyd P, Côme J, Jones RA, Zheng Y, Szunyogova E, Groen EJ, Hunter G, Thomson D, Wishart TM, Becker CG, Parson SH, Martinat C, Azzouz M, Gillingwater TH. Powis RA, et al. Among authors: karyka e. JCI Insight. 2016 Jul 21;1(11):e87908. doi: 10.1172/jci.insight.87908. JCI Insight. 2016. PMID: 27699224 Free PMC article.
Loss of IGF1R in Human Astrocytes Alters Complex I Activity and Support for Neurons.
Ratcliffe LE, Vázquez Villaseñor I, Jennings L, Heath PR, Mortiboys H, Schwartzentruber A, Karyka E, Simpson JE, Ince PG, Garwood CJ, Wharton SB. Ratcliffe LE, et al. Among authors: karyka e. Neuroscience. 2018 Oct 15;390:46-59. doi: 10.1016/j.neuroscience.2018.07.029. Epub 2018 Jul 27. Neuroscience. 2018. PMID: 30056117 Free PMC article.
Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations.
Khundakar AA, Hanson PS, Erskine D, Lax NZ, Roscamp J, Karyka E, Tsefou E, Singh P, Cockell SJ, Gribben A, Ramsay L, Blain PG, Mosimann UP, Lett DJ, Elstner M, Turnbull DM, Xiang CC, Brownstein MJ, O'Brien JT, Taylor JP, Attems J, Thomas AJ, McKeith IG, Morris CM. Khundakar AA, et al. Among authors: karyka e. Acta Neuropathol Commun. 2016 Jun 30;4(1):66. doi: 10.1186/s40478-016-0334-3. Acta Neuropathol Commun. 2016. PMID: 27357212 Free PMC article.
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