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An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Bauer CS, Cohen RN, Sironi F, Livesey MR, Gillingwater TH, Highley JR, Fillingham DJ, Coldicott I, Smith EF, Gibson YB, Webster CP, Grierson AJ, Bendotti C, De Vos KJ. Bauer CS, et al. Among authors: coldicott i. Acta Neuropathol. 2022 Sep;144(3):437-464. doi: 10.1007/s00401-022-02470-z. Epub 2022 Jul 25. Acta Neuropathol. 2022. PMID: 35876881 Free PMC article.
Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Herranz-Martin S, Chandran J, Lewis K, Mulcahy P, Higginbottom A, Walker C, Valenzuela IMY, Jones RA, Coldicott I, Iannitti T, Akaaboune M, El-Khamisy SF, Gillingwater TH, Shaw PJ, Azzouz M. Herranz-Martin S, et al. Among authors: coldicott i. Dis Model Mech. 2017 Jul 1;10(7):859-868. doi: 10.1242/dmm.029892. Epub 2017 May 26. Dis Model Mech. 2017. PMID: 28550099 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. Among authors: coldicott i. 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.
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.
Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. Marrone L, et al. Among authors: coldicott i. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.
C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis.
Allen SP, Hall B, Woof R, Francis L, Gatto N, Shaw AC, Myszczynska M, Hemingway J, Coldicott I, Willcock A, Job L, Hughes RM, Boschian C, Bayatti N, Heath PR, Bandmann O, Mortiboys H, Ferraiuolo L, Shaw PJ. Allen SP, et al. Among authors: coldicott i. Brain. 2019 Dec 1;142(12):3771-3790. doi: 10.1093/brain/awz302. Brain. 2019. PMID: 31647549 Free PMC article.
In Vivo Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy.
Plesia M, Stevens OA, Lloyd GR, Kendall CA, Coldicott I, Kennerley AJ, Miller G, Shaw PJ, Mead RJ, Day JCC, Alix JJP. Plesia M, et al. Among authors: coldicott i. ACS Chem Neurosci. 2021 May 19;12(10):1768-1776. doi: 10.1021/acschemneuro.0c00794. Epub 2021 May 5. ACS Chem Neurosci. 2021. PMID: 33950665 Free PMC article.
Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS.
Iannitti T, Scarrott JM, Likhite S, Coldicott IRP, Lewis KE, Heath PR, Higginbottom A, Myszczynska MA, Milo M, Hautbergue GM, Meyer K, Kaspar BK, Ferraiuolo L, Shaw PJ, Azzouz M. Iannitti T, et al. Among authors: coldicott irp. Mol Ther Nucleic Acids. 2018 Sep 7;12:75-88. doi: 10.1016/j.omtn.2018.04.015. Epub 2018 May 3. Mol Ther Nucleic Acids. 2018. PMID: 30195799 Free PMC article.
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