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C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR; ITALSGEN Consortium, NeuroX Consortium; Kirby J, Shaw PJ. Stopford MJ, et al. Hum Mol Genet. 2017 Mar 15;26(6):1133-1145. doi: 10.1093/hmg/ddx022. Hum Mol Genet. 2017. PMID: 28158451 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.
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.
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.
Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M; Project MinE ALS Sequencing Consortium; Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ. Cooper-Knock J, et al. Among authors: hautbergue gm. Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017. Front Mol Neurosci. 2017. PMID: 29170628 Free PMC article.
Proteomic and cellular localisation studies suggest non-tight junction cytoplasmic and nuclear roles for occludin in astrocytes.
Morgan SV, Garwood CJ, Jennings L, Simpson JE, Castelli LM, Heath PR, Mihaylov SR, Vaquéz-Villaseñor I, Minshull TC, Ince PG, Dickman MJ, Hautbergue GM, Wharton SB. Morgan SV, et al. Among authors: hautbergue gm. Eur J Neurosci. 2018 Jun;47(12):1444-1456. doi: 10.1111/ejn.13933. Epub 2018 May 30. Eur J Neurosci. 2018. PMID: 29738614 Free PMC article.
70 results