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Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J, Julian TH, Feneberg E, Highley JR, Sidra M, Turner MR, Talbot K, Ansorge O, Allen SP, Moll T, Shelkovnikova T, Castelli L, Hautbergue GM, Hewitt C, Kirby J, Wharton SB, Mead RJ, Shaw PJ. Cooper-Knock J, et al. Among authors: hautbergue gm. Brain Pathol. 2023 Jan;33(1):e13104. doi: 10.1111/bpa.13104. Epub 2022 Jul 24. Brain Pathol. 2023. PMID: 35871544 Free PMC article.
The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy.
Webster CP, Smith EF, Bauer CS, Moller A, Hautbergue GM, Ferraiuolo L, Myszczynska MA, Higginbottom A, Walsh MJ, Whitworth AJ, Kaspar BK, Meyer K, Shaw PJ, Grierson AJ, De Vos KJ. Webster CP, et al. Among authors: hautbergue gm. EMBO J. 2016 Aug 1;35(15):1656-76. doi: 10.15252/embj.201694401. Epub 2016 Jun 22. EMBO J. 2016. PMID: 27334615 Free PMC article.
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. Among authors: hautbergue gm. 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. Among authors: hautbergue gm. 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.
67 results