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Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation.
Bauer CS, Webster CP, Shaw AC, Kok JR, Castelli LM, Lin YH, Smith EF, Illanes-Álvarez F, Higginbottom A, Shaw PJ, Azzouz M, Ferraiuolo L, Hautbergue GM, Grierson AJ, De Vos KJ. Bauer CS, et al. Among authors: smith ef. Front Cell Neurosci. 2022 Dec 16;16:1061559. doi: 10.3389/fncel.2022.1061559. eCollection 2022. Front Cell Neurosci. 2022. PMID: 36619668 Free PMC article.
C9ORF72-derived poly-GA DPRs undergo endocytic uptake in iAstrocytes and spread to motor neurons.
Marchi PM, Marrone L, Brasseur L, Coens A, Webster CP, Bousset L, Destro M, Smith EF, Walther CG, Alfred V, Marroccella R, Graves EJ, Robinson D, Shaw AC, Wan LM, Grierson AJ, Ebbens SJ, De Vos KJ, Hautbergue GM, Ferraiuolo L, Melki R, Azzouz M. Marchi PM, et al. Among authors: smith ef. Life Sci Alliance. 2022 May 13;5(9):e202101276. doi: 10.26508/lsa.202101276. Print 2022 Sep. Life Sci Alliance. 2022. PMID: 35568435 Free PMC article.
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: smith ef. 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.
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: smith ef. Nat Commun. 2017 Jul 5;8:16063. doi: 10.1038/ncomms16063. Nat Commun. 2017. PMID: 28677678 Free PMC article.
254 results