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A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins.
Castelli LM, Lin YH, Sanchez-Martinez A, Gül A, Mohd Imran K, Higginbottom A, Upadhyay SK, Márkus NM, Rua Martins R, Cooper-Knock J, Montmasson C, Cohen R, Walton A, Bauer CS, De Vos KJ, Mead RJ, Azzouz M, Dominguez C, Ferraiuolo L, Shaw PJ, Whitworth AJ, Hautbergue GM. Castelli LM, et al. Sci Transl Med. 2023 Mar;15(685):eabo3823. doi: 10.1126/scitranslmed.abo3823. Epub 2023 Mar 1. Sci Transl Med. 2023. PMID: 36857431
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. 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.