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Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
Wiseman JP, Scarrott JM, Alves-Cruzeiro J, Saffari A, Böger C, Karyka E, Dawes E, Davies AK, Marchi PM, Graves E, Fernandes F, Yang ZL, Coldicott I, Hirst J, Webster CP, Highley JR, Hackett N, Angyal A, Silva T, Higginbottom A, Shaw PJ, Ferraiuolo L, Ebrahimi-Fakhari D, Azzouz M. Wiseman JP, et al. Among authors: marchi pm. EMBO Mol Med. 2024 Nov;16(11):2882-2917. doi: 10.1038/s44321-024-00148-5. Epub 2024 Oct 2. EMBO Mol Med. 2024. PMID: 39358605 Free PMC article.
A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons.
Hölbling BV, Gupta Y, Marchi PM, Atilano ML, Flower M, Ureña E, Goulden RA, Dobbs HK, Katona E, Mikheenko A, Giblin A, Awan AR, Fisher-Ward CL, O'Brien N, Vaizoglu D, Kempthorne L, Wilson KM, Gittings LM, Carcolé M, Ruepp MD, Mizielinska S, Partridge L, Fratta P, Tabrizi SJ, Selvaraj BT, Chandran S, Armstrong E, Whiting P, Isaacs AM. Hölbling BV, et al. Among authors: marchi pm. Cell Rep. 2025 May 27;44(5):115695. doi: 10.1016/j.celrep.2025.115695. Epub 2025 May 10. Cell Rep. 2025. PMID: 40349338 Free article.
SMN-deficient cells exhibit increased ribosomal DNA damage.
Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K, Crane H, Hautbergue GM, El-Khamisy SF, Azzouz M. Karyka E, et al. Among authors: marchi pm. Life Sci Alliance. 2022 Apr 19;5(8):e202101145. doi: 10.26508/lsa.202101145. Print 2022 Aug. Life Sci Alliance. 2022. PMID: 35440492 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. 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.
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: marchi pm. Hum Mol Genet. 2022 Aug 23;31(16):2693-2710. doi: 10.1093/hmg/ddac063. Hum Mol Genet. 2022. PMID: 35313342 Free PMC article.